Newborn Screening and Follow up Program    

About Us                

A Special Time. . . A Special Test. Having a baby is a very special time in every parent’s life. In the first few days of your baby’s life, a small drop of blood is taken from your baby’s heel and tested by a laboratory for inherited genetic disorders.  

This process is called newborn screening. Newborn screening provides early identification of these disorders for treatment in order to prevent serious health problems such as physical disabilities, mental retardation and in some cases, possible death. Many symptoms of these disorders may not be present at birth.

The Pennsylvania Department of Health’s Newborn Screening and Follow-Up Program provides this special test to all infants born in Pennsylvania.  

All newborns are screened for the following inherited genetic disorders:

  • Congenital adrenal hyperplasia (CAH);
  • Congenital hypothyroidism (CH);
  • Galactosemia (GAL);
  • Maple syrup urine disease (MSUD);
  • Phenylketonuria (PKU); and 
  • Hemoglobinopathies (HGB).  

Act 36 was signed into law in 2008 expanding the follow-up services provided by the Department of Health. The intent of Act 36 is to codify existing newborn screening practice in Pennsylvania. The American College of Medical Genetics (ACMG) currently recommends newborn screening for 29 disorders (28 inherited genetic disorders and hearing screening) for which effective treatment is available. This recommendation is based on an ACMG report commissioned by the U.S. Health Resources and Services Administration. The March of Dimes has adopted the ACMG recommendation. Currently 100 percent of all birthing hospitals in the commonwealth are screening for all ACMG recommended disorders. In actuality, each hospital and birthing center may screen for up to 50 or more supplemental disorders. Under Act 36, the Pennsylvania Department of Health continues to provide for both screening and follow-up services for all reported abnormal newborn screening results and follow-up services for 23 additional inherited genetic disorders. All laboratories under contract to the commonwealth are required to report to the Department of Health the screening test results for the current inherited genetic disorders as well as the additional 23 disorders listed below:

Organic Acid Disorders

  • IVA Isovaleric Acidemia
  • GA I Glutaric Acidemia Type I
  • HMG 3-Hydroxy 3-Methyl Glutaric Aciduria
  • MCD Multiple Carboxylase Deficiency
  • MUT Methylmalonic Acidemia (Mutase Deficiency)
  • 3MCC 3-Methylcrotonyl-CoA Carboxylase Deficiency
  • Cbl A,B Methylmalonic Acidemia (Cbl A,B)
  • PROP Propionic Acidemia
  • BKT Beta-Ketothiolase Deficiency

Fatty Oxidation Disorders

  • MCAD Medium-Chain Acyl-CoA Dehydrogenase Deficiency
  • VLCAD Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
  • LCHAD Long-Chain L-3-Hydroxy Acyl-CoA Dehydrogenase Deficiency
  • TFP Trifunctional Protein Deficiency
  • CUD Carnitine Uptake Defect  

Amino Acid Disorders

  • HCY Homocystinuria
  • CIT Citrullinemia
  • ASA Argininosuccinic Acidemia
  • TYR I Tyrosinemia Type I  

Hemoglobinopathies

  • Hb SC-Disease Sickle-C Disease
  • Hb SA S-Beta Thalessemia  

Others

  • BIOT Biotinidase Deficiency
  • CF Cystic Fibrosis
  • Congenital Heart Disease (CHD)  

The Pennsylvania Newborn Screening and Follow-Up Program staff oversee the newborn screening process, including ensuring blood specimen collection occurs as required by law, testing and reporting of screening results. The Pennsylvania Department of Health Community Health Nurses provide follow-up services on all infants with abnormal results. Newborns are referred to the appropriate health care provider to receive proper medical evaluation, confirmatory testing, diagnosis and treatment. The program contracts with treatment centers to provide newborn screening evaluations and medical services.

The Pennsylvania Newborn Screening and Follow-Up Program manages a statewide pharmacy metabolic formula distribution system that supplies formula to diagnosed Pennsylvanians up to the age of 22. 

For additional information about Pennsylvania ’s Newborn Screening and Follow-Up Program, click any link below. 

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