Difference between revisions of "Congenital disorders"

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The congenital disorders refer to the medical conditions that are present at birth. These can be the result of genetic abnormalities, the unfavorable intrauterine environment or may be due to some unknown factors. A congenital disorder may be recognized prenatally (before birth), at birth, or sometimes many years later.  
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{{#seo:
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|title=Congenital Disorders
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Ayurveda emphasizes the proper preparation of the parents as the essential prerequisite for a healthy progeny and prevention of congenital disorders.
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|titlemode=append
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|keywords=congenital disorders, beeja, beejabhaga, beejabhagaavayava, genetics in Ayurveda, Causes of congenital disorders, preconception care in Ayurveda, prevention of congenital disorders, Ayurveda, Indian system of medicine, Charak Samhita
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|description=Congenital disorders are disabilities or malformations present at or before birth. Ayurveda emphasizes on prevention of congenital  disorders through proper preconception, ante- natal and  intra partum care.
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|image=http://www.carakasamhitaonline.com/resources/assets/ogimgs.jpg
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|image_alt=carak samhita
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|type=article
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}}
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'''Understanding congenital disorders in [[Ayurveda]] and contemporary research'''
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<p style='text-align:justify;'>Congenital disorders are disabilities or malformations present at or before birth.  These are identified in prenatal life or at birth, or many years later. As per the World Health Organization, congenital anomalies are a leading cause of neonatal deaths. Every year an estimated 295 000 newborns die within 28 days of birth due to congenital anomalies. These can contribute to long-term disability, with significant impacts on individuals, families, healthcare systems, and societies. <ref>Available from https://www.who.int/news-room/fact-sheets/detail/congenital-anomalies accessed on 15/06/2021</ref>
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  <br/>
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Human genetics studies individual genes, their role and function in disease, and their mode of inheritance.  Genomics refers to an organism's entire genetic information, the genome，and the function and interaction of DNA within the genome， as well as with environmental or nongenetic factors such as a person's lifestyle.  Characterization of the human genome in genomic studies has supported genetics to elucidate the etiology, pathogenesis of the disease, and improve therapeutic interventions and outcomes. The impressive advances in genetics, genomics， and health care information technology have significantly increased the wealth of knowledge. It is helpful in medical practice and play a prominent role in the diagnosis， prevention, and treatment of disease.<ref>J. Larry Ja meson， Peter Kopp. Principles of Human Genetics. In Harrison’s principles of internal medicine. 19th edition. Pg. 425. </ref> 
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<br/>The ancient rishis of [[Ayurveda]] had recognized the genetic basis of diseases. They have documented the knowledge in various contexts. The current medical system focuses on the identification of genes responsible for diseases. At the same time, the references found in [[Ayurveda]] texts indicate the causes of genetic disorders and their role in health and diseases. A proper study to bridge the gaps and connect these two pools of information can reveal significant insights for a comprehensive understanding of why and what of congenital and genetic disorders.  The present article describes congenital disorders in [[Ayurveda]] texts and contemporary research.
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</p>
 
{{Infobox
 
{{Infobox
  
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|label1 = Section/Chapter/topic
 
|label1 = Section/Chapter/topic
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|data1 = [[Sharira]] /[[Garbha]]/ [[Congenital disorders]]
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|data1 = [[Sharira]] / [[Garbha]] / Congenital disorders
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|label2 = Authors
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|data2 = Anagha S.<sup>1</sup>, Deole Y.S.<sup>1</sup>
  
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|label2 = Author
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|label3 = Reviewers
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|data2 = Blinded 
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|data3 = Basisht G.<sup>1</sup>, Chavan- Gautam P.<sup>2</sup>
  
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|label3 = Reviewed by
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|label4 = Editor
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|data3 = Open for review till November  05, 2020
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|data4 = Basisht G.<sup>1</sup>
  
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|label4 = Affiliations
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|label5 = Affiliations
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|data4 = Blinded 
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|data5 = <sup>1</sup>[[Charak Samhita Research, Training and Development Centre]], I.P.G.T.& R.A., Jamnagar,
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<sup>2</sup> Center for Complementary & Integrative Health, Savitribai Phule Pune University, Maharashtra, India.
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|label6 = Correspondence email
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|data6 = carakasamhita@gmail.com
  
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|label5 = Correspondence email:
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|label7 = Publisher
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|data5 = carakasamhita@gmail.com
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|data7 = [[Charak Samhita Research, Training and Development Centre]], I.T.R.A., Jamnagar, India
  
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|label6 = Date of publication:
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|label8 = Date of first publication:
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|data6 = October 04, 2020
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|data8 = July 21, 2021
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|label9 = DOI
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|data9 = 10.47468/CSNE.2021.e01.s09.068
 
}}
 
}}
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==Congenital disorders as per [[Ayurveda]]==
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<div style="text-align:justify;">
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In [[Ayurveda]], the congenital disorders are considered incurable(asadhya) with poor prognosis. Similarly, some hereditary of familial (kulaja) ailments are also explained as incurable.
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E.g. Congenital or hereditary obstinate urinary diseases including diabetes (Jataja prameha) [Cha. Sa. [[Chikitsa Sthana]] 6/57]
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Ayurveda emphasizes on prevention of congenital  disorders through proper preconception, ante- natal and  intra partum care.  The causes for congenital disorders are explained in detail. These are helpful in taking necessary actions to avoid such risk factors and obtaining a healthy progeny.
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</div>
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==Causes of Congenital Disorders==
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<div style="text-align:justify;">
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[[file:Causes.PNG|500px|'''Image 1:Causes of Congenital Disorders'''|thumb]]
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The causes of congenital disorders can be analyzed in view of physical, mental and spiritual dimensions.
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These causes can be broadly classified based on period:
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1) Preconception period
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2) Antenatal period
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3) Intra-partum period
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== Factors related to preconception Period==
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===Physical factors ===
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==== Genetic defects in parents====
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'''Abnormalities in gametes (beeja dosha)'''
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<div style="text-align:justify;">
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The concept of genetics is denoted with the terms ‘beeja’(seed or gametes), ‘beejabhaga’ (chromosomes) and beeja-bhagavayava (nucleic acids and genes). The maternal (matruja) and paternal (pitruja) factors are responsible for the formation of the embryo. When any part of these three genetic materials is abnormal, it leads to deformity or mal-formation of the organ or body part. [Cha. Sa. [[Sharira Sthana]] 3/17]
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====Role of reproductive physiology ([[shukra dhatu]]) of parents====
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The vitiation of reproductive elements [[shukra dhatu]] and its channels of transformation and transportation (shukravaha srotasa) results in deformities in progeny. [Cha. Sa. [[Sutra Sthana]] 28/28], [Cha. Sa. [[Chikitsa Sthana]] 2;8/34] The normal status of [[shukra dhatu]] at the time of conception is important for normal embryogenesis. 
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====Disorders of female reproductive system ====
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Optimum health of uterus/female reproductive tract (kshetra) is an essential factor for the normal growth and development of the fetus.
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==== Role of time factor (kala) ====
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Age of the parents at the time of conception is important. In Ayurvedic texts, the minimum age for normal and healthy conception is described as twenty five years for male and sixteen years for female. At this age, the individual attains complete psycho-sexual maturity to become responsible parents. [Su. Sa. Sutra Sthana 35/13] Young girls and  old women are not advised for conception. [Cha. Sa. [[Sharira Sthana]] 8/6] If the recommended age is not followed for conception, it can lead to intrauterine death of fetus, neonatal death, ill health and deformed body parts of  the child.[A. S. Sharira Sthana 1/5]
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Pregnancy at a very young age causes premature births. Aneuploidy (abnormal chromosome number) is the principal hereditary abnormality associated with age of either parent.  Advanced maternal age is associated with increased risks for miscarriage, chromosomal abnormalities, stillbirth, foetal growth restriction and preterm birth.<ref>Frick AP. Advanced maternal age and adverse pregnancy outcomes. Best Pract Res Clin Obstet Gynaecol. 2021 Jan;70:92-100. doi: 10.1016/j.bpobgyn.2020.07.005. Epub 2020 Jul 15. PMID: 32741623.</ref>Recent research shows that younger paternal age(< 20 years) could increase the risks of urogenital abnormalities and chromosome disorders in fetus. Advanced paternal age (≥ 40 years) could increase the risks of cardiovascular abnormalities, facial deformities, urogenital abnormalities, and chromosome disorders in their offspring.<ref>Fang Y, Wang Y, Peng M, et al. Effect of paternal age on offspring birth defects: a systematic review and meta-analysis. Aging (Albany NY). 2020;12(24):25373-25394. doi:10.18632/aging.104141</ref> Growing evidences also indicate that the offspring of older fathers are prone to reduced fertility and an increased risk of birth defects, some cancers, and schizophrenia.<ref>Bray I, Gunnell D, Davey Smith G. Advanced paternal age: how old is too old?. J Epidemiol Community Health. 2006;60(10):851-853. doi:10.1136/jech.2005.045179</ref>
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===Psychological and behavioral factors===
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A pleasant state of mind is the prime requirement for conception. [Cha. Sa. [[Sutra Sthana]] 25/40] The mental status of parents during coitus and conception is important. Coitus shall be avoided, when either of the partners is hungry, thirsty, or frightened, averse, sorrow-stricken, angry, distressed with relationship, or not desiring for sex. These states during coitus adversely affect conception and health of progeny.  [Cha. Sa. [[Sharira Sthana]] 8/17] Studies show that preconception stress alters offspring development in a parental and fetal sex-specific manner. This is reflected in the metabolic and immune-related genes in the placenta as well as brain transcriptome.<ref>Yasmine M.Cissé et al, Brain and placental transcriptional responses as a readout of maternal and paternal preconception stress are fetal sex specific, Placenta, Volume 100, October 2020, Pages 164-170.</ref>
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===Spiritual factors ===
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Sinful acts and atheistic attitude of parents [Su. Sa. Sharira Sthana 2/50-52], deeds of previous life ([[atma]] –karma dosha) [Cha. Sa. [[Sharira Sthana]] 2/29] and unrighteousness(adharma) [Su. Sa. Sharira Sthana 3/36] can cause congenital disorders.  These factors are commonly considered as of ‘unknown origin’ in current medical practices.
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</div>
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==Factors related to antenatal period==
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<div style="text-align:justify;">
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Improper antenatal care and poor nutrition during pregnancy can lead to deformity in the fetus. [Cha. Sa. [[Sharira Sthana]] 4/30] The six factors responsible for embryogenesis play an important role in the causation of congenital disorders. These include maternal (matruja), paternal (pitruja), spiritual ([[atma]]ja), psychological (sattvaja), adaptations ([[satmya]]ja) and nutritional component (rasaja). Minor defects in these factors can cause congenital abnormalities in the fetus. Major defects cause abortion or intrauterine death of the fetus. [Cha. Sa. [[Sharira Sthana]] 4/28-29]
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===Role of [[panchamahabhuta]]===
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The five fundamental elements ([[pancha mahabhuta]]) play basic functions during embryogenesis. [[Vayu]] performs function of cell division/multiplication (vibhajana); [[agni]] carries function of metabolism(pachana); [[jala]] carries function of moisture or fluid (kledana); [[Prithvi]] carries function of compactness or formation of mass(samhanana); and [[akasha]] carries function of enlargement of size(vivardhana). If these functions are carried out in normal proportion, the body's normal structure (shareera) is formed. The defective proportion or functioning can adversely affect embryogenesis and result in congenital anamolies. [Su.Sa. Sharira Sthana 5/3] More specifically, [[vayu]] and [[akasha]] cause anatomical deformities in children. [Bhela Sa Sharira Sthana 3/15-16]
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===Role of [[dosha]]===
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Vitiation of all three [[dosha]] during pregnancy can cause congenital disorders. [A. H. Sharira Sthana 1/6] [[Vata]] [[dosha]] plays key role as controller of all activities and anatomical shapes (akruti) of the embryo (garbha). [Cha. Sa. [[Sutra Sthana]] 12/8], [Su. Sa. Sharira Sthana 2/50-52]
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===Role of [[ dhatu]]===
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The structural and functional integrity of maternal reproductive organs especially the uterus is having a great role in the growth and development of the fetus. The quality of [[rasa dhatu]] of the mother and its transportation to the fetus plays a vital role.The placenta (apara) and umbilical cord (nabhi nadi) also play crucial role in the nourishment of fetus (garbha poshana). The disorder of these structural entities certainly affects the fetus and leads to some congenital deformities.
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===Mental status of mother===
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The mental status of the mother during pregnancy can influence fetal growth and development.The psychological and cognitive development of fetus depends on the psychological status of the mother and the topics listened to by the pregnant woman.[A.S. Sharira Sthana 1/66]  And also, the importance of maintaining the positive psychological status of mother while treating the fetal growth related ailments like intra uterine growth restriction is being emphasized.[A.H. sharira Sthana 2/20]
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===Diet and lifestyle of the mother ===
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The harmful diet and lifestyle factors followed by mothers that can adversely affect progeny (garbhopaghatakara bhavas) are described below. [Cha. Sa. [[Sharira Sthana]] 8/21] More research studies are needed to find out exact genetic connections in the causes and their effects on progeny.
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===Causes of premature birth or atrophy or emaciation of fetus ===
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* Sitting in awkward positions, on uneven and hard seats
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* Suppressing the urge to pass flatus, urine, and defecation
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* Indulgence in intensive or extreme forms of physical activities
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* Excessive consumption of pungent and hot food items or less quantity of food than needed
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===Causes of miscarriage ===
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* Repeated trauma or injuries, looking down from heights (e.g., from mountain-tops or cliffs, deep wells, etc.)
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* Traveling long distances in excessively jerky carriages
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* Prolong exposure to  loud and unpleasant noise
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===Causes of mental retardation and psychiatric disorders in child ===
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* Excess sleeping in open air or walking at night leads to the birth of a mentally challenged child.
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* Indulgence in too many quarrels and fights can lead to epilepsy in a child.
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* Excess indulgence in coitus (or a nymphomaniac) leads to the birth of a truant with a passion for women.
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* Constant grief in pregnancy would give birth to a timid, or under-developed, or short-lived child.
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* A woman who always thinks ill of others gives birth to a delinquent or an anti-social child.
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* A woman who is a thief will give birth to a lazy child who is wicked and inept.
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* An intolerant woman would give birth to a child who is of fierce, deceitful, and jealous nature.
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===Lifestyle-related causes ===
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* A woman who sleeps for long hours would give birth to a dull and unwise child with poor digestive capacity.
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* A woman addicted to wines gives birth to a child who is ever-thirsty and fickle-minded.
  
