Newborn Screening Fact Sheets

These newborn screening fact sheets were developed by the Committee on Genetics of the American Academy of Pediatrics (AAP) with considerable assistance and consultation from many individuals. It is hoped that the information contained in these fact sheets will assist the pediatrician in understanding the individual tests, their characteristics, and their strengths and weaknesses. Newborn screening is an individual function of each state; therefore, screening programs are not uniform throughout the United States (Table). Because the test results can affect children and parents in a variety of ways, there are special concerns about how states make decisions to adopt new tests and how they evaluate their current screening panels. Currently, many states are examining their practices. The information in the fact sheets was not designed to advocate specific newborn screening tests but to assist pediatricians in evaluating policies and procedures and in developing appropriate positions based on the needs of their patients and their geographic regions. Confirmation of positive newborn screening test results is always necessary. Additionally, newborn screening programs should not preclude the pediatrician’s assessment of clinical symptoms at any age. Some disorders (eg, galactosemia and maple syrup urine disease) may become symptomatic before the availability of the results of newborn screening and may warrant specific testing when clinically suspected. Furthermore, although newborn screening tests are designed to detect infants with metabolic illnesses, certain tests may also identify carriers (ie, heterozygotes) or individuals with variants who may be clinically asymptomatic. Such information is important for the family because of the identification of “carrier couples.” This can have an impact on future pregnancies and other family members. Thus, the pediatrician needs to be aware of this aspect of newborn screening and provide appropriate counseling or referral of such families. False-negative test results may occur for a variety of reasons. Pediatricians should be knowledgeable about the procedures used in their state programs and be aware of those groups of infants likely to be missed through screening (ie, those born prematurely, those who have received blood transfusions, those out-of-state or out-of-country births, and those