Newborn Screenings: What to Expect – S1 E4

[00:00:00] Jessica Stewart-Gonzalez: [00:00:00] Welcome to The Parenting Brief. I’m Jessica Stewart-Gonzalez, an Arizona working mom and Program Director for the Maternal, Infant and Early Childhood Home Visiting Program at the Arizona Department of Health Services. Each week on The Parenting Brief, we bring you quick tips to fit into your busy schedule.

We’ll talk about breastfeeding, doctor visits, sleeping, and everything in between. With expert advice along the way to help you become the best [00:00:30] parent you can be.

Thank you for joining us for another episode of The Parenting Brief. On our last episode, we looked at how you can have meaningful verbal communication with your little one. If you’d like to learn more about how you can develop early literacy and language skills with your child, you can go back and listen to that episode at any time. Today, we’re taking a look at the newborn screening. This is [00:01:00] your baby’s first test. If you’re expecting a little one and have some questions about the newborn screening process, we have you covered. Shortly after the birth of your baby, your healthcare provider will conduct a newborn screening to check for some inherited medical conditions.

A baby may appear healthy but have a serious condition that can’t be seen. This screening includes a blood spot screening and a hearing test. It’s a proactive checkup that’s incredibly important to ensure that your baby is healthy. And if there is something of concern, it can be identified early for [00:01:30] the best possible outcome.

What exactly are doctors looking for during these screenings? How is it done and why is it so important? To answer these questions and more I’m joined by Fran Altmaier. Fran is the Case Management Coordinator for the Office of Newborn Screening Follow Up at the Arizona Department of Health Services.

Thank you for joining us today, Fran. I’m really excited to be able to bring this information to our listeners. There’s so much that [00:02:00] happens right after a baby is born and there’s never enough time to learn what is taking place. And we always think later, oh man, I should have asked this question. Newborn screening seems to be one of these moments.

Can you walk us through the screening process and why the newborn screening is important?

Fran Altmaier: [00:02:17] Absolutely. It definitely is one of those things that happens in the sort of the hustle and bustle of after your baby was born. Ideally, we would hope you would have learned a little bit about newborn screening from your OB during [00:02:30] your prenatal care visits.

But if you haven’t, that’s okay. Your nurse should be talking to you about what’s going to happen with the newborn screening, giving you some educational information about the process, but newborn screening as a whole is a system of care. It really ensures that early identification of conditions that are easily treatable are found right after your baby’s born before they’re symptomatic.

And that’s the key to newborn screening is early and before [00:03:00] symptoms appear. So, what’ll happen between about 24 and 36 hours after your baby is born, they’ll come in and they will do a heel stick. They will warm your baby’s foot, poke the baby’s foot, and take five drops of blood onto this special filter paper card.

In addition, they’re going to be asking you for really important information to fill out on that card. And that information is vital for us to be able to get a hold of you should we need to. Hopefully we never have to [00:03:30] reach out to you, but if we have that vital information at hand, it really helps make that process run smoothly.

So, they’re going to ask you who’s your pediatrician, so make sure that you have that picked out. If not, they’ll talk to you about that. Contact information, accurate phone numbers and contact information is really key for us to be able to reach you timely. So definitely include that. So, once they’ve done that, he’ll stick on your baby,

they’ll put a little band aid on your baby’s food and that will be [00:04:00] repeated when your baby is five to ten days of age. The other thing that’ll happen are two what are called point of care tests. So, they’ll do a pulse oximeter where it’s kind of like the pulse oximeter they put on your finger. They’ll do one on your baby’s hand and one on your baby’s foot,

and they’re going to measure your baby’s blood oxygen level. Simple, painless quick. But again, one of those lifesaving things that can happen for your new one. And then the last test that they will also complete is a hearing screening. They want to make sure [00:04:30] that your baby is able to hear sounds properly.

But don’t panic. If your baby doesn’t pass the hearing screening at that moment, they’ll probably come back and redo it, or they’ll bring you back after you go home to check it one more time. So, all of these things that happen to your baby are to safeguard your baby’s health and make sure your baby starts out on the right foot.

Jessica Stewart-Gonzalez: [00:04:51] You had mentioned that there’s two of the heel pricks that take place. And the first one is in the hospital or wherever your baby is [00:05:00] born. And where does that second one take place? Do parents have to go back to the hospital?

Fran Altmaier: [00:05:06] Some hospitals, you do go back to it, but they will let you know. Typically, you’ll get a pink envelope to take home from the hospital with you and it has the second screening card in it. And between five and ten days of age, usually at your first well-baby visit with your pediatrician, they’ll either collect it there in the office or send you over to the lab with that pink envelope and that collection card to have that collected. But your pediatrician [00:05:30] will help you get that done.

Jessica Stewart-Gonzalez: [00:05:31] And with that, what exactly are they looking for?

