Heel Prick

Learn why this required newborn test is done.

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-So, what we're gonna do is the newborn screen test. Basically, Dr. Robert Guthrie discovered how to test for PKU, which is phenylketonuria, a disorder. It's an enzyme disorder in children that can lead to mental retardation if given an improper diet. All right. This is the testing for the newborn screen that's done mandatorily on every baby born in New York State after 24 hours of life at a minimum. The reason for that is some of the test that we performed on the blood sample you need to-- they need to be performed once the baby has actually been fed a few times. So, his discovery of how to test for PKU evolved into the newborn screening program for every state. This is what we actually-- once we pricked the heel, we put in each one of these circle's drop of the baby's blood. And within 24 hours of collection, the sample has to be sent to New York State by mail. They'll receive it and within 2 weeks of life will get a result that we'll be able to pursue the results of the newborn screen. The newborn screen will test for over 40 things in New York State. There's a whole host of things that if we know soon enough we can change the course of a life with. In New York State for instance, it is sent to the New York State lab and that's where it's tested. Other hospitals and other states might do it differently. It might be tested in their own facility, but I would imagine that at most places it's sent to a central place in that state. We'll look at his heels. It's pretty much mandatory in most states. Maryland and Wyoming are not mandatory. Also, if you have religious objection, those would be other reasons that you wouldn't necessarily have to have the newborn screen done. Prick the heel. That's all. And you'll allow a little blood to flow. Typically, the newborn screen is the state's obligation to notify the hospital record and the parents that there's an abnormal result. I would encourage parents to insist their doctor pursue the results in writing. The results will come back around 2 weeks of life. A lot are false positives, which means the test shows that it's positive, but it's just a crude screening tool, which means that we have to do other diagnostic tests to confirm that a baby would have an actual illness. This does not mean someone's being diagnosed with something. What it means is that there were some abnormality in the specimen. It could be the way it was collected. It could be how it was run in itself and it's meant to just pick out those few cases that actually have these rare disorders. Certain states only test for 4 different things, others around 30 plus different tests they could run in terms of illnesses from HIV, sickle cell disease, cystic fibrosis, congenital hypothyroidism, PKU. PKU and congenital hypothyroidism tend to be tested for in every single state. PKU is phenylketonuria and phenylketonuria is an enzyme deficiency where they can't breakdown an amino acid phenylalanine. Phenylalanine is in most foods that you eat and what happens is since they can't break it down, the phenylalanine accumulates in the body and crosses the blood brain barrier and can lead to severe mental retardation. All you have to do is change the diet of the infant with a special phenylalanine-free diet and a low protein diet and they will live a normal happy life. Cystic fibrosis is a defect in chloride channels and you have chloride channels in every cell in the body. You have them in the lungs. You have them in the digestive track. You have them in the salivary glands, sweat glands. And what happens is because these channels are defective, they cause the mucus to accumulate in those areas. Typically, it's the long complications with cystic fibrosis, which is an inheritable disorder, that lead to their demise later in life. So, knowing that someone has it early on, you can hopefully act to optimize their nutrition, get them treated sooner for infections and hope-- and get them plugged in really to a CF accredited center so that all of their needs are met very early on before damage is down. You learn that the baby potentially has congenital hypothyroidism by having a positive newborn screen around 2 to 3 weeks of life. You do repeat testing. If that also confirms, then you start the baby on Synthroid, which is a thyroid replacement hormone and you chance the course of their life. Most of the things that the newborn screen test for have no symptoms in the first few months of life, but if it was, say, month 5 that you discover that a baby has congenital hypothyroidism, you're pretty much guaranteeing that it's already a little late to start the Synthroid therapy. The newborn screen program in itself can detect a lot of false positives then you might have less than 5% of those be accurate through diagnosis, but to those people, it's 100% of their life that's changed. So, unfortunately, a lot of screening tools in general from ultrasounds to the newborn screen can, the downside, increase parental anxiety, but for those few people where it's a legitimate result, it changes the course of their future. The results will come back to the state typically around 2 weeks of life and will know that everything is perfect and fabulous for little Brody. Right little person?