Rare birth defect poses a challenge to doctors

Medical termination of pregnancy only alternative in Anencephaly cases

October 07, 2012 09:44 am | Updated October 18, 2016 02:55 pm IST - HYDERABAD

Foetal medicine specialists in the State capital are somewhat puzzled over the repeated incidence of a rare birth defect -- Anencephaly, a condition in which the outer shell of the skull is not fully formed in a foetus.

Specialists have recorded a dozen such cases in the last three-and-a-half years while examining 7,900 pregnant women at Fernandez Hospital. Experts say the probability of such a condition being reported is one in 2,500 pregnancies. There is no treatment for this rare condition. Mostly, if such a condition is noticed in advance, doctors would advise medical termination of pregnancy. Even if the condition is noticed at a later stage when MTP is not possible, the baby does not survive after birth, doctors say. Scientific community has not yet found the cause of such a condition.

“Such cases can be detected in 11 or 12 weeks of pregnancy by conducting an ultrasound scan. We have come across situations where pregnant women approached us very late. By the time we detected the abnormality, the women had reached an advanced stage of pregnancy. Such situations carry a lot of emotional risk for mothers because they have to live with the fact that foetus is not going to survive,” says Dr. Suseela Vavilala, Head, Foetal Medicine Unit of Fernandez Hospital.

Birth defects like anencephaly fall under the category of Neural Tube Defects (NTDs), which are defects in brain and spinal chord. “The reasons could be genetic or environmental. Nobody knows why such defects occur,” she says.

Doctors say that there is ample evidence that taking folic acid tablets reduce chances of several birth defects including Anencephaly. “It is important for women to start taking folic acid tablets two to three months before conception and continue the medication under doctor’s advice,” Dr. Suseela says. Generally, a simple ultrasound scan can detect such defects.

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