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==Causes of congenital disorders==
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===Dietary causes ===
  
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The causative factors for congenital disorders can be analyzed in physical, mental and spiritual dimensions.
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* A woman who consumes flesh and meat of godha (iguana) would give birth to a child afflicted with stones or shanairmeha (a type of urinary disorder where dribbling is seen)
  
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All these causes can be attributed as a defect in any of the six factors (shad bhava) which are the sources of origin of embryo (garbha).  
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* A woman who consumes pork frequently would give birth to a child with red eyes, rough body-hair, and prone to suffering from severe respiratory disorders.
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The six factors are,                                     
 
 
   
 
   
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1. Maternal (matruja)
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* A woman who used to consume fish excessively would give birth to a child with lagophthalmos and related eye disorders
  
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2. Paternal (pitruja)
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* A woman used to eating many sweets is prone to giving birth to a dumb or excessively obese child or a diabetic child.  
  
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3. Soul (atmaja)
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* A woman fond of sour food items is prone to giving birth to an offspring suffering from bleeding disorders or diseases of the skin and eyes.
  
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4. Mind (satvaja)
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* A woman who consumes more salt or salty food articles may give birth to a child with early onset of wrinkles, grey hair, or baldness.  
  
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5. Wholesomeness (satmyaja)
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* A woman used to pungent substances in excess may give birth to a weak child, deficient in semen and impotent.
  
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6. Nutritional component (rasaja)
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* A woman using bitter substances in excess may give birth to a child with emaciated, weak or undeveloped body.  
  
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The minor defects will lead to the congenital abnormalities of the fetus and the major defects lead to abortion or the death of the fetus. [Cha. Sa. [[Sharira Sthana]] 4/28-29]
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* A woman habituated to excessive use of astringents may give birth to a child with a blackish complexion, suffering from constipation and udavarta (misperistalsis).
  
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These causes can be broadly classified in relation to
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[Cha.Sa. Sharira Sthana 8/21]
  
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1) Preconception period
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The effect of diet taken by the mother vitiating particular [[dosha]] is described. [A. S. Sharira Sthana 2/54-56]
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A systematic review shows that parental alcohol exposures are significantly associated with the risk of congenital heart diseases in offspring. This highlights the necessity of improving health awareness to prevent alcohol exposure during preconception and conception periods.<ref>Zhang S, Wang L, Yang T, Chen L, Zhao L, Wang T, Chen L, Ye Z, Zheng Z, Qin J. Parental alcohol consumption and the risk of congenital heart diseases in offspring: An updated systematic review and meta-analysis. Eur J Prev Cardiol. 2020 Mar;27(4):410-421. doi: 10.1177/2047487319874530. Epub 2019 Oct 2. PMID: 31578093.</ref>
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===Effect of maternal diseases upon the fetus===
  
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2) Antenatal period
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The affliction of the body part of the pregnant woman, either by vitiation of [[dosha ]] or trauma, leads to the affliction of the identical part of the fetal body. [ Su. Sa. Sharira Sthana 3/17] Maternal autoantibodies can cross the placenta and cause fetal damage. For example, fetal thyroid goiter can be developed in response to maternal Graves' disease.<ref>Panaitescu AM, Nicolaides K. Maternal autoimmune disorders and fetal defects. J Matern Fetal Neonatal Med. 2018;31(13):1798‐1806. doi:10.1080/14767058.2017.1326904</ref>
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===Effect of non-fulfillment of longings/desires of the mother during pregnancy (dauhruda vimanana)===
  
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3) Intra-partum period
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The fetus expresses desires through mother. Hence the desires of the pregnant woman (dauhruda) should always be fulfilled. Any negligence or non-fulfillment can cause abnormalities or even death of the fetus. Suppression of desires vitiates [[vayu]], and produces various diseases, abnormalities in the fetus, or even death. [Cha. Sa. [[Sharira Sthana]] 4/25]
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Various studies indicate that mental illness and neurocognitive decline are prevalent co-morbidities in the adolescent and adult population with congenital heart diseases (CHD).<ref>Khanna AD, Duca LM, Kay JD, Shore J, Kelly SL, Crume T. Prevalence of Mental Illness in Adolescents and Adults With Congenital Heart Disease from the Colorado Congenital Heart Defect Surveillance System. Am J Cardiol. 2019;124(4):618‐626. doi:10.1016/j.amjcard.2019.05.023</ref> <ref>Keir M, Ebert P, Kovacs AH, et al. Neurocognition in Adult Congenital Heart Disease: How to Monitor and Prevent Progressive Decline. Can J Cardiol. 2019;35(12):1675‐1685. doi:10.1016/j.cjca.2019.06.020 </ref>
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=== Environmental factors=== 
  
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== During Preconception Period==
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Environmental conditions can play a role in fetal development. A retrospective cohort study reported a significant positive association between soil cadmium and air pollution evaluated by air quality index (AQI) and level of screening serum TSH in congenital hypothyroidism patients. It is inferred that the interaction of genetic, autoimmune, familial, and environmental factors with each other could have an influence on neonatal thyroid function.<ref>Hashemipour, M., Kelishadi, R., Amin, M.M. et al. The association between familial and environmental factors and prevalence of congenital hypothyroidism in center of Iran. Environ Sci Pollut Res (2020). https://doi.org/10.1007/s11356-020-10959-x</ref>
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</div>
  
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The selection of a partner with desirable qualities is the prime step in the prevention of congenital disorders.
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==Factors related to intra partum period==
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<div style="text-align:justify;">
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Consequences of inappropriate bearing down efforts by the mother:
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If bearing down efforts are made in the absence of real labour pains, deafness, dumbness, dislocation of mandible, head and neck diseases, cough, dyspnoea, emaciation, and abnormal location of the body parts of the child are likely to occur. [ Su. Sa. Sharira Sthana 10/9]
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</div>
  
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The following are the guidelines for selection of an ideal partner as per Ayurveda.
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==Classification of congenital disorders ==
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<div style="text-align:justify;">
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The congenital disorders are classified in  two major categories. [ Su. Sa. Sutra Sthana 24/5]
  
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*The partner should be belonging to a different clan(gotra).[ Cha. Sa. [[Sharira Sthana]] 2/3]
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'''1) Due to genetic defects (aadibalapravrutta):'''
  
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*Consanguinity should be avoided.  
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These include maternal (matruja) or paternal (pitruja) genetic factors. These can be termed as ‘pre-conception causes’.  
  
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*Should not have any hereditary disorders or familial traits.
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Examples:
  
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*Should not be suffering from any contagious diseases.
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* Skin lesions (kushtha): Skin lesions resembling the petal of lotus(pundarika),  fruit of Abrus pricatorius (kakanaka)[Su. Sa. Nidana Sthana 5/19] and congenital skin patches of different size, shape and colour.[Su. Sa.  Nidana Sthana 13/41-44]
  
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*Should possess attractive physical characters.
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* Hemorrhoids (arsha)[ Su. Sa. Sutra Sthana 24/5]
  
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*Should not be handicapped.
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* Obstinate urinary disorders (prameha)[ Su. Sa. Sutra Sthana 24/5]
  
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*Should be healthy and follow good health habits.
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* Emaciation (karshya/kshaya) [Dalhana, Su. Sa. Sutra Sthana 24/5]
  
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*Should keep morality and good conduct. [A. S. Shrira Sthana 1/3]
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* Shandi yoni vyapad (female without sexual desire and undeveloped breasts) is caused due to abnormalities in male and female gametes (beeja dosha) and affliction of the uterus by vitiated vata dsoha. [Cha. Sa. [[Chikitsa Sthana]] 30/34-35] This condition is similar to the chromosomal disorder known as “Turner’s syndrome”.
  
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===Physical Factors ===
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* The defects in the sperm (shukra) cause deformities in factors related to paternal origin. [Cha. Sa. [[Sharira Sthana]] 4/30-31]
  
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*Abnormalities of sperm and ovum (beeja) [Cha. Sa. [[Sharira Sthana]] 2/29]
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'''2) Disorders due to faulty diet and lifestyle habits of mother, especially during the prenatal period (janmabalapravrutta):'''
  
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*Defective reproductive physiology (shukra dhatu)of parents.[Cha. Sa. [[Sutra Sthana]] 28/18]
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These may be either due to nutritional factors (rasakruta) or psychological factors (duahruda apacharakruta). These can be termed as ‘post-conception causes’.
  
