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Having a baby? Best to run a gene screening test

Rare genetic disorders were reported in hospitals; doctors say parents come in very late.

Hyderabad: Of the 2.6 crore live births every year in India, 17 lakh babies are born with various defects. Cities have seen a rise in the number of congenital malformations and genetic disorders leading to morbidity and mortality.

Rare disorders like Scott’s Syndrome (rare congenital bleeding disorder), Hunter’s Syndrome (coarseness in facial features, prominent forehead, flattened nose and enlarged tongue) and Fanconi Bickel Syndrome (glycogen storage deficiency) were reported in the two major government hospitals here and referred to the Institute of Genetic Medicines. Diagnosis and treatment are very difficult and expensive.

Dr B. Srinadh, senior doctor at the Institute of Genetic Medicines, said, “Eleven per cent of pregnancies are high-risk. In these cases, the growth of the foetus is affected and there is damage to the baby during childbirth. If the women approach the centres on time, these risks can be minimised to a certain extent.”

In some cases, the defects are not visible at birth and develop once the child grows up. Like in the case of Baby Rehana Shameem in Secunderabad, there were no signs of any defects. But when she was five months, she started bleeding from her nose, eyes and vagina. There was a platelet function disorder and it was found that a gene mutation AN06 was causing this disorder.

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Dr Annie Hasan, senior consultant, genetics and molecular medicine, said, “Diagnosing and treating these disorders on time is important. We found that a lot of time was wasted going from one hospital to another.”

Most of the genetic testing labs are located in Bengaluru, Kochi, Mumbai and Gurgaon, making the logistics difficult for city patients. Dr Mahesh Rao, genetic counsellor, said, “The tests are important so that the parents can be counselled for the second child. In India, with the first child born with defects there is pressure for a second child. It is important for such couples to opt for genetic screening.”

( Source : Deccan Chronicle. )
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