Kanıt Hakan, Özkan Azra Arıcı, Öner Soner Recai, İspahi Ciğdem, Endrikat Jan Siegfried, Ertan Kubilay
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.
Clin Dysmorphol. 2011 Oct;20(4):190-193. doi: 10.1097/MCD.0b013e328348d99d.
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.
我们分析了超声检测出神经管缺陷（NTDs）胎儿的核型。在我们的研究中，共纳入了194例患有NTDs的胎儿。我们分析了NTDs的类型、核型、母亲年龄、诊断时的胎儿孕周以及胎儿性别。在这194例患有NTDs的胎儿中，87例为无脑儿，107例患有其他非无脑儿类型的NTDs。共有12例胎儿显示有染色体异常。87例无脑儿胎儿中有3例（3.45%）有染色体异常。无脑儿胎儿的性别比例为女胎占65.5%，男胎占34.5%。107例患有其他NTDs的胎儿中有9例（8.41%）有染色体异常。7例胎儿有孤立的NTDs，另有7例胎儿有其他超声异常。后一组中有2例核型异常。所有其他NTDs病例的性别比例为女胎占67.3%，男胎占32.7%。染色体异常数量较多，这证明对所有超声诊断为NTDs的胎儿进行产前核型分析是合理的。
