van Zalen-Sprock R M, van Vugt J M, van Geijn H P
Department of Obstetrics and Gynecology, Free University Hospital, Amsterdam, The Netherlands.
Am J Obstet Gynecol. 1992 Jul;167(1):94-8. doi: 10.1016/s0002-9378(11)91634-2.
We studied the outcomes of fetuses in whom cystic hygroma was diagnosed in the first trimester of pregnancy through the application of transvaginal ultrasonography.
In the period 1990 to 1991 22 fetuses with cystic hygroma were found. All fetuses had karyotyping and a complete ultrasonographic search for associated anomalies.
Aneuploidy was found in seven of 22 fetuses: four trisomy 21, two trisomy 18, and one translocation. Monosomy X was absent in this series. In 15 of 22 cases there was a normal karyotype. In 10 of 15 euploid fetuses the small nonseptated hygroma resolved spontaneously. In four of 15 euploid fetuses other malformations were detected with ultrasonography (i.e., polycystic kidneys, coarctation of the aorta, bladder outlet obstruction, and fetal hydrops).
Whenever a cystic hygroma is suspected in the antenatal period, even if of small size, a structured and detailed ultrasonographic examination and fetal karyotyping are recommended.
我们通过经阴道超声检查，研究了在妊娠早期被诊断为囊性水瘤的胎儿的结局。
在1990年至1991年期间，发现了22例患有囊性水瘤的胎儿。所有胎儿均进行了染色体核型分析，并进行了全面的超声检查以寻找相关异常。
22例胎儿中有7例存在非整倍体：4例21三体、2例18三体和1例易位。本系列中未发现X单体。22例中有15例核型正常。15例整倍体胎儿中有10例小的无分隔水瘤自发消退。15例整倍体胎儿中有4例通过超声检查发现了其他畸形（即多囊肾、主动脉缩窄、膀胱出口梗阻和胎儿水肿）。
在产前怀疑有囊性水瘤时，即使尺寸较小，也建议进行结构化和详细的超声检查及胎儿染色体核型分析。