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*Defective reproductive anatomy of parents (ashaya dosha)[Cha. Sa. [[Sharira Sthana]] 2/29]
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Examples:
  
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*Vitiation of Tridosha[A. H. Sharira Sthana 1/6]
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* Limb deformities (pangu)
  
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'''Role of reproductive physiology (shukra dhatu) of parents'''
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* Congenital blindness (jatyandhya)
  
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The abnormality (vikruti)or physical deformity (virupata) in the fetus is mentioned among the diseases of vitiated reproductive tissue ([[shukra dhatu]])especially when the vitiated [[vata]] getting lodged in it.[Cha Sa [[Sutra Sthana]] 28/28], [Cha. Sa. [[Chikitsa Sthana]] 28/34]
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* Deafness (badhira)
  
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'''Abnormalities in gamates (beeja dosha)'''
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* Dumbness (mooka)
  
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The genetic factors like defects in chromosomes or genes are explained in Ayurvedic classics in the concept of chromosomes/gene (beejabhaga) and genetic material-DNA (beejabhaga avayava). It is explained on the basis of maternal (matruja) and paternal (pitruja) factors.
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* Nasal voice (minmina)
  
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If the genes in the chromosomes (beejabhaga) which are responsible for the formation of a particular organ get vitiated or mutated (vikruta), this will result in the improper formation of the respective organ.[Cha. Sa. [[Sharira Sthana]] 3/17]
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* Dwarfism (vaamana)
  
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When a woman gets conceived in a state that her ovum (shonita) and uterus (garbhashaya) were not completely vitiated but simply afflicted by the circulating aggravated [[doshas ]]because of her improper regimens, one or many of the organs of the fetus which derive from the maternal source get deformed. This is the explanation given for the congenital deformities in organs of maternal origin. [Cha. Sa. [[Sharira Sthana]] 4/30]
+
The following  table shows comprehensive information about genetic disorders and their consequences on progeny.  
  
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The yoni vyapad namely “shandi” is an example for the abnormalities in gametes (beeja dushti) leading to the deformity of anatomical structures (ashaya) in fetus due to affliction of [[vata]] leading to the female progeny with underdeveloped primary and secondary sexual characters [Cha. Sa. [[Chikitsa Sthana]] 30/34-35] which is generally correlated by many scholars with the chromosomal disorder known as “turner syndrome”.
 
−
Similarly the defect in the sperm (shukra) in various levels causes deformities related to paternal origin. [Cha. Sa. [[Sharira Sthana]] 4/30-31]
 
 
{| class="wikitable"
 
{| class="wikitable"
 
|-
 
|-
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! !! Vitiated factor !! Outcome !! Possible modern co-relation
+
!Gender!!Vitiated factor !! Outcome !! Possible modern co-relation
 
|-
 
|-
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|'''Female''' ||Genes in maternal chromosomes(beejabhaga of shonita), responsible for the formation of uterus (garbhashaya) || female not capable of reproduction (vandhya) || Agenesis of uterus/adnexa leading to infertility
+
|Female ||Genes in maternal chromosomes(beejabhaga of shonita), responsible for the formation of uterus(garbhashaya)||female not capable of reproduction, infertile female(vandhya) || Agenesis of uterus/adnexa leading to infertility
 
|-
 
|-
−
| ||Some of the DNA bases(beejabhaga avayva) in the genes of maternal chromosomes responsible for the production of uterus (garbhashaya)|| can conceive, but deliver only dead fetuses (putipraja) || Recurrent pregnancy loss due to genetic disorders.
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| Female || Some of the DNA bases (beejabhaga avayava) in the genes of maternal chromosomes responsible for the formation of uterus (garbhashaya) || can conceive, but deliver only dead fetus (putipraja)|| Recurrent pregnancy loss due to genetic disorders.
 
|-
 
|-
−
| || Some of the DNA bases(beejabhaga avayva) in the genes of maternal chromosomes responsible for the production of uterus (garbhashaya) as well as  those responsible for developing feminine characters || incomplete female (varta) || Gonadal dysgenesis Eg:-
+
| Female ||Some of the DNA bases(beejabhaga avayva) in the genes of maternal chromosomes responsible for the formation of uterus (garbhashaya) as well as  those responsible for developing feminine characters ||incomplete female/ transgender (varta)|| Gonadal dysgenesis Eg:-Turner Syndrome,Swyer Syndrome
−
Turner Syndrome
 
−
Swyer Syndrome
 
 
|-
 
|-
−
| '''Male''' ||Genes in paternal chromosomes(beejabhaga of shukra), responsible for the production of sperms(shukra) ||sterile male (vandhya) || Male Infertility due gonadal agenesis
+
|Male || Genes in paternal chromosomes(beejabhaga of shukra), responsible for the formation of sperms(shukra) || sterile male (vandhya) ||Male Infertility due gonadal agenesis
 
|-
 
|-
−
| || Some of the DNA bases(beejabhaga avayva) in the genes of paternal chromosomes responsible for the production of sperms(shukra)|| offspring dies after delivery (putipraja) || Recurrent pregnancy loss due to genetic disorders  
+
| Male || Some of the DNA bases(beejabhaga avayva) in the genes of paternal chromosomes responsible for the formation of sperms(shukra) || offspring dies after delivery (putipraja) || Recurrent pregnancy loss due to genetic disorders  
 
|-
 
|-
−
| || Some of the DNA bases(beejabhaga avayva) in the genes of paternal chromosomes responsible for the production of sperms(shukra) as well as those responsible for developing masculine characters.||incomplete male (trinaputrika) || Gonadal dysgenesis
+
|Male || Some of the DNA bases (beejabhaga avayava) in the genes of paternal chromosomes responsible for the formation of sperms(shukra) as well as those responsible for developing masculine characters. ||incomplete male /transgender (trinaputrika)|| Gonadal dysgenesis
 
|}
 
|}
  
−
A history of either several spontaneous abortions or offspring with multiple anomalies is an indication for chromosome analyses on both parents. Among known gene disorders, the severity of X-linked disorders differs in males and females. Gene mutations originate more frequently among males, and the frequency increases with advancing paternal age, particularly implicated are the Marfan syndrome, achondroplasia, hemophilia A, and the Lesch-Nyhan syndrome.<ref>Congenital deformities and chromosomal disorders: maternal versus paternal age. Fertil Steril. 1977;28(8):888. doi:10.1016/s0015-0282(16)42748-2</ref>
+
Some genetic conditions are caused by mutations in only a single gene. These conditions are usually inherited in different patterns, depending on the type of gene.  
  
−
Some genetic conditions are caused by mutations in only a single gene. These conditions are usually inherited in different patterns, depending on the type of gene.
+
The following table shows some examples.  
  
 
{| class="wikitable"
 
{| class="wikitable"
 
|-
 
|-
−
!Pattern of inheritance !! Description !! Example
+
!Pattern of inheritance !! Description !! Example
 
|-
 
|-
−
| X-linked dominant ||•By mutations in genes on the X chromosome.
+
|X-linked dominant || *By mutations in genes on the X chromosome,
−
•In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
+
* In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
−
•In males, a mutation in the only copy of the gene in each cell causes the disorder.
+
 
−
•In most cases, males experience more severe symptoms of the disorder than females.      
+
* In males, a mutation in the only copy of the gene in each cell causes the disorder.
−
||fragile X syndrome
+
 
 +
* In most cases, males experience more severe symptoms of the disorder than females.  
 +
|| fragile X syndrome
 
|-
 
|-
−
|X-linked recessive || •Caused by mutations in genes on the X chromosome.
+
|X-linked recessive ||* Caused by mutations in genes on the X chromosome.
  
−
•In females, a mutation would have to occur in both copies of the gene to cause the disorder.
+
* A mutation would have to occur in both copies of the gene to cause the disorder in females.
  
−
•In males, one altered copy of the gene in each cell is sufficient to cause the condition.
+
* In males, one altered copy of the gene in each cell is sufficient to cause the condition.
  
−
•males are affected by X-linked recessive disorders much more frequently than females.
+
* Males are affected by X-linked recessive disorders much more frequently than females.  
−
||hemophilia, Fabry disease
+
 
 +
|| hemophilia, Fabry disease
 
|-
 
|-
−
|Y-linked || •Caused by mutations in genes on the Y chromosome.
+
| Y-linked || * Caused by mutations in genes on the Y chromosome.
  
−
•So, the mutation can only be passed from father to son.
+
* So, the mutation can only be passed from father to son.
−
||Y chromosome infertility, some cases of Swyer syndrome
+
|| Y chromosome infertility, some cases of Swyer syndrome
 
|-
 
|-
−
||Autosomal dominant || •One mutated copy of the gene in each cell is sufficient for a person to be affected.
+
|Autosomal dominant || * One mutated copy of the gene in each cell is sufficient for a person to be affected.
  
−
•An affected person can inherit the condition from an affected parent.  
+
* An affected person can inherit the condition from an affected parent.  
  
−
•the condition may result from a new mutation in the gene (e, without any family history)
+
* the condition may result from a new mutation in the gene (e, without any family history)  
−
||Huntington disease, Marfan syndrome
+
 
 +
|| Huntington disease, Marfan syndrome
 
|-
 
|-
−
||Autosomal recessive ||Both copies of the gene in each cell should have mutations.
+
|Autosomal recessive || * Both copies of the gene in each cell should have mutations.
  
−
•Typically not seen in every generation of an affected family.
+
* Typically not seen in every generation of an affected family.
−
||cystic fibrosis, sickle cell disease
+
|| cystic fibrosis, sickle cell disease
 
|-
 
|-
−
||Codominant || •Two different versions (alleles) of a gene are expressed.
+
|Codominant || * Two different versions (alleles) of a gene are expressed.
  
−
•Both alleles influence the genetic trait or determine the characteristics of the genetic condition.
+
* Both alleles influence the genetic trait or determine the characteristics of the genetic condition.
−
|| ABO blood group, alpha-1 antitrypsin deficiency
+
|| ABO blood group, alpha-1 antitrypsin deficiency
 
|-
 
|-
−
|Mitochondrial ||•Also known as maternal inheritance,
+
| Mitochondrial || * Also known as maternal inheritance
  
−
•Applies to the genes in mitochondrial DNA
+
* Applies to the genes in mitochondrial DNA
  
−
•As only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial mutations to their children.
+
* Only females can pass on mitochondrial mutations to their children as only egg cells contribute mitochondria to the developing embryo.
 
||Leber hereditary optic neuropathy (LHON)
 
||Leber hereditary optic neuropathy (LHON)
 
|}
 
|}
  
−
Many health conditions are caused by the combined effects of multiple genes which are known as polygenic. It may be by the interactions between genes and the environment also.  
+
Many health conditions are caused by the combined effects of multiple genes which are known as polygenic. It may be by the interactions between genes and the environment also. For example, heart disease, type 2 diabetes, schizophrenia, certain types of cancer etc.<ref>https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns</ref>
−
Example- heart disease, type 2 diabetes, schizophrenia, certain types of cancer etc.<ref>https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns</ref>
 
  
−
==Defective genital organs and supportive structures in mother ==
+
==Diagnosis of Congenital disorders==
−
Excellence of uterus/female reproductive tract (kshetra) is an essential factor for the normal growth and development of fetus. The accessory structures like placenta (apara) and umbilical cord(nabhi nadi) also play a great role in nourishment of fetus(garbha poshana). Any defect in these structural entities certainly affects the fetus and may lead to some congenital deformities.
+
<div style="text-align:justify;">
 +
===History of parents===
  
−
===Environmental/ Epigenetic Factors===
+
A careful history of either several spontaneous abortions or offspring with multiple anomalies is an indication for chromosome analyses on both parents. Among known genetic disorders, the severity of X-linked disorders differs in males and females. Genetic mutations originate more frequently among males, and the frequency increases with advancing paternal age. This is seen in Marfan syndrome, achondroplasia, hemophilia A, and the Lesch-Nyhan syndrome.<ref>Congenital deformities and chromosomal disorders: maternal versus paternal age. Fertil Steril. 1977;28(8):888. doi:10.1016/s0015-0282(16)42748-2</ref>
−
'''Role of time factor (kala)'''
+
The genetic analyses in such cases can diagnose probable genetic disorders in progeny.
  
