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Genetic Screening Definition
Genetic Screening – procedures that indicate whether an individual has the potential to have a genetic disorder. Among the most commonly performed genetic screening procedures in the United States are prenatal ULTRASOUND and maternal BLOOD levels of multiple biomarkers, such as ALPHA FETOPROTEIN (AFP), during PREGNANCY. These procedures may present suspicious findings though are not precise enough to allow diagnosis.
Other genetic screening procedures are those that test for conditions that occur in the general population and have significant consequences when undetected and untreated. For example, hospitals in the United States conduct routine newborn testing for PHENYLKETONURIA (PKU), an inherited metabolic disorder that results in severe intellectual impairment without treatment at the time of birth.
The findings of genetic screening, positive or negative, can have a margin of error for falsenegative as well as false-positive results. However, doctors use genetic screening when factors of increased risk for GENETIC DISORDERS, such as maternal age in pregnancy or family history, exist. The doctor may conduct further GENETIC TESTING and diagnostic testing when the overall health picture points to an increased risk for genetic disorders, even when the findings of genetic screening procedures appear normal. Genetic screening procedures are minimally invasive and typically present no risk to the mother or the fetus in prenatal screening or to the individual in screening conducted following birth or in adults.
See also AMNIOCENTESIS; AUTOSOMAL TRISOMY; CHORIONIC VILLI SAMPLING (CVS); CHROMOSOMAL DISORDERS; ETHICS IN GENETICS AND MOLECULAR MEDICINE; FAMILY PLANNING; FOLIC ACID SUPPLEMENTATION; GENETIC TESTING; NEURAL TUBE DEFECTS.