Newborn Screening Test

chillibreeze writer — KC Komal

Both my children were born in California. Although my pediatrician tried to tell me the various tests and screenings that were done routinely for newborns, it mostly went over my head. All I knew was that they drew some blood at birth, and some more a day later from the heel, and if we didn’t hear back it was good news. Recently, however, while talking with a few of my friends here in India, I realized that there was a lot we took for granted in the US. Maybe because both my pregnancies were high risk my kids went through more than the basic testing, but it seemed odd to me that what seemed like simple, non-invasive testing was only done here after a problem manifested itself.

It sort of helped to know that newborn screening is a very young science. Although state of the art medical facilities are available in India, and most urban doctors well informed about the latest medical trends and practices, I noticed that in India there is a view that screening tests are just looking for trouble. As one doctor told me, if you test for a 100 illnesses it is inevitable that you will test positive for a few, and yet they may never affect your life. It reminded me of the time my mother in law was tested for allergies and was told that fox fur was a significant allergen for her. Since the chances of my urban, non-hiking mother in law running into a fox are next to nothing, she scoffed at the doctor. So if newborn screening was only started by Robert Guthrie in 1960, perhaps it would take a while before Indian doctors started recommending it. In the US and many south East Asian countries, mass screening along the lines of PKU testing is mandatory.

In California at least, the state has realized the cost of identifying preventable disorders is much lower than the cost of treatment. Studies have shown that a third of pediatric mental retardation cases are a result of the lack of identification of metabolic disorders. Apparently inborn errors of metabolism are individually rare, but together the entire spectrum of metabolic disorders sends a significant number of children to genetic and neurological doctors. Nothing can be as heart breaking as knowing at the doctor’s office that your child’s mental retardation could have been prevented with a simple heel prick. It is not just mental retardation that is at stake here. SIDS, the dreaded sudden infant death syndrome has been linked with these metabolic disorders. Rare and sometimes fatal allergies, un-diagnosable and mysterious ailments like uncontrolled diarrhea, how wonderful to be able to prevent these with a simple blood test!

So what are the options a pregnant mom in Bangalore has? I spoke with Thomas Mooken at Neogen Labs who realized the power of newborn screening in a very personal way. When his son Ayden was born in 2005, they were fortunate to be at a hospital with a newborn screening program. Thanks to that early screening, they found that Ayden had G6PD a metabolic disorder that is potentially fatal, but easily prevented by keeping Ayden away from certain chemicals, some even found in antibiotics. Thomas was quick to realize the impact of this in a country like India. He decided to move to India with his family and asked Dr. Rohit Cariappa to join him in his efforts to promote NBS and its benefits. They formed NeoGen Labs in June 2006 to offer the First Step Newborn Screening Test to screen babies for IEMs in India, on par with what is currently offered in the West.

I asked him how the process worked. What should an expecting parent do sign up for IEM testing. Well, he said, his company sends out what looks a little like those old fashioned do it yourself blood sugar tests. A nifty space age looking metallic envelope is enclosed with a sheet of paper on which a drop of the baby’s blood is smeared. Within a couple of days, before the IEMs have started to irrevocably affect the baby, the results are back with the pediatrician. The only problem I could see with this is the need to be informed and sign up ahead of time. Wouldn’t it be great if your ob-gy told you this option was available? Cradle, the birthing center in Bangalore does routine NBS for all newborns as well, but since they work with a lab in Australia their turnaround time is longer. Wockhardt also does the same and they work with Cradle. With Wockhardt the results go directly to the parents, and the hospital does not track them. At NeoGen, Mooken told me, the lab works with the pediatricians as well as parents to help facilitate treatment. A few pediatricians in the city are starting to recommend that the newborns they attend to opt for this screening.

So what does this cost a parent? Less than a hundred dollars, about 4 thousand rupees for a panel that covers about 55 IEMs. Seems like a no-brainer to opt for, and the peace of mind is well worth the price of testing.

Nuts and Bolts:
Neogen: www.neogenlabs.com or (080)2580 5600
Cradle: www.thecradlebangalore.com or (080) 4020 2222
Wockhardt Hospitals: www.wockhardthospitals.net

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—About our writer:

"KC refuses to limit herself to one label. Among the many hats she wears are: Full time mom, part time writer, teacher, chef, art collector, gardener, quilter and extremely good vacationer. She has lived in Northern California for close to 20 years and has spent most of those years stopping frequently to smell the roses and plant some lavender. After two decades in Silicon Valley her husband will be working from Bangalore. KC has two children, a 12 year old daughter and an 8 year old son.

Newborn Screening Test

chillibreeze writer — KC Komal

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