Pijpers L, Reuss A, Stewart P A, Wladimiroff J W, Sachs E S
Department of Obstetrics and Gynecology, Erasmus University Rotterdam, The Netherlands.
Obstet Gynecol. 1988 Aug;72(2):223-4.
Seventeen cases of fetal cystic hygroma detected during ultrasound examination are reported. In nine instances, associated abnormalities were recognized, such as fetal hydrops and a two-vessel cord. All diagnoses were confirmed at autopsy. Karyotyping revealed normal findings in six cases, Turner's syndrome in eight cases, and Edwards' syndrome in one case; culture failure occurred in the remaining two cases. An ultrasound diagnosis of cystic hygroma should be followed by a careful search for other anomalies and by fetal karyotyping. Afterward, genetic counseling is indicated.
报告了17例超声检查时发现的胎儿颈部水囊瘤病例。其中9例伴有其他异常，如胎儿水肿和双脐动脉。所有诊断均经尸检证实。染色体核型分析结果显示，6例正常，8例为特纳综合征，1例为爱德华兹综合征；其余2例培养失败。超声诊断胎儿颈部水囊瘤后，应仔细检查是否存在其他异常，并进行胎儿染色体核型分析。之后，需要进行遗传咨询。