Fran Altmaier: [00:05:36] Good question. So, there’s a long list of the 31 conditions. The two easy ones are those point of care tests. They’re checking for critical congenital heart defects. And those are defects that maybe you can’t hear through a stethoscope when that doctor is listening to your baby’s heart, but they’re dependent on a number of physiological factors that are happening as your baby transitions from the in-utero life into the outside [00:06:00] world. And then they are testing for hearing. So that hearing screening is really important to know that your baby is able to hear even those soft sounds. And if there’s any concerns, making sure that you get proper testing. The other list of the conditions for the blood spot test, that he’ll stick, that they did, the education materials that your nurse gave you at the bedside, there’s the list of conditions that we’re screening for. So, there’s 29 very common conditions that all the states are screening [00:06:30] for. Some that you may be familiar with would be hypothyroidism. A lot of people have heard of that. Cystic fibrosis is another one that many people have heard of.

And then there’s some very rare, long name conditions that are metabolic. So, it’s as your baby is taking in breast milk or formula and how is their body metabolizing that food breaking it down into energy. So, they’re testing for all of those things and then sickle cell. That’s another really important one, whether it be sickle cell trait or sickle cell disease that you learn [00:07:00] about that on a newborn screening, so that you can have those conversations with your provider about what to do next if you’re identified with any one of the 31 conditions on our panel.

Jessica Stewart-Gonzalez: [00:07:10] You had talked about the fact that the information on the card needs to be complete. Are they asking the parents for any of their known medical issues in that to identify? Or what if they don’t have any medical issues, is the newborn screening still important?

Fran Altmaier: [00:07:25] Absolutely. Most families don’t know [00:07:30] that they’re a carrier. So, you know, there’s a lot that goes into genetics, but you know, many people know dominant and recessive, and your average person carries so many recessive genes. So even though you don’t know anybody in your family that had one of these conditions, your baby could still have it because you just don’t know.

The easy ones are when we do know that there’s a family history and we make sure to take extra care in providing screenings rapidly for those little ones. But we [00:08:00] don’t ask for a parent’s medical history because again, they may not have any idea. It’s just the baby’s history that’s important. And even if you have other children who didn’t have anything show up on a newborn screening, this isn’t your first little one, and you’ve had the newborn screening.

You still need to have this baby tested because of just the way genes work.

Jessica Stewart-Gonzalez: [00:08:23] Are parents notified of the results of their newborn screening? I know you had mentioned that if there [00:08:30] is an issue then the contact information on that form is really important so that they can reach out to the parents. Is everybody notified of their newborn screening outcomes and how quickly do those results come in?

Fran Altmaier: [00:08:43] So in a sense of directly communicating result to a parent, not necessarily, no news is definitely good news. But every provider, so when you put your pediatrician’s name down on that card, every pediatrician will get a copy of that result because we really want to [00:09:00] support that relationship between the family and their primary medical provider.

We want them to review those results. So, if you go to your well-baby visit and your doctor doesn’t talk to you about it, ask them about it. Ask your pediatrician,

“Did you get my newborn screen? What were the results?” Because they should be able to go over that with you in as much detail as you need to understand those results, whether they’re normal or not. And typically, a critical result we would reach [00:09:30] out within a day or two of receiving that sample in the lab. And from the time that they poke your baby’s foot, and they send it to us is usually about 24 to 48 hours. And once we receive it in the lab tests start pretty quickly. Some conditions are very time critical and there’s a sense of urgency.

And those we know within maybe about three to four days of life and a pediatrician should have your newborn screen results by about day of life seven.

And

Jessica Stewart-Gonzalez: [00:09:58] you said no news is good news, [00:10:00] which is always one of those things that we like to hear. Is that also no news is good news with the pediatrician or do pediatricians receive those results, even if there is nothing wrong?

Fran Altmaier: [00:10:11] The ordering physician and the pediatrician will always get a copy of the results, regardless of what that is.
They will always get a copy of that result. So that’s why I suggest for a new mom to at her well-baby visit, ask the pediatrician, “Did you get my results? Is everything okay?” Because they should have it in their chart.

[00:10:30] Jessica Stewart-Gonzalez: [00:10:30] Well that is excellent. I think that there is so much information that comes from that and there is so much we don’t know, even if we’re looking at are seemingly perfect little babies and that early detection is definitely key for a lot of families.

What resources are available for parents looking for more information on newborn screenings?

Fran Altmaier: [00:10:49] We have a very comprehensive website. It’s AZnewborn.com. And that’s the Department of Health newborn screening website. It takes you right there. We have resources for [00:11:00] parents and providers. There’s a contact information for anyone in our program.

If you want more information, please feel free to visit our website and reach out to us if you need to.

Jessica Stewart-Gonzalez: [00:11:11] Excellent. Thank you so much, Fran, for all of this information for our listeners. I really, really appreciate your time.

Fran Altmaier: [00:11:17] Thank you for having me!

Jessica Stewart-Gonzalez: [00:11:27] Thank you for joining us for today’s episode of The Parenting [00:11:30] Brief. Want to learn more about newborn screenings? Head to the show notes for helpful links, information, and resources. And make sure you don’t miss out on our next episode. You can subscribe for free to The Parenting Brief on your favorite podcast app.

You can also share this episode with the parents or expecting parents in your life. Until next time, this is Jessica. You’ve got this, Mom. [00:12:00]