Mallmann Michael R, Reutter Heiko, Mack-Detlefsen Birte, Gottschalk Ingo, Geipel Annegret, Berg Christoph, Boemers Thomas M, Gembruch Ulrich
Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn,
Department of Obstetrics and Gynecology, University of Cologne, Cologne,
Fetal Diagn Ther. 2019;45(1):62-68. doi: 10.1159/000486781. Epub 2018 Feb 23.
Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations.
This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017).
The median diagnosis was made at 30+4 weeks of gestation, the earliest at 20+6 weeks, the latest at 37+2 weeks. All 20 fetuses presented with the typical cystic structure behind the fetal bladder. Additional malformations included urogenital malformations, hexadactyly, and heart defects. Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fe tuses, Mayer-Rokitansky-Küster-Hauser syndrome in 3/20 fetuses, and Herlyn-Werner-Wunderlich syndrome in 1/20. In 1 fetus pressure from an intraabdominal teratoma resulted in prenatal hydro(metro)colpos.
Hydro(me tro)colpos is a rare prenatal sonographic feature. Multidisciplinary prenatal counseling should include all potential syndromes that can present with hydro(metro)colpos in the prenatal setting.
阴道积水和子宫阴道积水是由于先天性阴道梗阻导致分泌物积聚引起的罕见畸形。阴道积水(或子宫阴道积水)可能是孤立存在的,也可能作为综合征性疾病的一部分与其他畸形合并出现。我们报告了一系列20例产前诊断为阴道积水(或子宫阴道积水)的病例,阐述了鉴别诊断,并展示了相关畸形的范围。
这是一项回顾性研究,涉及德国两个大型三级转诊中心在18年期间(2000 - 2017年)的20例患有阴道积水(或子宫阴道积水)的胎儿。
中位诊断孕周为30 + 4周,最早为20 + 6周,最晚为37 + 2周。所有20例胎儿均在胎儿膀胱后方呈现典型的囊性结构。其他畸形包括泌尿生殖系统畸形、多指(趾)畸形和心脏缺陷。产后随访显示,20例胎儿中有11例阴道积水(或子宫阴道积水)与肛门直肠畸形相关,20例中有4例与麦库西克 - 考夫曼综合征或巴德 - 比德尔综合征相关,20例中有3例与迈耶 - 罗基坦斯基 - 库斯特 - 豪泽综合征相关,20例中有1例与赫林 - 韦纳 - 温德利希综合征相关。在1例胎儿中,腹腔内畸胎瘤的压迫导致产前阴道积水(或子宫阴道积水)。
阴道积水(或子宫阴道积水)是一种罕见的产前超声特征。多学科产前咨询应涵盖产前出现阴道积水(或子宫阴道积水)的所有潜在综合征。