A few drops of blood from a heel prick shortly after birth is sent to the state lab for every baby born in a hospital, and most who are born at home. The screening looks for markers of critical health conditions and flags abnormal results to the family’s pediatrician, and to genetics specialists. In this episode of the Infant Series on the Young & Healthy Podcast, host Kate Setter sits down with genetic counselors Lisa Berry, LGC and Cecilia Goueli, LGC to answer the question: What happens next if a newborn screening shows an abnormal result? 

They explain everything families need to know about newborn screenings—from what to expect to how results are interpreted. Families will learn what to expect after an abnormal newborn screen, understand the possibility of false positives, and discover how to access support if a diagnosis is confirmed following screening. Don’t miss this insightful episode full of important guidance for new parents. 

Chapter Markers:

00:00:57 – What Is Newborn Screening and How Is It Done? 

00:02:48 – What Conditions Does Newborn Screening Detect? 

00:04:11 – How Is Newborn Screening Handled for Home Births? 

00:05:04 – Can Newborn Screening Be Done Too Late? 

00:05:45 – What Should Parents Expect After an Abnormal Newborn Screen? 

00:08:46 – Can Families opt Out of Newborn Screening? 

00:10:07 – Do False Positives Happen in Newborn Screening? 

00:11:06 – How Are Families Supported After a Flagged Newborn Screen? 

00:14:15 – What Do Follow-Up Tests Look Like for Newborn Screening? 

00:15:29 – What Does Guidance Post Diagnosis Look Like? 

00:19:59 – What Support and Resources Are Available for Families? 

00:22:54 – Final Thoughts and Wrap Up.