Genes that Fit

What is the relevance of this discipline?
The reason is simple. With infections and communicable diseases largely under control in urban India, it is congenital malformation and genetic diseases that are emerging as the major killers of newborns and children. ‘‘The common dream of every parent turns into a nightmare when a baby is born with a handicap,’’ says Dr Madhulika Kabra, additional professor, genetics unit of the department of paediatrics at AIIMS.

Besides, worldwide surveys indicate two to three per cent of newborns have at least one major abnormality at birth. Studies show that 25 to 30 per cent of newborn deaths occur as a result of serious structural abnormality, while congenital malformations and genetic disorders account for 30 per cent of all childhood hospital admissions and 40 per cent of all childhood deaths.

What’s the magnitude of the problem in India?
The prevalence of birth defects is around two per cent in India. That’s about five lakh babies.

The most common major malformation is the neural tube defect: about three to four babies per thousand are born with this defect. Genetic disorders account for defects in about six per thousand babies and can manifest themselves as Down’s syndrome (the commonest cause of mental retardation in India), thalassaemia (the most common serious gene disorder in the country; there are about 10,000 to 12,000 thalassaemic babies born every year), haemophilia and muscular dystrophy.

What are the long-term repercussions?
Most genetic disorders come with the baggage of progressive disability or chronic ill-health for most of which there is, till now, no effective treatment. Supportive care and recurrent hospitalisation have major financial implications, besides translating into tremendous stress for parents. ‘‘Most parents feel responsible and suffer from strong guilt complexes because of their child’s disorder,’’ says Kabra.

What’s the solution?
Obviously, prevention. About three months before a woman plans to become pregnant, she must:
• Stop taking the pill and use another method of contraception.• Find out if she’s had rubella. If not, get vaccinated.• If on medication for chronic diseases such as diabetes, epilepsy or heart disease, consult a doctor.• Stop smoking, drinking and using unprescribed drugs.

What should be done when conception occurs?
Monthly visits to an obstetrician or antenatal clinic are mandatory. The doctor has to be informed about any mental defects or birth problems that have occurred in either parent’s family. Ensure the woman gets sufficient rest, light exercise and a balanced, vitamin-rich diet, along with doses of folic acid.

Can things still go wrong?
Unfortunately, yes. Contact the doctor in case of blood or a strong rush of water from the vagina, severe or persistent nausea and vomiting, persistent headaches, swelling of the feet or legs, abdominal pain or marked decrease in urine. Genetic tests for prenatal diagnosis can be done at nine to 11 weeks and 14 to 17 weeks.

And if something is wrong?
A medical termination of the pregnancy is the only way out.