Podobnik M, Singer Z, Podobnik-Sarkanji S, Bulić M
Department of Obstetrics and Gynecology, University Hospital Merkur, Zagreb, Croatia.
J Perinat Med. 1995;23(4):283-91. doi: 10.1515/jpme.1995.23.4.283.
We studied the outcome of fetuses in whom cystic hygroma was diagnosed in the first and early second-trimester of pregnancy using transvaginal ultrasonography. The purpose of this study was to evaluate the association between fetal cystic hygroma and fetal cytogenetic abnormalities, and the long-term prognosis. Thirty-five consecutive fetuses between 9.1 and 13.4 weeks of gestation diagnosed as having a nuchal hygroma were evaluated ultrasonographically and karyotyped. Those with a normal chromosome complement were ultrasonographically monitored throughout the remainder of the pregnancy to document the resolution of the hygroma. Eighteen of thirty-five fetuses were found to have a normal karyotype and five of these were aborted electively. The hygromas resolved in ten of these karyotypically normal fetuses within four weeks of initial diagnosis and they were phenotypically normal at birth. Seventeen fetuses were karyotypically abnormal with trisomy twenty-one being the most common abnormality. Prenatal cytogenetic analysis should be offered to women with fetal cystic hygroma diagnosed in the first trimester. A normal outcome is likely in those without chromosome abnormalities.
我们研究了在妊娠早期和妊娠中期通过经阴道超声诊断为囊性水瘤的胎儿的结局。本研究的目的是评估胎儿囊性水瘤与胎儿细胞遗传学异常之间的关联以及长期预后。对35例妊娠9.1至13.4周被诊断为颈部水瘤的连续胎儿进行了超声检查和核型分析。染色体组正常的胎儿在妊娠剩余时间内接受超声监测，以记录水瘤的消退情况。35例胎儿中有18例核型正常，其中5例选择性流产。这些核型正常的胎儿中有10例在初次诊断后四周内水瘤消退，出生时表型正常。17例胎儿核型异常，其中21三体是最常见的异常。对于在孕早期诊断为胎儿囊性水瘤的孕妇，应提供产前细胞遗传学分析。染色体无异常的孕妇可能有正常结局。
