Neural tube defects in missed abortions - Embryoscopic and cytogenetic findings

被引:12
作者
Philipp, T
Kalousek, DK
机构
[1] British Columbia Childrens Hosp, Dept Pathol, Cytogenet Lab, Vancouver, BC V6H 3V4, Canada
[2] Danube Hosp, Ludwig Boltzmann Inst Clin Gynecol & Obstet, Vienna, Austria
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 107卷 / 01期
关键词
neural tube defects; chromosome abnormalities; missed abortion; transcervical embryoscopy;
D O I
10.1002/ajmg.10114
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Transcervical embryoscopy, a new technique for direct visualization of the first trimester conceptus was carried out in 116 cases of missed abortion. Embryonic neural tube defects and other localized developmental defects, were diagnosed in 10 out of 99 cases in which a complete embryoscopic evaluation was possible. All eight successfully karyotyped cases had a numerical chromosomal abnormality. A ninth unkaryotyped embryo with open spina bifida showed, on embryoscopy, a malformation pattern highly suggestive of triploidy. Our embryoscopic and cytogenetic findings provide valuable information for genetic counseling in future pregnancies. (C) 2001 Wiley-Liss, Inc.
引用
收藏
页码:52 / 57
页数:6
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