Secretary of Health Dr. Rachel Levine stressed the importance of the newborn screening program designed to screen babies at birth or shortly after for serious medical conditions and diseases, as well as hearing loss.
“Newborn screening tests provide early recognition of serious disorders and initiate treatment, as necessary, for children who are affected,” Levine said. “The birth of a child is an exciting, but also a stressful time for parents, and they may not understand the purpose of these screenings. These screenings are conducted with the goal of eliminating or reducing death, disease and disability in newborn children.”
Currently, there are 10 conditions mandated for screening in Pennsylvania and are tested for through the dried blood spot screen (DBS). Those conditions are:
– Phenylketonuria (PKU)
– Maple syrup urine disease (MSUD)
– Sickle Cell Anemia
– Congenital hypothyroidism (CH)
– Congenital adrenal hyperplasia (CAH)
– Classic Galactosemia (GAL)
– Glycogen Storage Disease Type II (Pompe Disease) (GAA)
– Mucopolysaccharidosis Type 1 (MPS-1)
– X-linked Adrenoleukodystrophy (X-ALD)
– Spinal Muscular Atrophy
There are no cures for any of these 10 conditions. However, there are treatments, which may include medication, special diets or a special formula. If the disorder is identified early, newborns may lead a healthy life with the help of these treatments.
Newborn screening is conducted through a DBS, a critical congenital heart defect screen and a hearing screen. For all children born in a hospital, these tests are usually completed prior to the baby being discharged. If the baby was born at home or in a birthing facility, the midwife or doctor will provide information to ensure the screening tests are completed.
There are an additional 27 disorders that can also be tested using the DBS. Different birthing facilities may or may not test for these additional diseases, so it is important that expectant parents have a conversation with their baby’s health care provider prior to delivery to determine which conditions are screened for.
A multi-disciplinary advisory board provides recommendations, guidance and support to the department regarding newborn screening. This board has the ability to add conditions to the screen list as needed.