Birth Defects

Every mother wishes to deliver a healthy child. But some children are born with birth defects. Birth defects are critical conditions that occur when a baby is developing in the womb. Let us see the types of birth defects and how it can be prevented and treated.

Last Updated: 23 October 2020

Birth Defects
Birth Defects
What are birth defects?

Birth defects are also called congenital disorders which happen when a baby is developing in the mother’s womb. Most of the defects occur during the first three months of pregnancy. Defects can be in any part or parts of the body like heart, brain and foot. They cause certain structural, functional and metabolic changes in baby’s development.

Birth defects affect 1 in every 33 babies born in the United States each year which means nearly 120,000 babies are affected by birth defects each year. In India the prevalence of birth defects varies from 61 to 69.9/1000 live births.

Types of birth defects

Birth defects are classified into

1. Structural defects: These defects are those when a specific body part is missing or malformed. The common structural defects include congenital heart defects, spina bifida, cleft lip palate, club foot and congenital dislocated hip.

2. Functional or developmental birth defects: These defects affect the functioning of the body and can cause developmental delays. Defects can be seen in the sensory and nervous system. The common functional defects include Down syndrome, cystic fibrosis and sickle cell disease.

3. Metabolic defects: These defects affect the baby’ metabolism (the conversion of a specific substance will be blocked). The common metabolic defects include Tay Sachs disease and phenylketonuria.

Symptoms of birth defects

Some birth defects are very much visible (example: Spina bifida) when a baby is born whereas some defects like hemophilia are diagnosed during later stages of life.

Causes of birth defects

The exact causes of birth defects are unknown. Defects could be due to an admixture of genetics and environment.

Genetic factors: Some Birth defects could be due to single gene defects and chromosomal abnormalities (Example: Down syndrome and Cystic fibrosis).

Consanguineous marriage (when parents are related by blood) increases the prevalence of certain genetic abnormalities. It nearly doubles the risk for anomalies in first-cousin unions.

Infections during pregnancy increase the risk of birth defects in children. Some of the common infections include Rubella, Toxoplasmosis and Zika virus

Increased maternal age: Increased maternal age (>35) could be a risk factor for certain birth defects.

Poor maternal nutrition: Lack of consumption of folic acid and iodine and excessive vitamin A intake increase the risk of birth defects. Folic acid insufficiency results in neural tube defects.

Environmental factors:  Smoking, drinking alcohol, consumption of drugs (teratogens) during pregnancy increases the risk of birth defects. Alcohol misuse can cause fetal alcohol spectrum disorders. Also maternal exposure to tobacco, radiation and pesticides could be harmful to the developing fetus.

Diagnosis of birth defects

Birth defects can be identified through ultrasound and blood test. During pregnancy, routine blood and ultrasound investigations will be done in the first and second trimester to identify mothers who are at risk of having a baby with birth defects. Common tests include nuchal translucency, cell free DNA test, amniocentesis and chorionic villus sampling.

Treatment of birth defects

Children with birth defects require adequate care and treatment. Structural birth defects (about 50%) like congenital heart defects and cleft lip palate could be corrected through pediatric surgeries in early life.  

Effective life-saving medical treatment is available for functional disorders like thalassaemia, sickle cell disorders and congenital hypothyroidism.

Children with developmental delays require assisted devices, physical and speech therapies.

Prevention of birth defects

Not all birth defects can be prevented. Some of the defects could be avoided.

·         Pregnant women must consume folic acid and prenatal vitamins throughout pregnancy

·         Unplanned pregnancies should be avoided.

·         Maintaining a healthy lifestyle

·         Avoiding environmental exposure to hazardous substances

·         Avoid harmful drugs and radiation

·         Prevention of infections during pregnancy

·         Consulting a genetic counsellor if any of the family member has a genetic disorder

 Children born with birth defects require huge care and support from the society.






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