Newborn Screening

Programs that offer health screening services for neonates which are designed to prevent physical problems, intellectual disabilities and premature death through the early detection and treatment of genetic disorders which may not otherwise be detected until irreversible damage has occurred. Newborn screening is routinely offered for phenylketonuria (PKU) and congenital hypothyroidism, and in some areas, for galactosemia, maple syrup urine disease, sickle cell anemia, cystic fibrosis, congenital adrenal hyperplasia, biotinadase deficiency and a growing number of other metabolic, endocrine and hemoglobin disorders. A drop of blood is taken from each infant's heel prior to discharge and sent to a laboratory for analysis. A repeat specimen is recommended one to two weeks after birth if the original sample was taken within the first 24 hours of life. Newborn hearing screening is also available in some areas.