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Lok Nayak Hospital to test for haemophilia in the womb

Lok Nayak (LN) Hospital,in association with Maulana Azad Medical College (MAMC),will start prenatal tests of foetuses for haemophilia — a first in any Delhi government hospital.

Written by Pritha Chatterjee | New Delhi |
August 30, 2012 2:07:04 am

Lok Nayak (LN) Hospital,in association with Maulana Azad Medical College (MAMC),will start prenatal tests of foetuses for haemophilia — a first in any Delhi government hospital.

Pregnant women will be first put through a genetic screening to check if they are carriers of haemophilia. After that,foetuses of those who test positive will be put through a DNA test to check for the disease that has no permanent cure.

Haemophilia is a largely hereditary disorder,more likely to affect men. It is a condition in which blood clotting is severely compromised because of the absence of a chemical. Patients can profusely bleed even from a minor cut or bruise. The most dangerous is internal bleeding.

Currently,for women with a family history of haemophilia,tests are done soon after the baby is born. The prenatal test of expecting women will help doctors detect the disease before the baby is born and enable them to take necessary family planning decisions after genetic counselling.

Dr Naresh Gupta,in charge of the haemophilia day care centre at LN Hospital,said: “We have already started screening pregnant women for haemophilia carrier genes. Soon,those who test positive will be put through additional tests to detect the disorder in the foetus.”

The crucial clotting factor gene is present in the X chromosome. While women have two X chromosomes,men only have one.

Women,who have the clotting factor gene missing on one X chromosome and present on the second,can be carriers of the disease,though they themselves may not be afflicted by it. But women with the gene missing in both X chromosomes will suffer from haemophilia and are likely to pass it on to their offspring.

“Prenatal test is a costly process,so it does not make sense to put every pregnant woman through it. We are first screening all pregnant women to ascertain the presence of the clotting factors in their X chromosomes,” a paediatrics faculty member at the hospital said.

For carriers,an ultrasound would be performed at 14-16 weeks of gestation to detect the sex of the child,the doctors said. If she is carrying a boy,he is more likely to get haemophilia from his mother even before he is born because of the single X chromosome in him.

“For women,who are carrying a male child,we will take a DNA sample from the membrane around the foetus,medically called chorionic villous DNA,to check for haemophilia,” a doctor said.

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