They are the first tests your baby will undergo once welcomed into the world. Jennifer Kloesz, MD, Interim Division Chief for Newborn Medicine for UPMC explains what you can expect and why the tests are important to your child’s health.
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– This podcast is for informational and educational purposes only. It is not medical care or advice. Clinicians should rely on their own medical judgments when advising their patients. Patients in need of medical care should consult their personal care provider. They are the first tests your baby will undergo once welcomed into the world. Newborn screenings can provide invaluable information about your child’s health, and here to walk us through what’s involved is Dr. Jennifer Kloesz. She’s the interim division chief for Newborn Medicine at UPMC. Thank you so much for joining us.
– My pleasure. It’s great to be here.
– So we touched on it in the beginning, but in general, why are newborn screenings so important?
– We test for a whole bunch of different disease conditions, and for a lot of these different disorders or diseases, there’s things that we can do to help. We may not be able to cure the disease, but if we can intervene and get treatment going, or get the baby hooked up with some other type of intervention, we can really maximize that baby’s potential. We can make a huge difference in that baby’s life. And in some of these disorders, it can be lifesaving. So it’s so important to get these screenings done on time before the baby leaves the hospital, or figure out a way to get those screenings done if the baby isn’t born in a hospital.
– So, time is of the essence. So, the immediate tests that happen right after birth: Tell me about those.
– Well, the first thing we do, of course, is the Apgar screen or the Apgar score, which isn’t actually so much of a test. It’s more of an assessment. This goes back to the 1950s. Virginia Apgar was an anesthesiologist who wanted a way to be able to standardize assessment of babies. She was looking at a way to standardize how she was assessing babies as she was providing anesthesia. And then it became this big thing of looking at newborns as they were first born. And it really just tells us how stressed the baby was in utero right before they were born and how they’ve responded to resuscitation. We don’t base any of our treatments or resuscitation on the scores. It’s just an objective way for us to say this baby was super stressed right before they were born, and then they did well with the resuscitation and they’re going to be just fine. Or in some cases, maybe this is a baby we want to pay a little more attention to after the immediate newborn period after they were first born. Maybe this is a baby we want to check back on in a few minutes or see how they’re doing in a half-hour, an hour, and make sure that they’re continuing to do OK.
– So, if you say score, is it better to have a high score or a low score? What can parents expect? And what are some of the things besides how stressful was this baby? Are there specific things that you test for in the Apgar?
– Yeah, the Apgar, we’re just looking at how the baby looks at one minute and five minutes of life. So literally, baby was born at one minute, a little bell goes off. We don’t consciously stop everything that we’re doing at that point and say, “Oh my goodness, what’s this baby’s score?” But it just is a little audio reminder of us to, oh yeah, we should think about, retrospectively, how this baby looked at that one minute and five minutes. And we’re just looking at the baby’s overall state. We’re looking at their heart rate, how fast they’re breathing, or how well they’re breathing, how they’re moving around, what their color is — meaning, are they pink or are they kind of dusky, a little bit of blue? They’re not breathing so well right now. And then, also kind of their grimace, their reflexes, and what they’re responding to. And it’s a zero, a 1, or a 2, for all five of those criteria. And then we just add them up. So, it can be anywhere from a zero, which obviously the baby isn’t doing well at all, all the way up to a 10 at both one minute and five minutes.
– So, in that essence, we want to get to a 10. And even if it is a lower score, explain to new moms what you do and what steps take place if the baby does have a low score.
– Yeah. And first of all, it’s pretty darn rare to give a baby a 10. I think I’ve given one 10, and I’ve been doing this a really long time. I’ve been around for a lot of babies’ deliveries, and we just really don’t see babies that are perfectly pink even at five minutes, but we really caution parents not to worry too much about the scores. It’s really more for us to say, “Oh, your baby was a 3, and then look, they were an 8 at five minutes. They started at a 3 because they were just having a little bit of trouble transitioning. They were having a little bit of trouble getting used to this. And by the time they had five minutes, they looked great.” Or, “Yeah, they’re still a little bit punky. They’re still just having some difficulty transitioning at five minutes. We’re just going to pay a little bit more attention.” These scores have no bearing whatsoever on how that baby’s going to do in school, or what they’re going to do in their careers, or anything like that. It’s really just for us to say how’d the baby look when they were born, and how’d they respond, and do we need to keep a closer eye in this baby?
– And so, typically, do you wait until after the five-minute test to even discuss anything with parents?
– Oh, yeah, yeah, absolutely. We really don’t base much of anything on those initial scores within those first few minutes of life. It’s all stuff that we look at afterwards.
– OK. So that happens immediately. Within the next 24 to 48 hours, there are other things that you look at and measure. Tell me about those.
– It includes everything from looking at the baby’s jaundice level, their bilirubin level, to some of the state-mandated screens, meaning that all states, including Pennsylvania, have certain disorders that we have to either do blood work to test for, or we check the baby’s hearing, or we check the baby’s oxygen levels in their blood with pulse oximetry. It looks like a little Band-Aid with a little light on it that tells us what the oxygen levels are in the baby’s blood to test for heart diseases.
