规范化早孕期超声筛查单胎胎儿巨膀胱的临床价值

Clinical value of standardized prenatal ultrasonography in diagnosis of single fetal megacystis during early trimester

目的探讨规范化早孕期超声筛查单胎胎儿巨膀胱的方法及临床价值。方法 2009年1月至2016年5月在南京大学医学院附属鼓楼医院产前诊断中心检查的单胎妊娠孕妇16 586例,于妊娠11-13^＋6周行规范化早孕期超声筛查,并测量胎儿膀胱大小,彩色多普勒显示双脐动脉;对超声检出巨膀胱的胎儿均追踪妊娠过程及临床结局。结果产前超声检出单胎巨膀胱胎儿8例,5例胎儿染色体检查,1例核型为18-三体,4例核型均正常;早孕期超声检查合并的畸形为颈项部透明层增厚、胎儿中肠疝、右上肢腕关节过度屈曲、未见胃泡;超声随访至中孕期检查合并的畸形为先天性心脏病、肾积水、无羊水;3例胎儿早孕期引产终止妊娠,1例孕15周胎儿自然胎死宫内,4例胎儿中孕期引产终止妊娠;引产胎儿病理检查诊断：梅干腹综合征2例,尿道闭锁1例,后尿道瓣膜1例。结论规范化早孕期超声结构筛查可检出胎儿巨膀胱,早孕期检出的巨膀胱胎儿妊娠结局较差。

Objective To determine the method and clinical value of standardized first-trimester ultrasonographic diagnosis of single fetal megacystis in singleton pregnancy. Methods A total 16 586 cases of singleton pregnancy at gestational age between 11-13^＋ 6 weeks were scanned in our hospital by color Doppler ultrasound according to the standardized prenatal ultrasound from Jan 2009 to April 2016. Fetal bladder was defined by showing two umbilical arteries and the size of the bladder was measured. Cases of fetal megacystis diagnosed in first-trimester were followed sonographically and clinical outcomes were recorded. Results Totally eight cases of fetal megacystis were detected. Fetal karyotyping was performed in five cases, among which four cases had normal karyotype and one case was confirmed as trisomy 18. Thickened nuchal translucency（NT）, mid gut herniation, excessively flexed right wrist joint and absence of fetal stomach were associated anomalies detected in first trimester ultrasound. Follow-up second-trimester ultrasound also found associated anomalies including congenital heart disease, hydronephrosis and anhydramnios. Terminal of pregnancy was performed in three cases in early pregnancy. One case of spontaneous fetal death occurred at gestational age of 15 weeks, and the other four cases of pregnancy were terminated in mid-trimester. Autopsy was performed in four aborted fetuses, which revealed two cases of prune belly syndrome, one case of urethral atresia and one case of posterior urethral valve. Conclusions It will effectively detect and diagnose fetal megacystis during early pregnancy with standardized prenatal ultrasound. Fetal megacystis detected in early pregnancy has poor outcome.