−
The term time (kala) can be interpreted in many ways.
+
'''Check up before pregnancy:'''
  
−
*Seasonal variation which is divided in to two in the basic manner as northward movement of the sun (adana kala) and southward movement of the sun  (visarga kala) and their effects on the growth and development of fetus may be considered here.
+
The genetic diseases like cystic fibrosis, fragile X syndrome, sickle cell disease, Tay-Sachs disease, Spinal muscular atrophy can be identified in carrier parents before pregnancy.  It can also be done in high-risk category parents who are susceptible to disorders due to ethnicity. Common susceptible groups that may be carriers include non-Hispanic whites (cystic fibrosis), people of Eastern European Jewish descent (Tay-Sachs disease, cystic fibrosis, and others), and those of African, Mediterranean, and Southeast Asian backgrounds (sickle cell disease). <ref>Available from https://www.webmd.com/baby/pregnant-genetic-testing cited on 17/06/2021</ref> 
  
−
*'''Age of the parents:''' The minimum age for achievement of successful conception is described as twenty five for male and sixteen for female. Since both the partners are full of valour and vigor at this age, the born child also possesses these qualities. [Su. Sa. Sutra Sthana 35/13].  It is recommended that very young and very old women should not be impregnated. [Cha. Sa. [[Sharira Sthana]] 8/6]. The consequences of not following the recommended age of parents include intrauterine death of fetus, neonatal death, ill health and deformed body parts of  the child.[A. S. Sharira Sthana 1/5]
+
'''During pregnancy:'''  
  
−
Pregnancy in very young age causes premature births. Aneuploidy (abnormal chromosome number) is the principal hereditary abnormality associated with either parental age. Risk increases logarithmically with advancing parental age; at age 40, the risk is about 2%. In Down's syndrome, maternal age is a primary factor, but occasionally the father can be implicated.<ref>Congenital deformities and chromosomal disorders: maternal versus paternal age. Fertil Steril. 1977;28(8):888. doi:10.1016/s0015-0282(16)42748-2</ref>
+
The risk of Down syndrome, trisomy 18, and spine and brain problems can be diagnosed between 10 and 13 weeks of pregnancy by check up. The cell free fetal DNA testing, AFP (alphafetoprotein) test, Maternal serum quad screen, Amniocentesis and Chorionic Villus Sampling (CVS) are done in susceptible cases.
  
−
*'''Day of sexual intercourse:''' As per the menstrual cycle of the women, proliferative phase (rutukala) is considered as the most fertile period. During the bleeding phase of menstrual cycle, coitus is prohibited. Acharya sushruta has explained the consequences of coitus in first three days of menstrual cycle as below.[Su. Sa .Sharira sthana 2/31]
+
'''Antenatal anomaly scan:'''
−
{| class="wikitable"
+
 
−
|-
+
An anomaly scan or mid-pregnancy scan is done to detect significant physical abnormalities in the growing baby. It is an ultrasound scan done between the 18th and 21st week of pregnancy. It helps detect congenital disorders like anencephaly, diaphragmatic hernia, gastroschisis, exomphalos, open spina bifida, bilateral renal agenesis, lethal skeletal dysplasia, Edwards’ syndrome or T18, Patau’s syndrome or T13, cleft lip and serious cardiac abnormalities.<ref>Available from https://www.motherhoodindia.com/specialities-pregnancy-care/pregnancy-scans/anomaly-scan-detail/ cited on 17/06/2021 </ref>
−
!Menstrual Day!! Effect on the child
+
−
|-
+
===Clinical examination===
−
|First || No pregnancy or pseudocyesis, intrauterine death or death immediately after delivery
 
−
|-
 
−
|Second ||Either abortion or intrauterine death or death immediately after birth or within a few days of delivery
 
−
|-
 
−
|Third ||Deficient or defective body parts and short lived.
 
−
|}
 
  
−
===Psychological and behavioral factors===
+
Clinical diagnosis of congenital disorders is based on the three-fold diagnostic tools.
−
It is mentioned that pleasant state of mind is the prime requirement for conception. [Cha. Sa. [[Sutra Sthana]] 25/40]  
+
−
*'''Contra indications for sexual intercourse'''
+
'''1) Inspection (darshana):''' A careful neonatal examination after birth can identify visible structural deformities. The examination findings in each part of the neonate body for the signs which indicate life span. [Cha. Sa. [[Sharira Sthana]] 8/51]
  
−
It is recommended to avoid sexual intercourse when either of the partners is suffering from hunger, thirst etc. or frightened, averse, sorrow-stricken, angry, not in good relationship with the partner, not having desire for sex or having excessive desire for sex. These mental status during the act of coitus adversely affect the conception as well as the quality of offspring. [Cha. Sa. [[Sharira Sthana]] 8/17]
+
'''2) Palpation (sparshana):''' Any structural deformity or anatomical abnormality can be easily detected by palpation. [Cha. Sa. [[Sharira Sthana]] 8/43], [A.Hr. Uttara Sthana 1/1]
  
−
*N'''on observance of regimens during menstruation (Rajaswala Paricharya)'''
+
'''3) Interrogation (prashna):''' The detailed history of both the parents regarding the family history, personal history, medical history should be taken to rule out or to find the cause of a congenital disorder in the child. It can be useful in diagnosis and prevention of hereditary disorders.
 +
</div>
  
−
There are some activities which are recommended to be avoided during bleeding phase of menstrual cycle and the after-effect of non-observance of these regimens by the lady is said to be reflected on the future progeny. [Su. Sa. Sharira Sthana 2/25]
+
==Treatment ==
−
{| class="wikitable"
+
<div style="text-align:justify;">
−
|-
+
Most of congenital disorders are incurable. The patients shall be well informed about the prognosis before treating such diseases. The measures to minimize the symptoms of the particular disorder and improve the quality of life should be the goal of treatment.
−
!Don’ts during menstruation  !! Possible defects/abnormalities in future child
+
   
−
|-
+
===Surgical procedures:===
−
|Sleeping during day time(divaswapna)|| Over sleepy
 
−
|-
 
−
|Use of collyrium (anjana) ||Blind
 
−
|-
 
−
|Weeping / Crying ( rodana)|| Visual disturbance
 
−
|-
 
−
|Massage (abhyanga) || Skin disorders
 
−
|-
 
−
|Nail pairing (nakhakartana) || Deformity in nails
 
−
|-
 
−
|Chasing / Running (dhavana)|| Reckless, indecisive
 
−
|-
 
−
|Excessive Laughing || Discoloration (black) of teeth, lips and tongue
 
−
|-
 
−
|Indulging in long conversations || Over talkative nature
 
−
|-
 
−
|Listening of different kinds of loud voices ||Deaf
 
−
|-
 
−
|Excessive combing of hairs || Bald
 
−
|-
 
−
|Nasal instillation of medicine (nasya) || Menstrual abnormalities (in female child)
 
−
|-
 
−
|Excessive Exposure to draughts and exertion || Insanity
 
−
|}
 
  
−
===Spiritual factors: ===
+
Some surgical or para surgical measures are advised in case of minor structural deformities like Stricture of uretra (nirudha prakasha)[Su. Sa. Nidana Sthana 13/52-54]  and imperforate anus (sannirudha gudam) [Su. Sa. Nidana Sthana 13/55-56].
−
*Sinful acts and atheistic attitude of parents [Su. Sa Sharira Sthana 2/50-52]
+
The description of the surgical procedure is also available for the treatment of these congenital disorders.[Su. Sa. Chikitsa Sthana 20/43-47]
  
−
*Bad deeds of previous life(atma –karma dosha) [Cha. Sa. [[Sharira Sthana]] 2/29]
+
In congenital skin patches that are small,round, painless, slightly raised, light red coloured and smooth (known as jatumani), blackish, minute as in sesame seed size (tilakalaka)etc. cauterization using caustic alkali(kshara karma) or thermal cauterization (agnikarma) is advised.[Su. Sa. Chikitsa Sthana 20/32]
  
−
*Unrighteousness(adharma) [Su. Sa. Sharira Sthana 3/36]
+
In other skin changes, which are circular in shape, covering a large or small area, bluish black or white in colour (known as nyaccha), bloodletting therapy (sira vyadha) as per convenience is advised. [Su. Sa. Chikitsa Sthana 20/33]
 +
</div>
  
−
==During Antenatal Period==
+
==Preventive aspects of congenital disorders==
−
===Physical Factors===
+
<div style="text-align:justify;">
−
'''Role of [[panchamaha bhuta]]'''
+
Pre-conception guidelines are recommended for healthy progeny and to prevent congenital disorders. The guidelines include the selection of partners, purification procedures, and prenatal care.
  
−
In embryo (garbha), division (vibhajana), metabolism (pachana), moistening (kledana), solidification (samhanana) and increase in size (vivardhana) are done by [[vaju]], [[agni]], [[jala]], [[pridhvi]], and [[akasha]] respectively.[Su.Sa. Sharira Sthana 5/3]
+
===Guidelines for selection of partner===
 +
 +
The selection of a partner with desirable qualities is the prime step in the prevention of congenital disorders. The following are the guidelines for the selection of an ideal partner as per Ayurveda text.
  
−
Acharya Bhela specifically mentions the role of [[vayu]] and [[akasha]] in the birth of a child having abnormal anatomy.[ Bhela Sa Sharira Sthana 3/15-16].
+
* The partner should belong to a different clan (gotra).[ Cha. Sa. [[Sharira Sthana]] 2/3]
  
−
'''Role of [[dosha]]'''
+
* Consanguinity in sexual relationships should be avoided.
  
−
Vitiation of all the three doshas during pregnancy is the ultimate cause of congenital disorders. [A. H. Sharira Sthana 1/6] Among them [[vata]] is having the main role as it is the controller of all kind of activities and especially the anatomical formation (akruti)of embryo(garbha) is brought out by [[vayu]][Cha. Sa. [[Sutra sthana]] 12/8], [Su. Sa. Sharira Sthana 2/50-52]
+
* Either partner should not have any hereditary disorders or familial traits.
  
−
'''Diet and life style of the mother:'''
+
* Either partner should not be suffering from any contagious or sexually transmitted diseases.
  
−
Congenital abnormalities due to use of diet or mode of life described under the factors adversely affecting the pregnancy outcome (garbhopaghatakara bhavas) are mentioned in the table. [Cha. Sa. [[Sharira Sthana]] 8/21]
+
* Either partner should not be handicapped.
−
{| class="wikitable"
 
−
|-
 
−
!Dietetics or mode of life !! Effect on the fetus or child
 
−
|-
 
−
|Squatting or sitting in abnormal position, suppression of urges of defecation, urination or flatus, improper and excessive exercise, use of pungent, hot edibles or less quantity of food || Intrauterine death of fetus /premature delivery /abortion / growth restriction of fetus.
 
−
|-
 
−
|Trauma and compression (on lower abdomen), peeping or falling in deep pit or well, riding in jerking vehicle, listening to unpleasant words.
 
−
||Premature delivery or abortion.
 
