Kerala - Thiruvananthapuram

State told to boost pre-natal screening

Thiruvananthapuram: Genetic counselling and pre-natal screening services should be offered routinely as part of public health care services rather than focus only on families with an increased risk for recurrence of genetic disorders or congenital anomalies, genetics experts say.

A State such as Kerala, with a high degree of consanguineous marriages, should strengthen its genetic services so that the infant mortality rate can be reduced further.

Some 300 delegates and experts from within the State and outside took part in the conference on “Genetics in paediatric clinical practice,” organised by the Department of Paediatrics, Sree Avittom Tirunal Hospital, here on Sunday.

Delivering the theme oration on “Genetics in clinical practice,” Shubha R. Phadke, Professor of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, said that it was important to collect detailed family history in all ante-natal cases and that clinicians should be able to give the right information and counselling at the appropriate time for all cases.

In cases where genetic disorders were suspected, she said, clinicians should be able to give appropriate counselling and advise parents that recurrence can be prevented through pre-natal genetic testing, which can be checking for biochemical markers followed by invasive testing.

Mamta Muranjan, Associate Professor of Paediatrics, KEM Hospital, Mumbai, who spoke on Downs Syndrome, said that there were gaps in the knowledge of parents about the disease.

Irrespective of age, she said, the risk of occurrence of the syndrome in the general population is 1 in 700. Though pre-genetic counselling is offered only to women above 35 years of age, it has been found that 70 per cent of babies with the disorder are born to women in the younger age group. Hence, screening by maternal age alone will lead to a lot of cases being missed, Dr. Muranjan said.

She pointed out that one of the recommendations of the American College of Gynaecology and Obstetrics in 2007 was that Downs Syndrome screening should be offered universally to all pregnant women and not just the high-risk group.

Several advancements in medical genetics, including enzyme replacement therapy, were discussed at the conference.

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