The Hindu : Karnataka / Bangalore News : Neonatal screening for early treatment

Online edition of India's National Newspaper
Wednesday, Sep 14, 2005

Karnataka

Karnataka - Bangalore

Neonatal screening for early treatment

Divya Ramamurthi

BANGALORE: In December, Smitha and Prasad Shetty are expecting their first baby.

She has had several anxious moments during her pregnancy as her family has a history of phenylketoneuria, a rare genetic disease.

If the genetic disease, which prevents the body from using amino acids efficiently, is not treated early, it could lead to the child suffering severe seizures and mental retardation.

"The chance that my child could get phenylketoneuria is a big worry. Instead of enjoying the pregnancy, I am always worried," Ms. Smitha says.

The Shettys have decided that soon after their child is born, he/she will be screened for inborn errors of metabolism.

"If there is a chance that my child has inherited the disorder, I want to know it as soon as possible.

There is no point trying to hide from the truth," she says.

The process for the neonatal screening is simple.

All that it requires is a small blood sample of the newborn. The screening tests indicate the possibility that an infant may be at risk of having a disorder.

Additional diagnostic tests are necessary to determine if the infant with an abnormal test actually has a disorder, P.K. Menon, vice-president of Manipal Acunova's Clinical Reference Laboratory, says.

Dr. Menon adds that the hospital will be the first to introduce the screening test in the city.

The fee for the test at Manipal Acunova will be about Rs. 3,000.

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