−
|-
 
−
|Sleeping in supine position with stretched extremities.||Umbilical cord encircles the neck
 
−
|-
 
−
|Sleeping uncovered in open place or night walking ||Insane or extravagant child
 
−
|-
 
−
|Oral or physical strife or pugnacious ||Epileptic child
 
−
|-
 
−
|Over indulgence in sex || Deformed, impudent or lazy and henpecked
 
−
|-
 
−
|Always distressed or grieved || Poltroon, slender, short lived, having less digestive power etc.
 
−
|-
 
−
|Psychologically malevolent or constantly worried.||Nature of troubling others, jealous and henpecked.
 
−
|-
 
−
|Thief or robber ||Industrious, spiteful, idle
 
−
|-
 
−
|Intolerant || Furious, deceitful, insidious, calumnious.
 
−
|-
 
−
|Over sleepy || Sleepy, ignorant and possess less digestive power
 
−
|-
 
−
|Using wine daily ||Over thirsty, short memory and flicking mind.
 
−
|-
 
−
|Often use of meat of iguana.||Suffers from bladder stone, gravel or slow stream of urine.
 
−
|-
 
−
|Often use of hog’s meat(pork) ||Red eyes, rough body hairs, and obstructed breathing or snoring.
 
−
|-
 
−
|Daily use of fish || Fixed eyes or delayed blinking of the eye lids
 
−
|-
 
−
|Excessive use of sweet articles daily(except milk)|| Suffers from urinary disorders and diabetes mellitus (prameha), obese or dumb child
 
−
|-
 
−
|Excessive use of sour articles daily || Suffers from bleeding disorders (raktapitta),skin and eye disorders
 
−
|-
 
−
|Excessive use of salty articles daily || Early wrinkling ,graying of hairs and baldness
 
−
|-
 
−
|Excessive use of pungent articles daily || Weak, possess less quantity of semen(shukra) , infertile
 
−
|-
 
−
|Excessive use of bitter articles daily || Suffers from emaciation or edema, weak , scraggy and less digestive power
 
−
|-
 
−
|Excessive use of astringent articles daily || Swarthy, suffers from flatulence (anaha) and eructation (udavarta)
 
−
|}
 
  
−
Acharya Vagbhata mentions the effect of diet vitiating particular [[dosha]] taken by the mother. [A. S. Sharira Sthana 2/54-56]
+
* Both should possess attractive physical characters.
  
−
{| class="wikitable"
+
* Both partners should be healthy and follow good health habits.
−
|-
 
−
!Type of Diet !! Effect on Child
 
−
|-
 
−
|[[Vata]] vitiating diet || Makes the child deaf, dumb, idiot, having hoarse or nasal voice, lame, humpbacked, dwarf, possessing less or more number of body parts, other abnormalities arising due to [[vata]].
 
−
Ex- Contracted ear pinna(kuchikarnaka)
 
−
|-
 
−
|[[Pitta]] vitiating diet|| Baldness, premature graying of hairs, absence of hair on face, tawny colour of skin, nail and hairs, other abnormalities of pitta
 
−
|-
 
−
|[[Kapha]] vitiating diet || skin disorders(kushta and kilasa),congenital presence of teeth
 
−
vitiligo (shwitra)* and anaemia (pandu)*
 
−
Tridosha vitiating diet Mixed presentation of all these abnormalities.
 
−
|}
 
−
*[A. Hr. Sharira Sthana 1/48]
 
  
−
'''Effect of maternal diseases upon the fetus'''
+
* Both should follow good morals and conduct.  [A. S. Sharira Sthana 1/3]
  
−
Whichever the part of the pregnant lady’s body is afflicted either by vitiation of [[doshas ]]or by trauma, the identical part of the fetal body also suffers from the same trouble.[ Su Sa Sharira Sthana 3/17]
+
These guidelines are essential to prevent the transmission of genetic disorders in the family.  
  
−
Maternal autoantibodies can cross the placenta and cause fetal damage. For example, fetal thyroid goiter can be developed in response to maternal Graves' disease.<ref>Panaitescu AM, Nicolaides K. Maternal autoimmune disorders and fetal defects. J Matern Fetal Neonatal Med. 2018;31(13):1798‐1806. doi:10.1080/14767058.2017.1326904</ref>
+
===Preventive and therapeutic protocol===
  
−
'''Environmental/Epigenetic Factors:'''
+
If either the parents or both of them have any hereditary disorders, the therapies are advised. [[Panchakarma]] procedures including therapeutic purgation ([[virechana]]) followed by administration of [[rasayana]] and [[vajikarana]] therapy can help to prevent or minimize genetic disorders in progeny. Suppose the first child is born with any kind of congenital disorder. In that case, the preventive protocol must be followed before planning for the next baby.
 +
</div>
  
−
*Time factor(kala dosha) [Cha. Sa. [[Sharira Sthana]] 2/29]
+
==Current research ==
 +
<div style="text-align:justify;">
 +
'''Contemporary approach:'''
  
−
*Nutritional and intrauterine environment [Cha. Sa. [[Sharira Sthana]] 2/29]
+
As per modern embryology, susceptibility to teratogenesis depends on the genotype of the conceptus and the manner in which this genetic composition interacts with the environment. The maternal genome is also important with respect to drug metabolism, resistance to infection, and other biochemical and molecular processes that affect the conceptus. Susceptibility to teratogens varies with the developmental stage at the time of exposure.  
  
−
'''Psychological and behavioral Factors:'''
+
The most sensitive period for inducing congenital disabilities is the third to eight weeks of gestation, the period of embryogenesis.<ref>Prof.Hari Hirdya Awasthi,Dr.Mohd.Ashraf Khan, Garbha sarira, Chaukhambha Orientalia. Varanasi; 1996. First edition.pg.136</ref> 
  
−
*Improper diet and lifestyle of mother(ahara –vihara dosha)[Cha. Sa. [[Sharira Sthana]] 2/29]
+
There are three phases of intrauterine growth. Zygote, embryo, and fetus.  
  
−
*Not satisfying the longings of pregnant lady(douhruda)[Su. Sa. Sharira Sthana 2/50-52]
+
'''1. The zygote phase or Period-I''' (weeks 1 – 2 after fertilization): It consists of cell division and implantation of this cell mass in the uterus. During this phase, teratogen would cause loss of the conceptus.
  
−
*The psychological and cognitive development of fetus depends on the psychological status of mother and father.[ A. S. Sharira Sthana 1/66]
+
'''2. The embryonic phase or Period II''' (weeks 3 – 8): In this period, most of the organ systems develop. This is the most vulnerable phase for major congenital malformations to occur.
  
−
'''Effect of non-fulfillment of longings/desires of mother during pregnancy (dauhruda vimanana):'''
+
'''3. The fetal phase / Period III''' (weeks 9 – 38): In this phase, further growth and elaboration of the organ systems take place. During this phase, various factors can result in minor or not-so-severe defects.
  
−
The desires of the fetus are expressed through mother and her longings (dauhruda) should always be fulfilled. Any negligence or non-fulfillment can cause abnormalities or even death of the fetus. Suppression of desires vitiates [[vayu]], which moves in the body of fetus and produces various diseases, abnormalities or even death. [Cha. Sa. [[Sharira Sthana]] 4/25].
+
Congenital disabilities occur due to three main reasons i.e.abnormal formation of tissues, abnormal forces on normal tissues, or destruction of normal tissues. Some of these defects may have a cascade effect and result in related anomalies or multiple anomalies (syndromes).<ref>Dhiman K, Kumar A, Dhiman KS. Shad Garbhakara Bhavas vis-a-vis congenital and genetic disorders. Ayu. 2010;31(2):175‐184. doi:10.4103/0974-8520.72384</ref>
  
−
Acharya Sushruta opines that non-fulfillment of desires produces the fetus which is hump-backed, crooked armed and legged, idiot, dwarf, having disfigured eyes or there is absence of eyes. Non fulfillment can harm both the mother and the fetus, specially suppression of desires related to specific sensory or motor organ (indriya) produces abnormality of corresponding sensory or motor organ (indriya)of the fetus.[Su. Sa. Sharira Sthana  3/18-21].
+
Nowadays, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is emerging as a treatment of choice for various congenital disorders.<ref>Faraci M, Giardino S, Bagnasco F, et al. Allogeneic hematopoietic stem cell transplantation in congenital disorders: A single-center experience. Pediatr Transplant. 2017;21(6):10.1111/petr.12997. doi:10.1111/petr.12997</ref>
 +
</div>
  
−
Various studies indicate that mental illness and neurocognitive decline are prevalent co-morbidities in the adolescent and adult population with Congenital Heart Diseases (CHD).<ref>Khanna AD, Duca LM, Kay JD, Shore J, Kelly SL, Crume T. Prevalence of Mental Illness in Adolescents and Adults With Congenital Heart Disease from the Colorado Congenital Heart Defect Surveillance System. Am J Cardiol. 2019;124(4):618‐626. doi:10.1016/j.amjcard.2019.05.023</ref>, <ref>Keir M, Ebert P, Kovacs AH, et al. Neurocognition in Adult Congenital Heart Disease: How to Monitor and Prevent Progressive Decline. Can J Cardiol. 2019;35(12):1675‐1685. doi:10.1016/j.cjca.2019.06.020</ref>
+
==Theses works done==
 +
<div style="text-align:justify;">
 +
1. M.N. Jaiswal (2003): Clinical role of indigenous drugs (Amalaki Rasayana and Gomeda Bhasma) in Kulaja Pandu (Thalassemia)-A scientific study, Dept. of Kaumarabhrutya., Shree Ayurved Mahavidhyalaya, Nagpur.
  
−
==During Intra-partum Period==
+
2. Ruchi Singh (2007): A study of disease Thalassemia (Anukta Vyadhi Ayurveda) and its management with Dhatri Avaleha, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.
−
*'''Consequences of inappropriate bearing down efforts by the mother:'''
 
  
−
It is advised not to bear down in the absence of true labour pains. If bearing down efforts are made in the absence of true labour pains, deafness, dumbness, dislocation of mandible, diseases of head and neck, cough, dyspnoea, emaciation and abnormal location of the body-parts of the child are likely to occur. [ Su. Sa. Sharira Sthana 10/9]
+
3. Jadhav Sahebrao B (2009): A study of disease Thalassemia (Anukta Vyadhi in Ayurveda) and its management with Triphaladi Avaleha as an adjuvant therapy, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.
  
−
==Current researches ==
+
4. Joban K. Modha (2009): A comparative pharmaco-pharmaceutical clinical study of Gandhakadi Yoga B on Iron overloading condition due to Raktavikruti, Deprtment of RSBK, I.PG.T & R.A, Jamnagar.
−
'''Contemporary approach:'''
 
  
−
As per modern embryology, susceptibility to teratogenesis depends on the genotype of the conceptus and the manner in which this genetic composition interacts with the environment.  
+
5. Pramod R. Yadav (2010): The pharmaceutical standardization of Gandhakadi Yoga and its effect on Thalassemic iron overload w.s.r. to Kadli as pathya, Deprtment of RSBK, I.PG.T & R.A, Jamnagar.
  
−
The maternal genome is also important with respect to drug metabolism, resistance to infection and other biochemical and molecular processes that affect the conceptus. Susceptibility to teratogens varies with the developmental stage at the time of exposure. The most sensitive period for inducing birth defects is the third to eight weeks of gestation, the period of embryogenesis.
+
6. Sagar Nalawade (2011): Pharmacological study of Amritasara Lohokta Dosha Nivaraka Dravya on iron overloading with special reference to Thalassemia Major, NIA, Jaipur.
  
