Newborn Screenings Essential to Detect Serious Medical Conditions

Newborn Screenings Essential to Detect Serious Medical Conditions

HARRISBURG, PA — The Wolf Administration is emphasizing the importance of the newborn screening program designed to screen newborn babies for serious medical conditions and diseases, as well as hearing loss.

“Newborn screening tests help provide early recognition of serious disorders and initiate treatment, as necessary, for children who are affected,” Secretary of Health Dr. Rachel 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 nine conditions that are mandated for screening in Pennsylvania and are tested for through the dried blot 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); and
  • X-linked Adrenoleukodystrophy (X-ALD).
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There are no cures for any of these nine conditions. However, there are treatments that 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 for 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 doctor prior to delivery to determine which conditions are screened for.

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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 screening list, as needed.

More information on newborn screening can be found on the Department of Health’s website at

Source: Pennsylvania Department of Health

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