August week 3: Abnormal Newborn screen

Newborn Screening


1. Waisbren SE, Expanded newborn screening: information and resources for the family physician. Am Fam Physician. 2008 Apr 1;77(7):987-94 
2. American College of Medical Genetics Website 
3. Kaye C, et al. Introduction to the Newborn Screening Face Sheets. Pediatrics. Vol 118, No 3. Sept 2006. p.1304-12

Case 1

You are on call in a community hospital and you are called by the nursery to counsel a mom who is refusing Vitamin K, Hep B vaccine, and the newborn screening. After discussion about Hepatitis and Hemolytic Disease of the Newborn, mom quickly agrees to both. However, she still has reservations about the newborn screen.

What are the risks and benefits of newborn screening? 
When is the ideal time to send the newborn screen? 
Is there an age cutoff to ordering a newborn screen? 
What if the patient needs a blood transfusion?

Case 2

After you successfully counsel this new mom, the ED calls you for a consult. The ED physician reports that a mother brought in her newborn baby after receiving a phone call that the baby’s newborn screen was abnormal.

How do you track down these results? 
How do you proceed for the following abnormal results?

Prep question #40, 2007:

You are notified by the newborn screening program that a 2 week old infant in your practice has an elevated phenylalanine level, which is confirmed by repeat testing. The mother reports that the baby is healthy and breastfeeding well.

Of the following, the MOST important first step in management of the infant is to:
A. Admit the baby to the hospital for further evaluation
B. Consult with a metabolic geneticist or nutritionist
C. Instruct the mother that she no longer should breastfeed
D. Place the baby immediately on phenylalanine free formula
E. Send urine for organic acid analysis