−
There are three phases of intrauterine growth. Zygote, embryo, and fetus.  
+
7. Abhishek Y. Patalia (2011): A study of Beejadushtijanya Pandu and its management with Triphaladi Avaleha w.s.r. to Thalassemia, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.
  
−
1. The zygote phase — Period-I (weeks 1 – 2 after fertilization) consists of cell division and implantation of this cell mass in the uterus. During this phase, teratogen would cause loss of the conceptus
+
8. Raina Rathod (2013): A further clinical study on Beejadushtijanya Pandu-
 +
Thalassemia Major and with Triphaladi Avaleha, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.
  
−
2. The embryonic phase or Period II (weeks 3 – 8) most of the organ systems develop. This is the most vulnerable for major congenital malformations to develop.
+
9. Shailesh R. Rajgolkar (2014): A clinical study on Beejadushtijanya pandu
 +
(Thalassemia major) in children and its management with Musta-Triphaladi
 +
Avaleha, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.
  
−
3. The fetal phase / Period III (weeks 9 – 38) further growth and elaboration of the organ systems takes place. During this phase various factors can result in minor or not so severe defects.
+
10. Anjana A. goswami ( 2015) : A clinical study on Beejadushtijanya pandu
 +
(Thalasemia major) and its management with Gandhakadi yoga, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.
  
−
Birth defects occur due to three main reasons i.e,abnormal formation of tissues, abnormal forces on normal tissues or destruction of normal tissues. Some of these defects may have a cascade effect and result in a group of related anomalies or multiple anomalies (syndromes).  
+
11. O.T.M.R. Senani B kalawana (2016 ) : Management of Beejadushtijanya pandu(Thalasemia major) with Musta-triphladi avaleha and gandhkadi yoga, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.
−
Now a day, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the emerging as a treatment of choice for a variety of congenital disorders.
 
  
−
===Abbreviations ===
+
12. Rahul Gameti (2017): Further clinical study on Beejadushtijanya pandu
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<div style="text-align:justify;">
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(Thalasemia major)and its management with Gandhakadi yoga, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.
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Sa. = Samhita, Cha. = Charak, Su. = Sushruta, Ka. = Kashyapa, A. = Ashtanga, Hr. = Hridaya, S. = Sangraha,
 
  
 +
13. Bhumi Mori(2018) : Management of Beejadushtijanya Pandu (Thalassemia Major) with modified Musta-Triphaladi Avaleha and Gandhakadi Yoga: An Open Labelled, Randomized, Controlled, Clinical Trial , Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.
 
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Revision as of 13:35, 6 March 2023

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Understanding congenital disorders in Ayurveda and contemporary research

Congenital disorders are disabilities or malformations present at or before birth. These are identified in prenatal life or at birth, or many years later. As per the World Health Organization, congenital anomalies are a leading cause of neonatal deaths. Every year an estimated 295 000 newborns die within 28 days of birth due to congenital anomalies. These can contribute to long-term disability, with significant impacts on individuals, families, healthcare systems, and societies. [1]
Human genetics studies individual genes, their role and function in disease, and their mode of inheritance. Genomics refers to an organism's entire genetic information, the genome，and the function and interaction of DNA within the genome， as well as with environmental or nongenetic factors such as a person's lifestyle. Characterization of the human genome in genomic studies has supported genetics to elucidate the etiology, pathogenesis of the disease, and improve therapeutic interventions and outcomes. The impressive advances in genetics, genomics， and health care information technology have significantly increased the wealth of knowledge. It is helpful in medical practice and play a prominent role in the diagnosis， prevention, and treatment of disease.[2]
The ancient rishis of Ayurveda had recognized the genetic basis of diseases. They have documented the knowledge in various contexts. The current medical system focuses on the identification of genes responsible for diseases. At the same time, the references found in Ayurveda texts indicate the causes of genetic disorders and their role in health and diseases. A proper study to bridge the gaps and connect these two pools of information can reveal significant insights for a comprehensive understanding of why and what of congenital and genetic disorders. The present article describes congenital disorders in Ayurveda texts and contemporary research.

Contributors
Section/Chapter/topic Sharira / Garbha / Congenital disorders
Authors Anagha S.1, Deole Y.S.1
Reviewers Basisht G.1, Chavan- Gautam P.2
Editor Basisht G.1
Affiliations

1Charak Samhita Research, Training and Development Centre, I.P.G.T.& R.A., Jamnagar,

2 Center for Complementary & Integrative Health, Savitribai Phule Pune University, Maharashtra, India.
Correspondence email carakasamhita@gmail.com
Publisher Charak Samhita Research, Training and Development Centre, I.T.R.A., Jamnagar, India
Date of first publication: July 21, 2021
DOI 10.47468/CSNE.2021.e01.s09.068

Congenital disorders as per Ayurveda

In Ayurveda, the congenital disorders are considered incurable(asadhya) with poor prognosis. Similarly, some hereditary of familial (kulaja) ailments are also explained as incurable.

E.g. Congenital or hereditary obstinate urinary diseases including diabetes (Jataja prameha) [Cha. Sa. Chikitsa Sthana 6/57]

Ayurveda emphasizes on prevention of congenital disorders through proper preconception, ante- natal and intra partum care. The causes for congenital disorders are explained in detail. These are helpful in taking necessary actions to avoid such risk factors and obtaining a healthy progeny.

Causes of Congenital Disorders

Image 1:Causes of Congenital Disorders

The causes of congenital disorders can be analyzed in view of physical, mental and spiritual dimensions.

These causes can be broadly classified based on period:

1) Preconception period

2) Antenatal period

3) Intra-partum period

Factors related to preconception Period

Physical factors

Genetic defects in parents

Abnormalities in gametes (beeja dosha)

The concept of genetics is denoted with the terms ‘beeja’(seed or gametes), ‘beejabhaga’ (chromosomes) and beeja-bhagavayava (nucleic acids and genes). The maternal (matruja) and paternal (pitruja) factors are responsible for the formation of the embryo. When any part of these three genetic materials is abnormal, it leads to deformity or mal-formation of the organ or body part. [Cha. Sa. Sharira Sthana 3/17]

Role of reproductive physiology (shukra dhatu) of parents

The vitiation of reproductive elements shukra dhatu and its channels of transformation and transportation (shukravaha srotasa) results in deformities in progeny. [Cha. Sa. Sutra Sthana 28/28], [Cha. Sa. Chikitsa Sthana 2;8/34] The normal status of shukra dhatu at the time of conception is important for normal embryogenesis.

Disorders of female reproductive system

Optimum health of uterus/female reproductive tract (kshetra) is an essential factor for the normal growth and development of the fetus.

Role of time factor (kala)

Age of the parents at the time of conception is important. In Ayurvedic texts, the minimum age for normal and healthy conception is described as twenty five years for male and sixteen years for female. At this age, the individual attains complete psycho-sexual maturity to become responsible parents. [Su. Sa. Sutra Sthana 35/13] Young girls and old women are not advised for conception. [Cha. Sa. Sharira Sthana 8/6] If the recommended age is not followed for conception, it can lead to intrauterine death of fetus, neonatal death, ill health and deformed body parts of the child.[A. S. Sharira Sthana 1/5]

Pregnancy at a very young age causes premature births. Aneuploidy (abnormal chromosome number) is the principal hereditary abnormality associated with age of either parent. Advanced maternal age is associated with increased risks for miscarriage, chromosomal abnormalities, stillbirth, foetal growth restriction and preterm birth.[3]Recent research shows that younger paternal age(< 20 years) could increase the risks of urogenital abnormalities and chromosome disorders in fetus. Advanced paternal age (≥ 40 years) could increase the risks of cardiovascular abnormalities, facial deformities, urogenital abnormalities, and chromosome disorders in their offspring.[4] Growing evidences also indicate that the offspring of older fathers are prone to reduced fertility and an increased risk of birth defects, some cancers, and schizophrenia.[5]

Psychological and behavioral factors

A pleasant state of mind is the prime requirement for conception. [Cha. Sa. Sutra Sthana 25/40] The mental status of parents during coitus and conception is important. Coitus shall be avoided, when either of the partners is hungry, thirsty, or frightened, averse, sorrow-stricken, angry, distressed with relationship, or not desiring for sex. These states during coitus adversely affect conception and health of progeny. [Cha. Sa. Sharira Sthana 8/17] Studies show that preconception stress alters offspring development in a parental and fetal sex-specific manner. This is reflected in the metabolic and immune-related genes in the placenta as well as brain transcriptome.[6]

Spiritual factors

Sinful acts and atheistic attitude of parents [Su. Sa. Sharira Sthana 2/50-52], deeds of previous life (atma –karma dosha) [Cha. Sa. Sharira Sthana 2/29] and unrighteousness(adharma) [Su. Sa. Sharira Sthana 3/36] can cause congenital disorders. These factors are commonly considered as of ‘unknown origin’ in current medical practices.

Factors related to antenatal period

Improper antenatal care and poor nutrition during pregnancy can lead to deformity in the fetus. [Cha. Sa. Sharira Sthana 4/30] The six factors responsible for embryogenesis play an important role in the causation of congenital disorders. These include maternal (matruja), paternal (pitruja), spiritual (atmaja), psychological (sattvaja), adaptations (satmyaja) and nutritional component (rasaja). Minor defects in these factors can cause congenital abnormalities in the fetus. Major defects cause abortion or intrauterine death of the fetus. [Cha. Sa. Sharira Sthana 4/28-29]

Role of panchamahabhuta

The five fundamental elements (pancha mahabhuta) play basic functions during embryogenesis. Vayu performs function of cell division/multiplication (vibhajana); agni carries function of metabolism(pachana); jala carries function of moisture or fluid (kledana); Prithvi carries function of compactness or formation of mass(samhanana); and akasha carries function of enlargement of size(vivardhana). If these functions are carried out in normal proportion, the body's normal structure (shareera) is formed. The defective proportion or functioning can adversely affect embryogenesis and result in congenital anamolies. [Su.Sa. Sharira Sthana 5/3] More specifically, vayu and akasha cause anatomical deformities in children. [Bhela Sa Sharira Sthana 3/15-16]

Role of dosha

Vitiation of all three dosha during pregnancy can cause congenital disorders. [A. H. Sharira Sthana 1/6] Vata dosha plays key role as controller of all activities and anatomical shapes (akruti) of the embryo (garbha). [Cha. Sa. Sutra Sthana 12/8], [Su. Sa. Sharira Sthana 2/50-52]

Role of dhatu

The structural and functional integrity of maternal reproductive organs especially the uterus is having a great role in the growth and development of the fetus. The quality of rasa dhatu of the mother and its transportation to the fetus plays a vital role.The placenta (apara) and umbilical cord (nabhi nadi) also play crucial role in the nourishment of fetus (garbha poshana). The disorder of these structural entities certainly affects the fetus and leads to some congenital deformities.

Mental status of mother

The mental status of the mother during pregnancy can influence fetal growth and development.The psychological and cognitive development of fetus depends on the psychological status of the mother and the topics listened to by the pregnant woman.[A.S. Sharira Sthana 1/66] And also, the importance of maintaining the positive psychological status of mother while treating the fetal growth related ailments like intra uterine growth restriction is being emphasized.[A.H. sharira Sthana 2/20]

Diet and lifestyle of the mother

The harmful diet and lifestyle factors followed by mothers that can adversely affect progeny (garbhopaghatakara bhavas) are described below. [Cha. Sa. Sharira Sthana 8/21] More research studies are needed to find out exact genetic connections in the causes and their effects on progeny.

