Bekker Mireile N, van den Akker Nynke M S, de Mooij Yolanda M, Bartelings Margot M, van Vugt John M G, Gittenberger-de Groot Adriana C
Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, the Netherlands.
Reprod Sci. 2008 Apr;15(3):295-304. doi: 10.1177/1933719107314062.
Increased nuchal translucency (NT), morphologically known as nuchal edema, is an ultrasound marker for aneuploidy. Turner syndrome presents with massive NT, called cystic hygroma. Conflicting data exist as to whether cystic hygroma and increased NT are different entities. Both are associated with jugular lymphatic distension. The authors investigated jugular lymphatics of trisomy 21, Turner syndrome, and normal karyotype fetuses. Fetuses were investigated using immunohistochemistry for blood vascular, lymphatic, and smooth muscle cell markers. Trisomy 21 fetuses showed nuchal cavities within the mesenchymal edema negative for endothelial markers. These were extremely large in Turner fetuses, showing similar characteristics. The skin showed numerous dilated lymphatics in the case of trisomy 21 and scanty small lymphatics in Turner fetuses. A jugular lymphatic sac was present in control and trisomy 21 fetuses and was enlarged in trisomy 21 cases. In Turner fetuses, no jugular lymphatic sac was observed. Nuchal edema in trisomy 21 and Turner syndrome appears to be a similar entity caused by different lymphatic abnormalities.
颈项透明层（NT）增厚，形态学上称为颈项水肿，是一种非整倍体的超声标志物。特纳综合征表现为巨大的NT，称为囊状水瘤。关于囊状水瘤和NT增厚是否为不同实体存在相互矛盾的数据。两者均与颈静脉淋巴扩张有关。作者研究了21三体、特纳综合征和正常核型胎儿的颈静脉淋巴管。使用免疫组织化学方法检测胎儿的血管、淋巴管和平滑肌细胞标志物。21三体胎儿在间质性水肿内显示出对内皮标志物呈阴性的颈项腔隙。这些在特纳胎儿中极大，表现出相似特征。21三体胎儿的皮肤显示出大量扩张的淋巴管，而特纳胎儿的皮肤则有少量小淋巴管。对照胎儿和21三体胎儿存在颈淋巴囊，21三体病例中颈淋巴囊增大。在特纳胎儿中，未观察到颈淋巴囊。21三体和特纳综合征中的颈项水肿似乎是由不同的淋巴异常引起的相似实体。
