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Congenital disorders (view source)

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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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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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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>

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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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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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.

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== Factors related to preconception Period==

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===Physical factors ===

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==== Genetic defects in parents====

'''Abnormalities in gametes (beeja dosha)'''

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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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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====

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 ====

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) ====

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.<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===

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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==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 ([[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]

===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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===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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===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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* 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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===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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* Prolong exposure to loud and unpleasant noise

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===Causes of mental retardation and psychiatric disorders in child:===

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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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* 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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* 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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===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.

* A woman addicted to wines gives birth to a child who is ever-thirsty and fickle-minded.

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===Dietary causes: ===

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===Dietary causes ===

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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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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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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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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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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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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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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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==Factors related to intra partum period==

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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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==Classification of congenital disorders: ==

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==Classification of congenital disorders ==

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

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

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{| class="wikitable"

|-

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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.

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The following table shows some examples.

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{| class="wikitable"

|-

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==Diagnosis of Congenital disorders==

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===History of parents:===

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===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.<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>

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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>

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===Clinical examination:===

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===Clinical examination===

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

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'''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.

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==Treatment ==

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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]

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==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.

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===Guidelines for selection of partner:===

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===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.

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===Preventive and therapeutic protocol===

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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.

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==More information ==

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~~[[ Atulyagotriya Sharira]]~~

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~~[[Khuddika Garbhavakranti Sharira]]~~

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~~[[Mahatigarbhavakranti Sharira]]~~

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[[ Jatisutriya Sharira ]]

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

==References==

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Congenital disorders (view source)

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