Causes of premature birth or atrophy or emaciation of fetus

  • Sitting in awkward positions, on uneven and hard seats
  • Suppressing the urge to pass flatus, urine, and defecation
  • Indulgence in intensive or extreme forms of physical activities
  • Excessive consumption of pungent and hot food items or less quantity of food than needed

Causes of miscarriage

  • Repeated trauma or injuries, looking down from heights (e.g., from mountain-tops or cliffs, deep wells, etc.)
  • Traveling long distances in excessively jerky carriages
  • Prolong exposure to loud and unpleasant noise

Causes of mental retardation and psychiatric disorders in child

  • Excess sleeping in open air or walking at night leads to the birth of a mentally challenged child.
  • Indulgence in too many quarrels and fights can lead to epilepsy in a child.
  • Excess indulgence in coitus (or a nymphomaniac) leads to the birth of a truant with a passion for women.
  • Constant grief in pregnancy would give birth to a timid, or under-developed, or short-lived child.
  • A woman who always thinks ill of others gives birth to a delinquent or an anti-social child.
  • A woman who is a thief will give birth to a lazy child who is wicked and inept.
  • An intolerant woman would give birth to a child who is of fierce, deceitful, and jealous nature.

Lifestyle-related causes

  • A woman who sleeps for long hours would give birth to a dull and unwise child with poor digestive capacity.
  • A woman addicted to wines gives birth to a child who is ever-thirsty and fickle-minded.

Dietary causes

  • A woman who consumes flesh and meat of godha (iguana) would give birth to a child afflicted with stones or shanairmeha (a type of urinary disorder where dribbling is seen)
  • A woman who consumes pork frequently would give birth to a child with red eyes, rough body-hair, and prone to suffering from severe respiratory disorders.
  • A woman who used to consume fish excessively would give birth to a child with lagophthalmos and related eye disorders
  • A woman used to eating many sweets is prone to giving birth to a dumb or excessively obese child or a diabetic child.
  • A woman fond of sour food items is prone to giving birth to an offspring suffering from bleeding disorders or diseases of the skin and eyes.
  • A woman who consumes more salt or salty food articles may give birth to a child with early onset of wrinkles, grey hair, or baldness.
  • A woman used to pungent substances in excess may give birth to a weak child, deficient in semen and impotent.
  • A woman using bitter substances in excess may give birth to a child with emaciated, weak or undeveloped body.
  • A woman habituated to excessive use of astringents may give birth to a child with a blackish complexion, suffering from constipation and udavarta (misperistalsis).

[Cha.Sa. Sharira Sthana 8/21]

The effect of diet taken by the mother vitiating particular dosha is described. [A. S. Sharira Sthana 2/54-56]

A systematic review shows that parental alcohol exposures are significantly associated with the risk of congenital heart diseases in offspring. This highlights the necessity of improving health awareness to prevent alcohol exposure during preconception and conception periods.[7]

Effect of maternal diseases upon the fetus

The affliction of the body part of the pregnant woman, either by vitiation of dosha or trauma, leads to the affliction of the identical part of the fetal body. [ Su. Sa. Sharira Sthana 3/17] Maternal autoantibodies can cross the placenta and cause fetal damage. For example, fetal thyroid goiter can be developed in response to maternal Graves' disease.[8]

Effect of non-fulfillment of longings/desires of the mother during pregnancy (dauhruda vimanana)

The fetus expresses desires through mother. Hence the desires of the pregnant woman (dauhruda) should always be fulfilled. Any negligence or non-fulfillment can cause abnormalities or even death of the fetus. Suppression of desires vitiates vayu, and produces various diseases, abnormalities in the fetus, or even death. [Cha. Sa. Sharira Sthana 4/25] Various studies indicate that mental illness and neurocognitive decline are prevalent co-morbidities in the adolescent and adult population with congenital heart diseases (CHD).[9] [10]

Environmental factors

Environmental conditions can play a role in fetal development. A retrospective cohort study reported a significant positive association between soil cadmium and air pollution evaluated by air quality index (AQI) and level of screening serum TSH in congenital hypothyroidism patients. It is inferred that the interaction of genetic, autoimmune, familial, and environmental factors with each other could have an influence on neonatal thyroid function.[11]

Factors related to intra partum period

Consequences of inappropriate bearing down efforts by the mother: If bearing down efforts are made in the absence of real labour pains, deafness, dumbness, dislocation of mandible, head and neck diseases, cough, dyspnoea, emaciation, and abnormal location of the body parts of the child are likely to occur. [ Su. Sa. Sharira Sthana 10/9]

Classification of congenital disorders

The congenital disorders are classified in two major categories. [ Su. Sa. Sutra Sthana 24/5]

1) Due to genetic defects (aadibalapravrutta):

These include maternal (matruja) or paternal (pitruja) genetic factors. These can be termed as ‘pre-conception causes’.

Examples:

  • Skin lesions (kushtha): Skin lesions resembling the petal of lotus(pundarika), fruit of Abrus pricatorius (kakanaka)[Su. Sa. Nidana Sthana 5/19] and congenital skin patches of different size, shape and colour.[Su. Sa. Nidana Sthana 13/41-44]
  • Hemorrhoids (arsha)[ Su. Sa. Sutra Sthana 24/5]
  • Obstinate urinary disorders (prameha)[ Su. Sa. Sutra Sthana 24/5]
  • Emaciation (karshya/kshaya) [Dalhana, Su. Sa. Sutra Sthana 24/5]
  • Shandi yoni vyapad (female without sexual desire and undeveloped breasts) is caused due to abnormalities in male and female gametes (beeja dosha) and affliction of the uterus by vitiated vata dsoha. [Cha. Sa. Chikitsa Sthana 30/34-35] This condition is similar to the chromosomal disorder known as “Turner’s syndrome”.
  • The defects in the sperm (shukra) cause deformities in factors related to paternal origin. [Cha. Sa. Sharira Sthana 4/30-31]

2) Disorders due to faulty diet and lifestyle habits of mother, especially during the prenatal period (janmabalapravrutta):

These may be either due to nutritional factors (rasakruta) or psychological factors (duahruda apacharakruta). These can be termed as ‘post-conception causes’.

Examples:

  • Limb deformities (pangu)
  • Congenital blindness (jatyandhya)
  • Deafness (badhira)
  • Dumbness (mooka)
  • Nasal voice (minmina)
  • Dwarfism (vaamana)

The following table shows comprehensive information about genetic disorders and their consequences on progeny.

Gender Vitiated factor Outcome Possible modern co-relation
Female Genes in maternal chromosomes(beejabhaga of shonita), responsible for the formation of uterus(garbhashaya) female not capable of reproduction, infertile female(vandhya) Agenesis of uterus/adnexa leading to infertility
Female Some of the DNA bases (beejabhaga avayava) in the genes of maternal chromosomes responsible for the formation of uterus (garbhashaya) can conceive, but deliver only dead fetus (putipraja) Recurrent pregnancy loss due to genetic disorders.
Female Some of the DNA bases(beejabhaga avayva) in the genes of maternal chromosomes responsible for the formation of uterus (garbhashaya) as well as those responsible for developing feminine characters incomplete female/ transgender (varta) Gonadal dysgenesis Eg:-Turner Syndrome,Swyer Syndrome
Male Genes in paternal chromosomes(beejabhaga of shukra), responsible for the formation of sperms(shukra) sterile male (vandhya) Male Infertility due gonadal agenesis
Male Some of the DNA bases(beejabhaga avayva) in the genes of paternal chromosomes responsible for the formation of sperms(shukra) offspring dies after delivery (putipraja) Recurrent pregnancy loss due to genetic disorders
Male Some of the DNA bases (beejabhaga avayava) in the genes of paternal chromosomes responsible for the formation of sperms(shukra) as well as those responsible for developing masculine characters. incomplete male /transgender (trinaputrika) Gonadal dysgenesis

Some genetic conditions are caused by mutations in only a single gene. These conditions are usually inherited in different patterns, depending on the type of gene.

The following table shows some examples.

Pattern of inheritance Description Example
X-linked dominant *By mutations in genes on the X chromosome,
  • In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
  • In males, a mutation in the only copy of the gene in each cell causes the disorder.
  • In most cases, males experience more severe symptoms of the disorder than females.
 fragile X syndrome
X-linked recessive * Caused by mutations in genes on the X chromosome.
  • A mutation would have to occur in both copies of the gene to cause the disorder in females.
  • In males, one altered copy of the gene in each cell is sufficient to cause the condition.
  • Males are affected by X-linked recessive disorders much more frequently than females.
 hemophilia, Fabry disease
Y-linked * Caused by mutations in genes on the Y chromosome.
  • So, the mutation can only be passed from father to son.
 Y chromosome infertility, some cases of Swyer syndrome
Autosomal dominant * One mutated copy of the gene in each cell is sufficient for a person to be affected.
  • An affected person can inherit the condition from an affected parent.
  • the condition may result from a new mutation in the gene (e, without any family history)
 Huntington disease, Marfan syndrome
Autosomal recessive * Both copies of the gene in each cell should have mutations.
  • Typically not seen in every generation of an affected family.
 cystic fibrosis, sickle cell disease
Codominant * Two different versions (alleles) of a gene are expressed.
  • Both alleles influence the genetic trait or determine the characteristics of the genetic condition.
 ABO blood group, alpha-1 antitrypsin deficiency
Mitochondrial * Also known as maternal inheritance
  • Applies to the genes in mitochondrial DNA
  • Only females can pass on mitochondrial mutations to their children as only egg cells contribute mitochondria to the developing embryo.
 Leber hereditary optic neuropathy (LHON)

Many health conditions are caused by the combined effects of multiple genes which are known as polygenic. It may be by the interactions between genes and the environment also. For example, heart disease, type 2 diabetes, schizophrenia, certain types of cancer etc.[12]

Diagnosis of Congenital disorders

History of parents

A careful history of either several spontaneous abortions or offspring with multiple anomalies is an indication for chromosome analyses on both parents. Among known genetic disorders, the severity of X-linked disorders differs in males and females. Genetic mutations originate more frequently among males, and the frequency increases with advancing paternal age. This is seen in Marfan syndrome, achondroplasia, hemophilia A, and the Lesch-Nyhan syndrome.[13] The genetic analyses in such cases can diagnose probable genetic disorders in progeny.

Check up before pregnancy:

The genetic diseases like cystic fibrosis, fragile X syndrome, sickle cell disease, Tay-Sachs disease, Spinal muscular atrophy can be identified in carrier parents before pregnancy. It can also be done in high-risk category parents who are susceptible to disorders due to ethnicity. Common susceptible groups that may be carriers include non-Hispanic whites (cystic fibrosis), people of Eastern European Jewish descent (Tay-Sachs disease, cystic fibrosis, and others), and those of African, Mediterranean, and Southeast Asian backgrounds (sickle cell disease). [14]

During pregnancy:

The risk of Down syndrome, trisomy 18, and spine and brain problems can be diagnosed between 10 and 13 weeks of pregnancy by check up. The cell free fetal DNA testing, AFP (alphafetoprotein) test, Maternal serum quad screen, Amniocentesis and Chorionic Villus Sampling (CVS) are done in susceptible cases.

Antenatal anomaly scan:

An anomaly scan or mid-pregnancy scan is done to detect significant physical abnormalities in the growing baby. It is an ultrasound scan done between the 18th and 21st week of pregnancy. It helps detect congenital disorders like anencephaly, diaphragmatic hernia, gastroschisis, exomphalos, open spina bifida, bilateral renal agenesis, lethal skeletal dysplasia, Edwards’ syndrome or T18, Patau’s syndrome or T13, cleft lip and serious cardiac abnormalities.[15]

Clinical examination

Clinical diagnosis of congenital disorders is based on the three-fold diagnostic tools.