– When you’re doing that with the blood test, what sort of immediate conditions beyond anything standardized by the state, what are some of the immediate conditions you look for in a blood test?
– Pennsylvania actually mandates a bunch. There’s a bunch of things. The little blood spot, or the heel stick, or the PKU is called a whole bunch of different things. Right now, we’re mandated to test for 10 different diseases. And then, most hospitals, including all of the hospitals in this area, test for, oh my goodness, I think it’s up to 40 other different diseases as well. And it’s everything from sickle cell disease, thalassemia, some of the blood disorders, to endocrine problems like low fibroid levels, to metabolic disorders where you can’t break down protein or you can’t break down certain types of fats or something like that. So we test for all of these just with that little heel stick, and we get a couple drops of blood and send it off to the state labs, and they’re able to test for all these different disorders. And we do that test between 24 and 48 hours of life.
– So as a new mom, I hear that. And I’m like, “Oh, that’s wonderful, on one hand, that they can test for all these things at once.” Also, terrifying because you think if you’re testing for so many things, you’re going to find something wrong.
– It is. And I think it’s important to realize that every single one of these is actually extremely rare. Some of them are more rare than others, depending on your family, or your genetic makeup, or what else runs in your family. For example, families with cystic fibrosis are going to have a higher chance of having a positive test for cystic fibrosis than the general population. But if you look at each one of these diseases, they’re actually extremely rare. So the chances of a baby having any one of these is very rare. It’s just, it’s important to get these screenings done because we can do something about them. We can get special diets started, we can get treatment, or we can get the baby referred to the specialist.
– And that’s what I was going to say to you. So how long does it take before you get the results back? And then if there is an issue, what are sort of the next steps?
– These tests all come back within about 48 to 72 hours. Now, of course, that means a lot of our babies have already been discharged, because babies are usually discharged from their birth hospital within 24 to 72 hours depending on what type of delivery they had and assuming that everything went well. So, then, it’s incumbent upon us to make sure that the pediatrician or the family medicine doc, whoever it is that’s seeing that baby as an outpatient, gets the results of those labs and knows what to do with them. These are all screening tests, meaning that we test for a whole bunch of different things, but we have a lot of false positives. And that’s OK, because we design it that way because we don’t want to miss any possible disease. So we want to catch as many as we can, knowing that some of them are going to be false positives. So when we get this result back, as the follow-up physician, or in my case, when some of my little NICU babies obviously are still with us, then we have to figure out what’s the next test. We have to figure out how do we confirm this, that this test is actually positive, and know then who to refer the baby to. Do they need to see the hematology doctors at Children’s? Do they need to see the endocrine doctors at Children’s? Do they to be hooked up with the CF Center, that kind of thing. So, then, knowing, first of all, confirm that it’s truly positive, and then where do we send them next for whatever additional treatment they might need.
– Hearing. How do you perform a hearing test on a baby?
– It’s pretty cool. Obviously, the baby can’t raise their hand like we do when we have our hearing test. So we try, first of all, to get a sleeping baby because we want the baby calm so they’re not responding to everything else around them. And then they put little earphones over the baby’s ears. And then, depending on the hospital, there’s a couple of different ways you can test for it. There’s either a little electrode that actually goes into the baby’s ear that measures some movement within the tiny little parts of the ear, or little electrodes that go on the outside of the baby’s skull that pick up electrical responses. So then, we give a little click or little sound through the little earphones, and then the electrodes either within the ear or around the baby’s skull, pick up those impulses and say, “Yeah, this baby’s brain is processing that noise.” We’re able to see that there’s electrical activity, that the baby’s hearing that sound.
– Wow. That’s fascinating. It sounds so cute. The baby with the little headset.
– With the little headset, exactly.
– And you touched on this. When it comes to heart screening, what all goes into that, and how do you perform a heart screening?
– The critical congenital heart disease screening, or CCHD, or heart disease screening that we do, takes advantage of knowing that the most severe heart disorders — in other words, these are structural problems of the baby’s heart — produce low oxygen levels in the baby’s bloodstream. We figure this out, then, by putting the pulse ox — the little Band-Aid with the little light — on the baby’s finger, and then also on one of their feet, usually, and looking at the oxygen levels in the baby’s bloodstream on the finger compared to the feet. And then we have a sense if they’re both low, what that could mean versus if one is high and one is low, it’s a nice indicator for us that this baby may have a problem with the structure or the form of their heart. If we have a suspicion of that, then we do an ultrasound or an echocardiogram of the baby’s heart to confirm it.
– These all sound so important, so critical in these first days of life. If someone has a baby at home or someone has a baby not in the hospital, are all of these screenings mandatory in Pennsylvania? What happens?
