Prenatal detection of neural tube defects: False positive and negative results
Aubrey Milunsky
Abstract
Aubrey Milunsky
Abstract
An estimated 6,000 to 8,000 babies with neural tube defects (NTDs) are born each year in the United States. The suffering of both child and family has been well documented.1-3 Prenatal detection early in the second trimester of pregnancy became possible in 1972 when elevated α-fetoprotein (AFP) concentrations in amniotic fluid in association with open NTDs were demonstrated in Edinburgh.4 These results have been amply confirmed.5-10 The AFP test is best used and most reliable between 14 to 16 weeks of gestation.8 With such prenatal diagnosis, termination of the abnormal pregnancy can be offered to the family. AFP is synthesized by the yolk sac and fetal liver and normally passes from the fetal serum into fetal urine and then into the amniotic fluid.
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An estimated 6,000 to 8,000 babies with neural tube defects (NTDs) are born each year in the United States. The suffering of both child and family has been well documented.1-3 Prenatal detection early in the second trimester of pregnancy became possible in 1972 when elevated α-fetoprotein (AFP) concentrations in amniotic fluid in association with open NTDs were demonstrated in Edinburgh.4 These results have been amply confirmed.5-10 The AFP test is best used and most reliable between 14 to 16 weeks of gestation.8 With such prenatal diagnosis, termination of the abnormal pregnancy can be offered to the family. AFP is synthesized by the yolk sac and fetal liver and normally passes from the fetal serum into fetal urine and then into the amniotic fluid.
Key concepts: Medicine, Neural tube, Amniotic fluid, Fetus, Prenatal diagnosis, Obstetrics, Yolk sac, Pregnancy