prenatal diagnosis

Prenatal diagnosis

The determination of whether a fetus possesses a disease or disorder while it is still in the womb.

Mentioned in: Wiskott-Aldrich Syndrome

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prenatal diagnosis,

any of various diagnostic techniques to determine whether a developing fetus is affected with a genetic disorder or other abnormality. Such procedures as radiographic examination and ultrasound scanning can be used to follow fetal growth and detect structural abnormalities; amniocentesis enables fetal cells to be obtained from the amniotic fluid for culture and biochemical assay for detection of metabolic disorders and chromosomal analysis; fetoscopy enables fetal blood to be withdrawn from a blood vessel of the placenta and examined for disorders such as thalassemia, sickle cell anemia, and Duchenne's muscular dystrophy. If any of the test results are positive and the child is likely to be born with a severe defect or disease, the parents need support and advice from genetic counselors on whether to terminate the pregnancy. If the parents decide to have the baby, the nurse can help educate them about the specific disorder and prepare them for the special care required of a handicapped or genetically defective child. Also called antenatal diagnosis. See also chorionic villus sampling, genetic counseling, genetic screening.

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prenatal diagnosis

Obstetrics The examination of fetal cells taken from the amniotic fluid, the primitive placenta–chorion, or umbilical cord for biochemical, chromosomal, or gene defects