Birth defects are those which present as soon as the child is born and such defects are also called congenital anomalies where these defects may range from obviously visible conditions like Cleft Lip and Palate or defects affecting the limbs or spine or they may not be visible, affecting structures like the heart etc. Today, most, if not all birth defects can be identified by high end imaging called anomaly scan but the revelation of birth defects during the anomaly scan or at delivery is an extremely traumatic experience for any couple and their doctor.
In an interview with HT Lifestyle, Dr Krishna Shama Rao, HOD and Senior Consultant, Craniofacial and Aesthetic Surgeon at BGS Gleneagles Global Hospital in Bengaluru, shared, “The cause of birth defects is several, some of which are inherited, or due to genetic mutation, and others, for which the cause is unknown, also called idiopathic. There are several known contributors which increase the risk of birth anomaly, such as, mal- nutrition, specific deficiencies of essential elements like folic acid, consanguineous marriages, late or very early motherhood, or drug induced (both medicinal or recreational).”
With current knowledge and techniques, we know that some birth defects are very easy to correct example, Cleft Lip and Palate, Club Foot, while others are difficult to manage and often lead to reduced life expectancy of the baby. Dr Krishna Shama Rao explained, “In this context, it is obviously better to try to prevent a birth defect, wherever possible. Building public awareness and Government or NGO targeted programs, which tackle nutrition and vitamin supplements, targeting women who have attained sexual maturity is important. It must be noted that most birth defects occur within 7- 8 weeks after conception, and treating the mother, once the deformity has already occurred, is futile. Hence encouraging all women who have attained sexual maturity, to actively take supplements, like multi vitamins and minerals, and a balanced protein rich diet, would go a long way in reducing the chances of a birth defect, whenever pregnancy occurs.”
He elaborated, “Currently scientists are working on technologies, where in a parent with a known disorder could be treated by eliminating the mutations, are being pursued the laboratory scenario. Such genetic interventions could possibly become mainstream techniques in the coming decade or two. For eg, the commonest birth defect affecting the face is Cleft Lip and Palate, which occurs in 1:700 children born in India, but currently, there is no targeted prevention programme. Acute illness or drug abuse (alcohol) can lead to fetal anomalies. These are certainly preventable. Sometimes, several anomalies occur simultaneously, and such a situation is called a syndrome and usually more difficult to treat. They usually have a strong genetic basis for their occurrence. Looking into the future, gene manipulation techniques, which can isolate and eliminate mutant genes are the future way forward. Until then, identifying the anomaly, counseling the parents, and providing the best treatment available is the gold standard. This is particularly true in Cleft and Craniofacial deformities affecting the skull and the face. Several congenital heart diseases like ASD, PFO, are usually self-resolving and need no active intervention.”
Highlighting that though not all birth defects are preventable, Dr Teena Anne Joy, Consultant Gynaecologist at Aster Medcity in Kochi, revealed that the following can make a big difference in its prevention:
- Planning a pregnancy and optimizing health and weight before pregnancy goes a long way to prevent birth defects.
- Intake of Folic acid tablets in the 3months prior to pregnancy and first 3months of pregnancy is proven to prevent fetal brain and spine defects.
- Attaining good control of blood sugars in diabetic women in the pre-pregnancy period and maintaining consistent glycemic control prevents miscarriages, fetal heart defects, brain and spine defects.
- Optimisation of medication to safer drugs in women with epilepsy, hypertension, chronic conditions like inflammatory bowel disease, heart disease, etc by the respective Specialist treating the condition.
- Having a balanced meal with green leafy vegetables, hand hygiene, healthy lifestyle and maintaining weight (BMI between 18 to 25) is vital.
- Avoid alcohol, smoking and drugs like Marijuana.
- Maternal alcohol intake can cause fetal alcohol syndrome, fetal growth restriction, learning and behavioral disorders in the child.
- Avoiding contracting infections like Cytomegalovirus, Zika virus, Rubella in the pre-pregnancy period and early pregnancy period is crucial.
- Those planning pregnancy are to stay away from wild or pet rodents and their droppings, not to directly touch cat litter (to prevent toxoplasmosis infection).
- Avoid Retinoic acid skin creams and antibiotics of the Tetracycline and Aminoglycoside group.
- Drugs like Mycophenolate mofetil, Warfarin, Sodium Valproate, ACE inhibitor drugs should be changed to safer drugs by the concerned Specialist pre-pregnancy.
- Investigating the cause of birth defects if previous baby had defects by meeting an Obstetrician and the allied team (Fetal Medicine Specialist, Geneticist and the Specialist specific to the condition) is of utmost importance.
