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MPHL : provider-disorders

Provider Disorder Information

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 identified by testing the second (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.

The time 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).

Below is a list of abnormalities you may see on the newborn screen. Please refer to the links below for more information on a specific analyte/disorder. Remember that every baby is different, so recommendations for follow-up of a particular abnormality may vary depending on circumstances. The newborn screening follow-up team will call you and will work with you to create an appropriate follow-up plan for each baby; however, the links below can serve as a guideline for general disorder information

Biotinidase Deficiency

Congenital Adrenal Hyperplasia (CAH)

Congenital Hypothyroidism

Cystic Fibrosis


Acylcarnitine Abnormalities - (Organic Acidemias and Fatty Acid Oxidation Disorders)

Amino Acid Abnormalities