15: Newborn Screening

I. NEWBORN SCREENING (NBS)

This is a population-based system for the identification and early treatment of potentially devastating medical conditions. In the United States, this screening is mandated in every state, but the disorders included in the screening panels vary. A list of the screening tests provided by each state can be found on the National Newborn Screening and Genetics Resource Center website at http://genes-r-us.uthscsa.edu. An expert panel commissioned by the American College of Medical Genetics (ACMG) has recommended 29 conditions on newborn screening panels (Table 15–1). This chapter addresses selected disorders included in most state newborn screen panels, as well as special considerations related to discharge planning and follow-up. The American Academy of Pediatrics (AAP) has published newborn screening FACT sheets that address appropriate testing methods, follow-up, and diagnostic testing for all 29 disorders recommended by the ACMG.

II. TIMING AND SPECIAL CONSIDERATIONS

1. An initial specimen. It is typically drawn between 24 and 72 hours of life.

2. Obtain the specimen prior to blood transfusion. It is recommended practice to obtain a specimen prior to blood transfusion if a specimen has not already been sent.

3. Invalid results. Any results judged to be invalid by the performing laboratory or any results that are reported as positive must have a repeat specimen.

   1. Antibiotics. It is important to note that antibiotic administration will increase the chance of a false-positive NBS, which will require a repeat NBS to ensure that the patient does not have the underlying disorder.

   2. Preterm infants. These infants are much more likely to have an abnormal newborn ...