Provider’s Guide to Newborn Metabolic Screening Disorders

The state of Maryland screens for over 50 disorders including endocrine, hematologic, and metabolic disorders. Maryland recommends two newborn screens; the first should be collected after 24 hours of feeding and the second after 7 days of life. About 10% of congenital hypothyroidism is missed on the initial screen but is picked up by the subsequent screen. The second screen picks up several children each year with conditions that are not detectable on the initial screen and, therefore, is vital to our newborn screening program.  In order to maximize optimal outcomes for infants identified on the second screen, the recommended timeframe for collection of the second screen has been changed from 1-4 weeks to 10-14 days of age, but specimens can be collected as early as 7 days of age. 
The timing for collection of the Newborn Screen differs for babies in the NICU. All babies admitted to the NICU should have a Newborn Screen collected as soon as possible after admission so the baby is screened prior to transfusion and initiation of antibiotics. Additional screens should be collected between 2-3 days of age, at the 10 day interval, and then again at 1 month or discharge (whichever comes first).
If your patient has an abnormal result that requires follow-up, the newborn screening follow-up team will call you and will work with you to create an appropriate follow-up plan for each baby.  Remember that every baby is different, so recommendations for follow-up of a particular abnormality may vary depending on circumstances; however, the links below can serve as a guideline for general disorder information.

updated 07/2019