title: Chromosomal abnormalities in fetuses with ultrasonographically detected neural tube defects.
abstract: We analyzed the karyotype of fetuses with ultrasonographically detected neural tube defects (NTDs). In our study, we included a total of 194 fetuses with NTDs. We analyzed the type of NTD, the karyotype, maternal age, fetal gestational age at diagnosis, and fetal sex. Of the 194 fetuses with NTDs, 87 were anencephalic and 107 had other, nonanencephalic, NTDs. A total of 12 fetuses were shown to have chromosomal abnormalities. Three of 87 anencephalic fetuses (3.45%) had chromosomal abnormalities. The sex ratio for anencephalic fetuses was 65.5% : 34.5% for female and male fetuses. Nine of 107 fetuses with other NTDs (8.41%) had chromosomal abnormalities. Seven fetuses had isolated NTDs and a further seven fetuses had additional ultrasonographic anomalies. Two of the latter had abnormal karyotypes. The sex ratio of all other NTD cases was 67.3% : 32.7% for female and male fetuses. The high number of chromosomal abnormalities justifies prenatal karyotyping in all fetuses with ultrasonographically diagnosed NTDs.
authors.affiliation: Department of Perinatology İzmir, S.B. Ege Maternity and Women's Health Teaching Hospital, Turkey Universitätskliniken des Saarlandes, Frauenklinik, Homburg/Saar Department of Obstetrics and Gynecology, Klinikum Leverkusen, Leverkusen, Germany.
authors.forename: Hakan
authors.initials: H
authors.lastname: Kanıt
authors.forename: Azra Arıcı
authors.initials: AA
authors.lastname: Özkan
authors.forename: Soner Recai
authors.initials: SR
authors.lastname: Öner
authors.forename: Ciğdem
authors.initials: C
authors.lastname: İspahi
authors.forename: Jan Siegfried
authors.initials: JS
authors.lastname: Endrikat
authors.forename: Kubilay
authors.initials: K
authors.lastname: Ertan
mesh_terms: D059786:Abnormal Karyotype; D002869:Chromosome Aberrations; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009436:Neural Tube Defects / Q000000981:diagnostic imaging* / Q000235:genetics*; D011247:Pregnancy; D014463:Ultrasonography