Congenital disorders

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.

Contributors

Section/Chapter/topic	Sharira /Garbha/ Congenital disorders
Author	Blinded
Reviewed by	Open for review till November 05, 2020
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Correspondence email:	carakasamhita@gmail.com
Date of publication:	October 04, 2020

Causes of congenital disorders

The causative factors for congenital disorders can be analyzed in physical, mental and spiritual dimensions.

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). The six factors are,

1. Maternal (matruja)

2. Paternal (pitruja)

3. Soul (atmaja)

4. Mind (satvaja)

5. Wholesomeness (satmyaja)

6. Nutritional component (rasaja)

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]

These causes can be broadly classified in relation to

1) Preconception period

2) Antenatal period

3) Intra-partum period

During Preconception Period

The selection of a partner with desirable qualities is the prime step in the prevention of congenital disorders.

The following are the guidelines for selection of an ideal partner as per Ayurveda.

• The partner should be belonging to a different clan(gotra).[ Cha. Sa. Sharira Sthana 2/3]

• Consanguinity should be avoided.

• Should not have any hereditary disorders or familial traits.

• Should not be suffering from any contagious diseases.

• Should possess attractive physical characters.

• Should not be handicapped.

• Should be healthy and follow good health habits.

• Should keep morality and good conduct. [A. S. Shrira Sthana 1/3]

Physical Factors

• Abnormalities of sperm and ovum (beeja) [Cha. Sa. Sharira Sthana 2/29]

• Defective reproductive physiology (shukra dhatu)of parents.[Cha. Sa. Sutra Sthana 28/18]

• Defective reproductive anatomy of parents (ashaya dosha)[Cha. Sa. Sharira Sthana 2/29]

• Vitiation of Tridosha[A. H. Sharira Sthana 1/6]

Role of reproductive physiology (shukra dhatu) of parents

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]

Abnormalities in gamates (beeja dosha)

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.

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]

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 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]

	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 (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.
	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:- 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
	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
	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

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.

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.

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. •In females, a mutation would have to occur in both copies of the gene to cause the disorder. •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 •As only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial mutations to their children.	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. Example- heart disease, type 2 diabetes, schizophrenia, certain types of cancer etc.

Defective genital organs and supportive structures in mother

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.

Environmental/ Epigenetic Factors

Role of time factor (kala)

The term time (kala) can be interpreted in many ways.

• 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.

• 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]

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.

• 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]

Menstrual Day	Effect on the child
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

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

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]

• Non observance of regimens during menstruation (Rajaswala Paricharya)

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]

Don’ts during menstruation	Possible defects/abnormalities in future child
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:

• Sinful acts and atheistic attitude of parents [Su. Sa Sharira Sthana 2/50-52]

• Bad deeds of previous life(atma –karma dosha) [Cha. Sa. Sharira Sthana 2/29]

• Unrighteousness(adharma) [Su. Sa. Sharira Sthana 3/36]

During Antenatal Period

Physical Factors

Role of panchamaha bhuta

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]

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].

Role of Dosha

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]

Diet and life style of the mother:

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]

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]

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

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]

Maternal autoantibodies can cross the placenta and cause fetal damage. For example, fetal thyroid goiter can be developed in response to maternal Graves' disease.

Environmental/Epigenetic Factors:

• Time factor(kala dosha) [Cha. Sa. Sharira Sthana 2/29]

• Nutritional and intrauterine environment [Cha. Sa. Sharira Sthana 2/29]

Psychological and behavioral Factors:

• Improper diet and lifestyle of mother(ahara –vihara dosha)[Cha. Sa. Sharira Sthana 2/29]

• Not satisfying the longings of pregnant lady(douhruda)[Su. Sa. Sharira Sthana 2/50-52]

• The psychological and cognitive development of fetus depends on the psychological status of mother and father.[ A. S. Sharira Sthana 1/66]

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

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].

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].

Various studies indicate that mental illness and neurocognitive decline are prevalent co-morbidities in the adolescent and adult population with Congenital Heart Diseases (CHD).

During Intra-partum Period

• 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]

Current researches

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 birth defects is the third to eight weeks of gestation, the period of embryogenesis.

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

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

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.

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.

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). 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

Sa. = Samhita, Cha. = Charak, Su. = Sushruta, Ka. = Kashyapa, A. = Ashtanga, Hr. = Hridaya, S. = Sangraha,

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