Title: Pennsylvania | Baby's First Test | Newborn Screening | Baby Health
Headings: 
States Pennsylvania
Conditions Screened
The Pennsylvania Program
Download Brochure
What Conditions are Screened For in Pennsylvania?
Amino Acid Disorders
Endocrine Disorders
Fatty Acid Oxidation Disorders
Hemoglobin Disorders
Lysosomal Storage Disorders
Organic Acid Conditions
Other Disorders
About Newborn Screening in Pennsylvania
Program Overview:
How is Newborn Screening Paid for in ­ Pennsylvania?
Policies and Resources
Support for families:
Storage and Use of Dried Blood Spots:

Content: Pennsylvania | Baby's First Test | Newborn Screening | Baby Health
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States Pennsylvania
Conditions Screened
Pennsylvania currently screens for 38 conditions
The Pennsylvania Program
Each state runs its program differently, for more detailed information please visit their website here. Download Brochure
Here is a brochure for the state of Pennsylvania. Brochure »
PA
What Conditions are Screened For in Pennsylvania? Amino Acid Disorders
Argininosuccinic Aciduria (ASA)
Citrullinemia, Type I (CIT)
Classic Phenylketonuria (PKU)
Homocystinuria (HCY)
Maple Syrup Urine Disease (MSUD)
Tyrosinemia, Type I (TYR I)
Endocrine Disorders
Congenital Adrenal Hyperplasia (CAH)
Primary Congenital Hypothyroidism (CH)
Fatty Acid Oxidation Disorders
Carnitine Uptake Defect (CUD)
Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
Trifunctional Protein Deficiency (TFP)
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
Hemoglobin Disorders
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
Hemoglobinopathies (Var Hb)
S, Beta-Thalassemia (Hb S/ßTh)
S, C Disease (Hb S/C)
Sickle Cell Anemia (Hb SS)
Lysosomal Storage Disorders
Mucopolysaccharidosis Type-I (MPS I)
Pompe (POMPE)
Organic Acid Conditions
3-Hydroxy-3-Methylglutaric Aciduria (HMG)
3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
Beta-Ketothiolase Deficiency (BKT)
Glutaric Acidemia, Type I (GA-1)
Holocarboxylase Synthetase Deficiency (MCD)
Isovaleric Acidemia (IVA)
Methylmalonic Acidemia (Cobalamin Disorders) (Cbl A,B)
Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT)
Propionic Acidemia (PROP)
Other Disorders
Adrenoleukodystrophy (ALD)
Biotinidase Deficiency (BIOT)
Classic Galactosemia (GALT)
Critical Congenital Heart Disease (CCHD)
Cystic Fibrosis (CF)
Hearing loss (HEAR)
Severe Combined Immunodeficiency (SCID)
Spinal Muscular Atrophy (SMA)
About Newborn Screening in Pennsylvania
Program Overview: Newborn screening in Pennsylvania is completed to ensure every newborn is tested for metabolic, endocrine, hemoglobin, other diseases that can be identified through dried blood spot testing, heart disease, and hearing loss. There are three parts to newborn screening: heel sticks to collect a small blood sample
When blood is drawn from the human body in order to be tested for medical purposes
, a pulse oximetry
Pulse oximetry, or pulse ox, is a painless, non-invasive test that measures how much oxygen is in the blood. Infants with heart problems may have low blood oxygen levels, and therefore, the pulse ox test can help identify babies that may have Critical Congenital Heart Disease (CCHD). The test is done using a machine called a pulse oximeter, which is a sensor placed on the baby’s skin. The pulse ox test only takes a couple of minutes and is performed after the baby is 24 hours old and before he or she leaves the newborn nursery.