Shortly after birth, while still in the hospital, newborn infants are screened for serious genetic and medical conditions. Newborn screening is intended to identify children at increased risk for selected genetic, infectious, or other congenital disorders at the earliest stages. Newborn screenings allow doctors to educate families and ensure that babies with abnormal test results receive additional testing and treatment. With early diagnosis, treatment can begin right away, before serious problems occur or lifelong health problems begin.
Screening tests for newborn infants may vary by state. While all states require newborn screenings for all babies born in the state, each state determines which disorders are part of their screening program. Newborn infants are typically screened for the following disorders:
- Phenylketonuria (PKU)
- Congenital hypothyroidism
- Cystic fibrosis
- Medium-chain acyl-CoA dehydrogenase (MCAD ) deficiency
- Sickle cell disease
- Biotinidase deficiency
- Congenital adrenal hyperplasia
- Maple syrup urine disease (MSUD)
All states require screening to be performed on newborns, however, in some cases parents may refuse these test for religious purposes. Since a newborn screening is designed to protect the health of the baby, any decision to decline testing should be discussed with a doctor. While each state screens for many conditions, there may be more conditions that can be detected at birth. Parents may request additional or supplemental screenings if there is a family history of certain medical conditions, if they have another child with a disorder, or if they have other health-related concerns. Because state programs are subject to change, it is important to obtain the latest information about the state's newborn screening program.
The Newborn Screening Process
The newborn infant is usually screened within the first 24 hours of life. The screening is performed through a simple blood test. During the blood test, which is sometimes referred to as a heel stick, the baby's heel is pricked to collect a small sample of blood. The test for PKU may need to be repeated if the infant is tested too soon after birth. Additional newborn screening tests may include:
- Hearing tests to determine if the baby's ears respond to sound
- Pulse oximetry test to measure oxygen levels is in the blood
Some states require babies to undergo a second newborn screening when they are two weeks old. This ensures the most accurate results from the screening tests. If a hearing test is not conducted while the infant is in the hospital, the child should be screened during the first three weeks of life.
The results of the newborn screening tests are obtained by the doctor and discussed directly with the parents of the infant. Abnormal test results from a newborn screening do not necessarily indicate the presence of a disorder. They do indicate, however, the need for further diagnostic testing. The initial screening provides only preliminary information that must be followed up with more specific diagnostic testing. If additional testing confirms that an infant does have a disorder, patients may be referred to a specialist for further evaluation and treatment.