– So these are all mandated. However, any parent can decline for religious reasons or whatever. You certainly do not have to have any of these screenings done. We certainly think it’s very important to get all of these screenings done because we can do something about them if we identify that there’s a problem, but we do have families that decline. We also, because of all the state mandates or because of all the state regulations, have all of these available to all the birth centers. So, the midwife center or any place like that has the pulse ox machine, has the hearing equipment, has the ability to do the blood work and send those results off to the state labs just like being born in a birth hospital, or if your baby’s born at home with a lay midwife or something like that, then the pediatrician, the family medicine physician, whoever’s seeing that baby as an outpatient, can also figure out how to get that done. So, whether it’s sending the baby to an outpatient lab to have the blood screen done, or doing the pulse ox in their office, they’re able to accomplish that as well.
– So, you touched on this earlier about things that are mandated in Pennsylvania. And, the recommended uniform screening panel, not every state requires —
– The same ones.
– The same ones. We’re taping this in Pennsylvania. Obviously, we have hospitals in other areas as well. How would you say Pennsylvania stacks up in terms of the requirements and getting lots of things tested?
– I think we’re really good. You know, if you look across the country, there are usually around six disorders that everybody tests for. So, any U.S. state or any U.S. territory kind of test for at least six disorders. And Pennsylvania, we’re right now up to 10 that we’re mandated to test for. And then we have this supplemental panel that includes, it’s somewhere around 40 or 50 additional disorders that pretty much every hospital in Pennsylvania tests for as well. So we’re very broad in that. And it has to do with our state newborn screening program, the different physicians that sit on that advisory council, what they recommend as being important to screen for. I think we’re probably up close to the top as far as which disorders we screen for.
– Yeah. And so, again, what do you want to say to parents about just how important these are and time being of the essence? And, are these done so quickly after birth just because it’s more efficient to do it that way? Some might say, wouldn’t there be some value in waiting a little bit because the child has been here a little bit longer so we would see more? Why is that timing so important?
– Some of these disorders are actually quite dangerous the longer you wait, especially some of the metabolic disorders and endocrine disorders. We know that the longer we wait, the more brain damage can be done or the more dangerous it is for the baby with some of these, particularly the ones that we test for with the blood spots that we get within those first 24 to 48 hours. So, certainly time is truly of the essence for those. The sooner we identify it, the sooner we can get treatment started, whether it’s enzyme treatment or special formula, special diet, those kind of things are so important to make sure that we’re maximizing that baby’s potential, that we’re doing everything we can to keep that baby healthy. Something like hearing screening. You could argue, “Oh, does it really tell you that much right after the baby’s born?” Maybe not. It is a captive population. So, it is an easy way to make sure that the baby’s getting that hearing screened. But we also know that we really want to identify hearing problems by about 3 months because we can intervene and help that baby with hearing aids, as crazy as that sounds, by about 6 months, when it’s so important for language and speech to begin to develop. So we really want to have whatever we’re going to do for that baby in place by 6 months so they can have normal speech and development.
– So, at 6 months, a baby can have a hearing aid? I was not aware of that. So, a moment of reassurance now for parents because you know, we’ve talked about all these scary things that could happen. What do you want to say to them that, even if an issue is found, and you touched on this, you can start early, but about not being afraid to have conversations with the hospital, with the doctor. What do you want parents to know?
– Yeah. Yeah. I think, first of all, all these are extremely rare. If you look over a huge population, yes, we’re going to identify a couple of babies every year with one or a couple of these disorders. But each individual baby, extremely rare for your baby to be diagnosed with any of these. And to be reassured that if we get a positive test on any of this, whether it’s the hearing screen, or the heart disease screen, or the blood spot, the metabolic screen, we know the right people to get you to. There are experts all over, not just in Pennsylvania, all over the country, of course, that someone is going to be able to help you. And your physician is going to know how to get you to that person to make sure we can do everything we can for your baby.
– Just out of curiosity, how did you choose this as your field of medicine?
– I always liked kids, and then I realized that I really liked babies, and I really liked taking care of sick babies, as odd as that sounds. But I really like being able to help babies and their families through sometimes some very difficult journeys. So, it’s just fascinating work. And most of our babies get better, which is extremely rewarding.
– You were talking earlier: Babies are resilient.
– They’re so resilient compared to bigger people. I love big people, too, but our babies are remarkably resilient. They do tend to get better.
– Well, doctor, some great information. Thank you so much for walking us through what’s involved. We appreciate your time today.
– My pleasure. Thanks very much.
– I’m Tonia Caruso. Thank you for joining us. This is UPMC HealthBeat.
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From nutrition to illnesses, from athletics to school, children will face many challenges growing up. Parents often will make important health care decisions for them. We hope to help guide both of you in that journey. UPMC Children’s Hospital of Pittsburgh is a national leader in pediatric care, ranking consistently on U.S. News & World Report’s Best Children’s Hospitals Honor Roll. We provide expert treatment for pediatric diseases, along well-child visits, urgent care, and more. With locations across Pennsylvania, Maryland, and West Virginia, you can find world-class care close to home. We also work closely with UPMC Magee-Womens Hospital, a national leader in care for newborns and their mothers. Our goal is to provide the best care for your children, from birth to adulthood and beyond. Visit our website to find a doctor near you.