Birth defects, developmental aberration, can arise from various causes. Among them, genetics play a significant role, accounting for a substantial portion of these anomalies.
According to Dr. Ratna Dua Puri, Chairperson of Genetics & Genomics, Sir Ganga Ram Hospital, “Birth defects are an abnormality of structure as well as abnormality of function. There are many causes of birth defects, some we understand and the others we are still trying to. These can be environmental causes, infections. They also can be teratogenic like taking drugs that are not good for the baby during pregnancy, smoking, alcohol, uncontrolled diabetes. These can also cause birth defects”.
However, genetics also play a crucial part. Dr. Puri notes, “Another large group of the cause of birth defects are genetic disorders. These can be abnormalities of chromosomes or abnormalities of genes. So about 20 to 30 percent are because of abnormality of genes and another 10 -20 percent could be because of abnormality of chromosomes.”
The good news is that not all birth defects are untreatable. Dr. Puri elaborates, “There are some birth defects which are isolated.” For instance, conditions like cleft lip- palate, club foot, omphalocele can often be corrected through surgery.
“Sometimes you can have an extra finger or fused fingers. So these are the easy things that can be operated. The commonest other birth defects that we see is congenital heart defects. So if you can have a ventricular septal defect or you have things like that, they are also operable,” says Dr. Puri, emphasizing that many structural abnormalities are surgically treatable. Even congenital heart defects, among the most common birth anomalies, can often be addressed through surgical intervention.
However, the situation becomes more complex when genetic abnormalities impact functional development. Dr. Puri explains, “If there is a functional abnormality, then that you cannot operate.” In such cases, supportive therapies like occupational therapy become essential for managing the condition to enable the child to develop to his/her optimum.
Prevention, though, remains a powerful tool. She highlights the role of proactive measures, stating, “You can prevent a lot of birth defects.” For example, taking folic acid before conception can significantly reduce the risk of neural tube defects. Similarly, controlling diabetes before pregnancy can mitigate associated birth defects.
In conclusion, while genetics contribute significantly to birth defects, understanding, prevention, and timely intervention can greatly improve outcomes for affected individuals and families.
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