Newborn Screening

Sometimes it seems like we’re awfully mean to our babies. They are warm, cozy, drifting lazily in a world where they are fed and held 24 hours a day – and even hugged on a regular basis (that’s what those Braxton-Hicks feel like to them!). Suddenly they’re in a big, dry, cold world – thank heavens we can hold them as much as we want, although they’d like us to continue with the twenty four hour regimen!
It can be a big bad world we live in, though. Mother Nature is not always kind. So I’m glad that there are a few things that are mean in the moment, that make a big difference in the health of our babies.

September is Newborn Screening Awareness month. If you didn’t have a chance to read the information you got in the hospital – or you’re wondering what that heel stick test is all about – here’s the story.

The History of Newborn Screening

The first newborn screens were done for a disorder that’s usually called PKU (that’s because the full name of it is phenylketonuria). It was discovered by a doctor in Norway, Ivar Asbjorn Folling, who tested the urine of two brothers in his practice. When he found high levels of phenylpyruvic acid there, he asked other physicians in Oslo to check with their patients who seemed to suffer from the same maladies. (Babies and chilodren with PKU, when it isn’t caught in the newborn period and treated with diet, don’t hit their developmental milestones on time, suffer from mental and motor retardation, albinism, microcephaly (small heads), and seizures. They also often smell musty – both their urine and their bodies.)

That was 1934. Here in the United States, Dr. Robert Gurthrie developed a screening test for PKU in the 1960’s. The first screening tool was a blood test – which within the decade morphed into the heelstick-bleed-onto-filter-paper regimen that we use today.

Newborn Screening Today

These days we get a lot of information out of those little circles of blood. Here in Vermont our babies are routinely screened for 29 diseases – you can see the list at the Vermont Department of Health.

Most of these are what is called “inborn errors of metabolism” – genetic disorders that, if caught early, can be helped with changes in diet, special medications and treatments, and will grow up happier and healthier than if it hadn’t been done. Other problems that the screen can catch include low thyroid levels, toxoplasmosis that the baby caught in utero, and problems with the adrenal glands.

Does it make a difference? Yes! This screening catches about 5,000 babies a year in the United States whose lives will be very different – and much healthier – because of that heel stick.

Maybe this should be Celebrate Newborn Screening month!

September is Newborn Screening Awareness Month

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