For Patients/Families

Genetic screening
Screening to identify a person at risk for having or transmitting a genetic problem. For example, pregnant women can be screened for the risk that their unborn baby will have Down syndrome or spina bifida . The maternal alpha-fetoprotein screening for spina bifida and triple screen for Down syndrome risk are examples. After birth, screening of newborn babies is required in almost all states. Diseases commonly included in this screening are phenylketonuria (PKU), a serious inherited and treatable disease, sickle cell anemia, galactosemia and others. Genetic screening is important in the prevention and early treatment of genetic disorders.