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Neural tube defects in trisomy 18
Authors:David B. Flannery  Stephen G. Kahler
Affiliation:1. Department of Human Genetics, Medical College of Virginia, Richmond, Virginia 23298, U.S.A.;2. Division of Pediatric Genetics and Metabolism, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, U.S.A.
Abstract:In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.
Keywords:Neural tube defects  Antenatal testing  Trisomy 18
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