Test can help detect 55 inborn metabolic disorders

For months, Naresh and Natasha Pandit (name changed) couldn’t get over the sudden loss of their first child. The baby had suddenly passed away in the middle of the night without even as much as a whimper.

So when the couple had a second baby, neonatologist Dr Tushar Parikh’s first advice was to screen the baby for inborn errors of metabolism (IEM) or in simple words metabolic disorders that are not obvious at birth.

Thanks to the doctor’s presence of mind, the couple learnt that their baby was born with a rare metabolic disorder known as fatty acid oxidation disorder where the body can’t convert fat into glucose for energy. Even a small period of fasting can be fatal and timely intervention can save the baby’s life.

Even though the Pandit’s was a high–risk case, doctors say that urban couples are increasingly opting for screening tests in which a single drop of blood drawn from heel of child can help detect up to 55 inborn metabolic disorders.

"Many couples are showing interest towards these tests. I have two cases where parents were able to detect rare disorders in children even before they became serious. However, if one considers the ‘heel’ tests, then they are very expensive. Cost continues to hinder most parents from taking it up," said Parikh.

Pediatrician Dr Amita Phadnis said that the trend is not just becoming increasingly popular but extremely useful in picking up early disorders.

Gynecologist Dr Sanjay Gupte said that nearly one in four parents demand the test for their newborns.

He said, "Since it is so expensive, we insist only high–risk babies such as those whose siblings had untimely death or have problems in neonatal stage to undergo all the tests. However, these days, many parents read about it and come to us demanding it be done," he said.

One of the several companies offering the tests is stem cell bank BabyCell that offers the tests at nearly Rs5,000. Chief scientific Officer Satyen Sanghavi said, "We introduced the newborn screen testing in Pune less than a year ago and 330 babies have undergone the test. We are trying to promote awareness through hospitals, camps, mother care forums, etc."

Pediatrician Dr Saumya Adhicary pointed out that in most of the developed countries, newborn screening was mandatory. "The concept is gaining momentum but slowly and only in paying class. But this should be done universally and be part of health budget. Just like the Goa government’s ‘Heel to Heal’ programme where all babies born in government hospitals are screened for such metabolic disorders. Such a programme is needed to give babies the best chance they have," she said.

Neonatologist Dr Umesh Vaidya said that even if parents are unable to afford all the tests, a few of them are most important such as thyroid screening. "At KEM hospital, we ensure that children undergo five basic tests when they come under our care. As far as heel prick test goes, not all parents can afford it though the numbers are picking up these days," he said.