1) Inspection (darshana): A careful neonatal examination after birth can identify visible structural deformities. The examination findings in each part of the neonate body for the signs which indicate life span. [Cha. Sa. Sharira Sthana 8/51]

2) Palpation (sparshana): Any structural deformity or anatomical abnormality can be easily detected by palpation. [Cha. Sa. Sharira Sthana 8/43], [A.Hr. Uttara Sthana 1/1]

3) Interrogation (prashna): The detailed history of both the parents regarding the family history, personal history, medical history should be taken to rule out or to find the cause of a congenital disorder in the child. It can be useful in diagnosis and prevention of hereditary disorders.

Treatment

Most of congenital disorders are incurable. The patients shall be well informed about the prognosis before treating such diseases. The measures to minimize the symptoms of the particular disorder and improve the quality of life should be the goal of treatment.

Surgical procedures:

Some surgical or para surgical measures are advised in case of minor structural deformities like Stricture of uretra (nirudha prakasha)[Su. Sa. Nidana Sthana 13/52-54] and imperforate anus (sannirudha gudam) [Su. Sa. Nidana Sthana 13/55-56]. The description of the surgical procedure is also available for the treatment of these congenital disorders.[Su. Sa. Chikitsa Sthana 20/43-47]

In congenital skin patches that are small,round, painless, slightly raised, light red coloured and smooth (known as jatumani), blackish, minute as in sesame seed size (tilakalaka)etc. cauterization using caustic alkali(kshara karma) or thermal cauterization (agnikarma) is advised.[Su. Sa. Chikitsa Sthana 20/32]

In other skin changes, which are circular in shape, covering a large or small area, bluish black or white in colour (known as nyaccha), bloodletting therapy (sira vyadha) as per convenience is advised. [Su. Sa. Chikitsa Sthana 20/33]

Preventive aspects of congenital disorders

Pre-conception guidelines are recommended for healthy progeny and to prevent congenital disorders. The guidelines include the selection of partners, purification procedures, and prenatal care.

Guidelines for selection of partner

The selection of a partner with desirable qualities is the prime step in the prevention of congenital disorders. The following are the guidelines for the selection of an ideal partner as per Ayurveda text.

  • The partner should belong to a different clan (gotra).[ Cha. Sa. Sharira Sthana 2/3]
  • Consanguinity in sexual relationships should be avoided.
  • Either partner should not have any hereditary disorders or familial traits.
  • Either partner should not be suffering from any contagious or sexually transmitted diseases.
  • Either partner should not be handicapped.
  • Both should possess attractive physical characters.
  • Both partners should be healthy and follow good health habits.
  • Both should follow good morals and conduct. [A. S. Sharira Sthana 1/3]

These guidelines are essential to prevent the transmission of genetic disorders in the family.

Preventive and therapeutic protocol

If either the parents or both of them have any hereditary disorders, the therapies are advised. Panchakarma procedures including therapeutic purgation (virechana) followed by administration of rasayana and vajikarana therapy can help to prevent or minimize genetic disorders in progeny. Suppose the first child is born with any kind of congenital disorder. In that case, the preventive protocol must be followed before planning for the next baby.

Current research

Contemporary approach:

As per modern embryology, susceptibility to teratogenesis depends on the genotype of the conceptus and the manner in which this genetic composition interacts with the environment. The maternal genome is also important with respect to drug metabolism, resistance to infection, and other biochemical and molecular processes that affect the conceptus. Susceptibility to teratogens varies with the developmental stage at the time of exposure.

The most sensitive period for inducing congenital disabilities is the third to eight weeks of gestation, the period of embryogenesis.[16]

There are three phases of intrauterine growth. Zygote, embryo, and fetus.

1. The zygote phase or Period-I (weeks 1 – 2 after fertilization): It consists of cell division and implantation of this cell mass in the uterus. During this phase, teratogen would cause loss of the conceptus.

2. The embryonic phase or Period II (weeks 3 – 8): In this period, most of the organ systems develop. This is the most vulnerable phase for major congenital malformations to occur.

3. The fetal phase / Period III (weeks 9 – 38): In this phase, further growth and elaboration of the organ systems take place. During this phase, various factors can result in minor or not-so-severe defects.

Congenital disabilities occur due to three main reasons i.e.abnormal formation of tissues, abnormal forces on normal tissues, or destruction of normal tissues. Some of these defects may have a cascade effect and result in related anomalies or multiple anomalies (syndromes).[17]

Nowadays, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is emerging as a treatment of choice for various congenital disorders.[18]

Theses works done

1. M.N. Jaiswal (2003): Clinical role of indigenous drugs (Amalaki Rasayana and Gomeda Bhasma) in Kulaja Pandu (Thalassemia)-A scientific study, Dept. of Kaumarabhrutya., Shree Ayurved Mahavidhyalaya, Nagpur.

2. Ruchi Singh (2007): A study of disease Thalassemia (Anukta Vyadhi Ayurveda) and its management with Dhatri Avaleha, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.

3. Jadhav Sahebrao B (2009): A study of disease Thalassemia (Anukta Vyadhi in Ayurveda) and its management with Triphaladi Avaleha as an adjuvant therapy, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.

4. Joban K. Modha (2009): A comparative pharmaco-pharmaceutical clinical study of Gandhakadi Yoga B on Iron overloading condition due to Raktavikruti, Deprtment of RSBK, I.PG.T & R.A, Jamnagar.

5. Pramod R. Yadav (2010): The pharmaceutical standardization of Gandhakadi Yoga and its effect on Thalassemic iron overload w.s.r. to Kadli as pathya, Deprtment of RSBK, I.PG.T & R.A, Jamnagar.

6. Sagar Nalawade (2011): Pharmacological study of Amritasara Lohokta Dosha Nivaraka Dravya on iron overloading with special reference to Thalassemia Major, NIA, Jaipur.

7. Abhishek Y. Patalia (2011): A study of Beejadushtijanya Pandu and its management with Triphaladi Avaleha w.s.r. to Thalassemia, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.

8. Raina Rathod (2013): A further clinical study on Beejadushtijanya Pandu- Thalassemia Major and with Triphaladi Avaleha, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.

9. Shailesh R. Rajgolkar (2014): A clinical study on Beejadushtijanya pandu (Thalassemia major) in children and its management with Musta-Triphaladi Avaleha, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.

10. Anjana A. goswami ( 2015) : A clinical study on Beejadushtijanya pandu (Thalasemia major) and its management with Gandhakadi yoga, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.

11. O.T.M.R. Senani B kalawana (2016 ) : Management of Beejadushtijanya pandu(Thalasemia major) with Musta-triphladi avaleha and gandhkadi yoga, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.

12. Rahul Gameti (2017): Further clinical study on Beejadushtijanya pandu (Thalasemia major)and its management with Gandhakadi yoga, Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.

13. Bhumi Mori(2018) : Management of Beejadushtijanya Pandu (Thalassemia Major) with modified Musta-Triphaladi Avaleha and Gandhakadi Yoga: An Open Labelled, Randomized, Controlled, Clinical Trial , Department of Kaumarabhrutya, I.PG.T & R.A, Jamnagar.

More information

Atulyagotriya Sharira , Khuddika Garbhavakranti Sharira, Mahatigarbhavakranti Sharira, Jatisutriya Sharira , Yonivyapat Chikitsa Adhyaya, Garbha, Prenatal care (garbhini paricharya)

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References

  1. ↑ Available from https://www.who.int/news-room/fact-sheets/detail/congenital-anomalies accessed on 15/06/2021
  2. ↑ J. Larry Ja meson， Peter Kopp. Principles of Human Genetics. In Harrison’s principles of internal medicine. 19th edition. Pg. 425.
  3. ↑ Frick AP. Advanced maternal age and adverse pregnancy outcomes. Best Pract Res Clin Obstet Gynaecol. 2021 Jan;70:92-100. doi: 10.1016/j.bpobgyn.2020.07.005. Epub 2020 Jul 15. PMID: 32741623.
  4. ↑ Fang Y, Wang Y, Peng M, et al. Effect of paternal age on offspring birth defects: a systematic review and meta-analysis. Aging (Albany NY). 2020;12(24):25373-25394. doi:10.18632/aging.104141
  5. ↑ Bray I, Gunnell D, Davey Smith G. Advanced paternal age: how old is too old?. J Epidemiol Community Health. 2006;60(10):851-853. doi:10.1136/jech.2005.045179
  6. ↑ Yasmine M.Cissé et al, Brain and placental transcriptional responses as a readout of maternal and paternal preconception stress are fetal sex specific, Placenta, Volume 100, October 2020, Pages 164-170.
  7. ↑ Zhang S, Wang L, Yang T, Chen L, Zhao L, Wang T, Chen L, Ye Z, Zheng Z, Qin J. Parental alcohol consumption and the risk of congenital heart diseases in offspring: An updated systematic review and meta-analysis. Eur J Prev Cardiol. 2020 Mar;27(4):410-421. doi: 10.1177/2047487319874530. Epub 2019 Oct 2. PMID: 31578093.
  8. ↑ Panaitescu AM, Nicolaides K. Maternal autoimmune disorders and fetal defects. J Matern Fetal Neonatal Med. 2018;31(13):1798‐1806. doi:10.1080/14767058.2017.1326904
  9. ↑ Khanna AD, Duca LM, Kay JD, Shore J, Kelly SL, Crume T. Prevalence of Mental Illness in Adolescents and Adults With Congenital Heart Disease from the Colorado Congenital Heart Defect Surveillance System. Am J Cardiol. 2019;124(4):618‐626. doi:10.1016/j.amjcard.2019.05.023
  10. ↑ Keir M, Ebert P, Kovacs AH, et al. Neurocognition in Adult Congenital Heart Disease: How to Monitor and Prevent Progressive Decline. Can J Cardiol. 2019;35(12):1675‐1685. doi:10.1016/j.cjca.2019.06.020
  11. ↑ Hashemipour, M., Kelishadi, R., Amin, M.M. et al. The association between familial and environmental factors and prevalence of congenital hypothyroidism in center of Iran. Environ Sci Pollut Res (2020). https://doi.org/10.1007/s11356-020-10959-x
  12. ↑ https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
  13. ↑ Congenital deformities and chromosomal disorders: maternal versus paternal age. Fertil Steril. 1977;28(8):888. doi:10.1016/s0015-0282(16)42748-2
  14. ↑ Available from https://www.webmd.com/baby/pregnant-genetic-testing cited on 17/06/2021
  15. ↑ Available from https://www.motherhoodindia.com/specialities-pregnancy-care/pregnancy-scans/anomaly-scan-detail/ cited on 17/06/2021
  16. ↑ Prof.Hari Hirdya Awasthi,Dr.Mohd.Ashraf Khan, Garbha sarira, Chaukhambha Orientalia. Varanasi; 1996. First edition.pg.136
  17. ↑ Dhiman K, Kumar A, Dhiman KS. Shad Garbhakara Bhavas vis-a-vis congenital and genetic disorders. Ayu. 2010;31(2):175‐184. doi:10.4103/0974-8520.72384
  18. ↑ Faraci M, Giardino S, Bagnasco F, et al. Allogeneic hematopoietic stem cell transplantation in congenital disorders: A single-center experience. Pediatr Transplant. 2017;21(6):10.1111/petr.12997. doi:10.1111/petr.12997
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