Redford D H, McNay M B, Ferguson-Smith M E, Jamieson M E
Prenat Diagn. 1984 Sep-Oct;4(5):377-82. doi: 10.1002/pd.1970040509.
During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultrasound, affecting particularly the back of the neck, may be a commoner manifestation of several aneuploid syndromes than has hitherto been recognized.
在一年时间里，苏格兰西部医院有5例孕中期胎儿出现囊状水瘤并伴有不同程度水肿，前来找作者就诊。其中2例胎儿核型为45,X，另外各有1例胎儿核型分别为47,XY,+21和47,XX,+18，第5例胎儿核型正常，为46,XY。超声可检测到的胎儿水肿，尤其影响到颈部后方，可能是几种非整倍体综合征比以往认识到的更为常见的表现。
