Newborn screening (NBS) is the well-established practice of testing all babies in their first days of life for certain disorders and conditions that can hinder normal growth and development. This testing is required in every state and is usually done before the baby leaves the hospital. The conditions screened for with NBS can cause serious health problems that start in infancy or childhood. Since these infants can appear healthy at birth, early detection with newborn screening allows doctors, and their care teams, to start treatment and to prevent morbidity and mortality.
Handouts for Patient Families
- Amino Acid Disorder (OTC/CPS)
- Argininemia
- Biotinidase Deficiency: English | Spanish
- Carrier Identification
- Carnitine Uptake Deficiency
- Congenital Adrenal Hyperplasia: English | Spanish
- Congenital Hypothyroidism: English | Spanish
- FSA Sickle Beta Plus Thalassemia
- Galactosemia: English | Spanish
- Glutaric Acidemia, Type II
- Guanidinoacetate Methyltransferase (GAMT) Deficiency: English | Spanish
- Hemoglobin SC Disease
- Homocystinuria/Hypermethioninemia
- Medium Chain Acyl CoA Dehydrogenase Deficiency
- Methylmalonic Acidemia and Propionic Acidemia
- Mucopolysaccharidosis Type 1 (MPS-1)
- Mucopolysaccharidosis Type 2 (MPS-2)
- Organic Acid Disorder
- Pompe Disease
- Phenylketonuria/Hyperphenylalaninemia
- Possible Thalassemia
- Presumed Sickle Cell Disease
- Tyrosinemia
- Very Long Chain Acyl-CoA Dehydrogenase Deficiency
- X-Linked Adrenoleukodystrophy