Newborn screening tests for medical conditions in the US, with 29 recommended by the March of Dimes, but not all states test for all 29. Early diagnosis can prevent problems and save lives, and all states test for phenylketonuria and congenital hyperthyroidism. Other conditions may be tested in some states. Parents can check their state’s screening database.
Newborn screening is the process of carrying out a series of tests on newborns to check for certain medical conditions. In the United States, many states have mandatory newborn screening that a hospital must offer to parents. There are twenty-nine metabolic and genetic disorders that the March of Dimes recommends testing at birth. However, not all states test for all twenty-nine ailments. Individual states have their own policies and laws regarding the tests a hospital must offer as part of their newborn screening program.
While parents have the right to refuse mandatory newborn screening on religious grounds, nearly all doctors and advocates for children’s health recommend that newborns be screened. Many of the diseases that are being examined are metabolic or genetic diseases. If diseases are caught early, many of the problems associated with them can be prevented. Early diagnosis can also allow treatment to start early, which can be life-saving.
Most tests are done within the first twenty-four hours of birth. Newborn screening involves taking a blood sample, usually from the baby’s heel, and sending it to a specific laboratory that tests and analyzes the newborns. The time it takes to get results can vary, however most results are returned within a few days to a week. If the results come back positive for a specific disorder, more accurate testing is usually needed to confirm a diagnosis.
Although tests vary by state, all fifty states test for phenylketonuria (PKU). An essential amino acid is not used properly in children with this metabolic disorder. This can lead to abnormal development, including neurological problems and mental retardation. Children with this disorder must be on a special diet from the start to avoid developing complications.
One of the other conditions tested in all fifty states is congenital hyperthyroidism. This disorder can cause mental retardation because the child’s thyroid gland is not working efficiently. If screening is done at birth, hormones may be taken that allow the thyroid gland to function normally. This can allow the child to develop normally.
Other genetic and metabolic conditions that are being looked into 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 is screened in their state can view the database on the National Newborn Screening and Genetic Resource Center website.
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