She Fuman, Dong Shengwen, Yuan Bibo, Gao Xiaoli
aDepartment of Obstetrics and Gynecology, Tianjin Medical University General Hospital bTianjin Medical University, Tianjin, China.
Medicine (Baltimore). 2017 Nov;96(46):e8589. doi: 10.1097/MD.0000000000008589.
The pathogenesis of fetal megacystis is divided into obstructive and nonobstructive. Megacystis combined with chromosomal abnormalities is rare and most of the cases are nonobstructive.
The fetus showed posterior urethral obstructive megacystis with features of bladder enlargement, "keyhole" feature, and thick bladder wall.
Here, we present a case of fetal megacystis diagnosed by ultrasound at pregnancy week 15+2 and with multisystem abnormalities.
Moreover, the fetus showed edema, umbilical cord cyst, cardiac dysplasia, hook-shaped hand, and strephenopodia. These abnormalities strongly suggested chromosomal abnormalities. The fetus was diagnosed with trisomy 18 by amniocentesis. Posterior urethral obstructive megacystis was confirmed by pathology.
In conclusion, this case suggests that in the presence of fetal megacystis and multisystem abnormalities, causes should be investigated and the possibility of chromosomal abnormalities should be considered in the presence of multisystem developmental abnormalities.
胎儿巨膀胱的发病机制分为梗阻性和非梗阻性。巨膀胱合并染色体异常较为罕见，且大多数病例为非梗阻性。
该胎儿表现为后尿道梗阻性巨膀胱，具有膀胱增大、“钥匙孔”征及膀胱壁增厚等特征。
在此，我们报告一例在孕15+2周时经超声诊断为胎儿巨膀胱且伴有多系统异常的病例。
此外，该胎儿还表现出水肿、脐带囊肿、心脏发育不良、钩状手及足内翻。这些异常强烈提示染色体异常。经羊水穿刺，该胎儿被诊断为18三体综合征。病理检查证实为后尿道梗阻性巨膀胱。
总之，该病例提示，在出现胎儿巨膀胱及多系统异常时，应进行病因调查，且在存在多系统发育异常时应考虑染色体异常的可能性。
