McNellis, Donald Center for Research for Mothers and Children, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Last reviewed:March 2020
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- Ultrasound imaging
- Assessment of fetal well-being
- Assessment of fetal lung maturity
- Genetic diagnosis
- Chorionic villus sampling
- Related Primary Literature
- Additional Reading
The identification of disease or developmental abnormalities in a fetus before its birth. Prenatal diagnosis (Fig. 1) is a diagnostic determination of whether a developing fetus in the womb of a pregnant woman is affected by a disorder or malformation. It often implies genetic diagnosis, but identification of anatomical defects as well as assessment of fetal functions and maturity are also considered. Some of the relatively common diseases and disorders that can be diagnosed prenatally are Down syndrome, Tay-Sachs disease, cystic fibrosis, Duchenne's muscular dystrophy, hemophilia A, congenital adrenal hyperplasia, thalassemia, and sickle cell anemia. See also: Congenital anomalies; Cystic fibrosis; Genetics; Hemophilia; Human genetics; Muscular dystrophy; Pregnancy; Pregnancy disorders; Preimplantation genetic diagnosis and therapy; Sickle cell disease; Tay-Sachs disease
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