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{{#seo:
|title=Congenital Disorders
|titlemode=append
|keywords=Congenital disorders,beejadosha,beejabhaga,beejabhaga avayava, genetics, shad garbhakara bhava, garbha, Ayurveda, Indian system of medicine, charak samhita.
|description=Sharira / garbha / congenital disorders
|image=http://www.carakasamhitaonline.com/mediawiki-1.32.1/resources/assets/ogimgs.jpg
|image_alt=charak samhita
|type=article
}}
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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.
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.
Ayurveda emphasizes the proper preparation of the parents as the essential prerequisite for a healthy progeny and prevention of congenital disorders.
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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{{Infobox
{{Infobox
==Causes of congenital disorders==
==Causes of congenital disorders==
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The causative factors for congenital disorders can be analyzed in physical, mental and spiritual dimensions.
The causative factors for congenital disorders can be analyzed in physical, mental and spiritual dimensions.
3) Intra-partum period
3) Intra-partum period
[[file:Capture_2.PNG|500px|'''Image 2:Causes of congenital disorders'''|thumb]]
[[file:Capture_2.PNG|500px|'''Image 2:Causes of congenital disorders'''|thumb]]
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== During Preconception Period==
== During Preconception Period==
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The selection of a partner with desirable qualities is the prime step in the prevention of congenital disorders.
The selection of a partner with desirable qualities is the prime step in the prevention of congenital disorders.
*Should keep morality and good conduct. [A. S. Shrira Sthana 1/3]
*Should keep morality and good conduct. [A. S. Shrira Sthana 1/3]
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===Physical Factors ===
===Physical Factors ===
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*Abnormalities of sperm and ovum (beeja) [Cha. Sa. [[Sharira Sthana]] 2/29]
*Abnormalities of sperm and ovum (beeja) [Cha. Sa. [[Sharira Sthana]] 2/29]
| || 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
| || 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
|}
|}
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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>
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>
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.
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>
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==Defective genital organs and supportive structures in mother ==
==Defective genital organs and supportive structures in mother ==
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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.
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.
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===Environmental/ Epigenetic Factors===
===Environmental/ Epigenetic Factors===
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'''Role of time factor (kala)'''
'''Role of time factor (kala)'''
|Third ||Deficient or defective body parts and short lived.
|Third ||Deficient or defective body parts and short lived.
|}
|}
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===Psychological and behavioral factors===
===Psychological and behavioral factors===
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It is mentioned that pleasant state of mind is the prime requirement for conception. [Cha. Sa. [[Sutra Sthana]] 25/40]
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'''
*'''Contra indications for sexual intercourse'''
|Excessive Exposure to draughts and exertion || Insanity
|Excessive Exposure to draughts and exertion || Insanity
|}
|}
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===Spiritual factors: ===
===Spiritual factors: ===
*Sinful acts and atheistic attitude of parents [Su. Sa Sharira Sthana 2/50-52]
*Sinful acts and atheistic attitude of parents [Su. Sa Sharira Sthana 2/50-52]
==During Antenatal Period==
==During Antenatal Period==
===Physical Factors===
===Physical Factors===
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'''Role of [[panchamaha bhuta]]'''
'''Role of [[panchamaha bhuta]]'''
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>
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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==During Intra-partum Period==
==During Intra-partum Period==
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*'''Consequences of inappropriate bearing down efforts by the mother:'''
*'''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]
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]
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==Current researches ==
==Current researches ==
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'''Contemporary approach:'''
'''Contemporary approach:'''
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). <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>
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). <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>
Now a day, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the emerging as a treatment of choice for a variety of 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>
Now a day, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the emerging as a treatment of choice for a variety of 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>
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===Abbreviations ===
===Abbreviations ===
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