What is Newborn Screening?

Newborn screening is the process of performing a series of tests on newborn babies to check for certain medical conditions. In the United States, many states have mandatory newborn screening which a hospital must offer parents. There are twenty-nine metabolic and genetic disorders which the March of Dimes recommends testing for at birth. However, not all states test for all twenty-nine disorders. Individual states have their own polices and laws regarding what tests a hospital must offer as part of their newborn screening program.

Although parents have the right to refuse mandatory newborn screening on the basis of religious reasons, almost all physicians and child health advocates recommend that newborns are screened. Several of the diseases which are screened for are metabolic or genetic disorders. If the illnesses are detected early, many of the problems associated with them can be prevented. Early detection can also allow treatment to begin right from the start, which can be lifesaving.

Most tests are done within the first twenty-four hours after birth. Newborn screening involves taking a blood sample, usually from the baby’s heel, and sending it to a specific lab that does newborn testing and analysis. The time it takes to get the results back can vary, however most results are back within a few days to a week. If the results come back positive for a specific disorder, additional precise testing is usually needed to confirm a diagnosis.

Although testing varies by state, all fifty states test for Phenylketonuria (PKU). An essential amino acid is not utilized properly in babies with this metabolic disorder. This can lead to abnormal development, including neurological problems and mental retardation. Babies with this disorder need to be on a special diet from the start to avoid developing the complications.

One of the other conditions screened for in all fifty states is congenital hyperthyroidism. This disorder can cause mental retardation because the baby's thyroid gland does not function efficiently. If the screening is done at birth, hormones can be taken which allow the thyroid to work normally. This can allow the baby to have normal development.

Other genetic and metabolic conditions which are screened for in some states, include cystic fibrosis and sickle cell anemia. Many states also provide a hearing test for newborns. Parents who want to find out what screening is done in their state can view the database on the National Newborn Screening and Genetic Resource Center website.