This week Bobbi Conner talks with Dr. Neena Champaigne about checking for hidden health disorders with SC newborn screening. Dr. Champaigne is a Clinical Associate Professor in the Department of Pediatrics and Division Chief of Pediatric Genetics at MUSC.
TRANSCRIPT:
Conner: I'm Bobbi Conner for South Carolina Public Radio with Health Focus here at the radio studio for the Medical University of South Carolina in Charleston. All infants born in South Carolina are now screened for 58 different medical conditions shortly after birth. Doctor Neena Champaigne is here to provide the details. Doctor Champaigne is a Clinical Associate Professor in the Department of Pediatrics, and she's Division Chief of Pediatric Genetics at MUSC. Doctor Champaigne, tell us about newborn screening.
Dr. Champaigne: Newborn screening is something that has been performed for the last 60 years, and serves as an early detection system for a wide variety of rare but treatable conditions. The conditions can include anything from endocrine disorders, hemoglobinopathies, cystic fibrosis medical conditions, as well as various other genetic conditions. The goal really is: early detection will lead to treatment and avoidance of problems further down the line, and it can improve the lives of these babies.
Conner: And I understand in 2024, South Carolina added more conditions in this screening process for newborn babies.
Dr. Champaigne: That's correct. Every year we add 1 or 2 more conditions. This year we added X-linked adrenoleukodystrophy and another condition called argininemia. X-linked adrenoleukodystrophy is a neurological disorder that is progressive and can cause developmental delays and cognitive problems. Argininemia is a process where the body can't break down a certain amino acid of protein.
Conner: When does newborn screening happen for infants born in South Carolina?
Dr. Champaigne: There are actually three different parts to newborn screening. The one we think about the most is the blood spot test, which happens at 24 hours of life. This is collected and then ultimately sent to the Department of Health, and they test that and give us results within 5 to 7 days. The other two parts of the test are performed in the hospital before the baby goes home. This includes a hearing test to evaluate for hearing impairment, and a heart screen to look for critical congenital heart defects.
Conner: How many infants in South Carolina do have positive results for some of these conditions that they're screening for when they're newborns?
Dr. Champaigne: It does change from year to year, but roughly we are able to diagnose 1 in 300 newborns with one of these newborn screening conditions.
Conner: And what happens next if indeed screening is positive for an individual child? What unfolds after that in the way of testing or follow up or even intervention?
Dr. Champaigne: It's important to remember that this is a screen, and this screen is to determine a child's risk for having a particular condition. We always want to follow up with our providers, whether that be our primary care provider or a specialist, to complete the necessary diagnostic testing. Once a diagnosis is confirmed, they then will have a visit with a specialist to determine what treatment is appropriate. There are several great resources online for newborn screening information: babysfirsttest.org is a great resource for providers and families. You can also look at marchofdimes.org . And, to look at our more local newborn screening information, you can go to the South Carolina Department of Health website.
Conner: Doctor Champaigne, thanks for this update about newborn screening in South Carolina.
Dr. Champaigne: You’re very welcome. Thank You.
Conner: From the radio studio for the Medical University of South Carolina in Charleston, I'm Bobbi Conner for South Carolina Public Radio.
Health Focus transcripts are intended to accurately represent the original audio version of the program; however, some discrepancies or inaccuracies may exist. The audio format serves as the official record of Health Focus programming.
