Chen C P, Wang W, Lin S P, Sheu J C, Tsai J D
Department of Obstetrics and Gynecology, Mackay Memorial Hospital and National Yang-Ming University, Taipei, Taiwan.
Fetal Diagn Ther. 1998 Nov-Dec;13(6):348-51. doi: 10.1159/000020867.
We report the perinatal findings in a male fetus with congenital megacystis and anorectal malformations. A 17-year-old primipara was referred to our department at 13 weeks of gestation for management of a 4.6 x 3.8 cm massive intra-abdominal fetal mass consistent with megacystis. The fetal thorax was severely compressed. We used a 22-gauge needle to perform intrauterine fetal vesicocentesis, removing 30 ml of fetal urine, decreasing the fetal bladder diameter/crown-rump length ratio from 65.7 to 17%. Cytogenetic analysis revealed a 46, XY karyotype. Intermittent bladder aspiration was performed weekly from 13 to 20 weeks of gestation and every 2-3 weeks from 21 to 35 weeks of gestation for the purpose of decompression. Mild dilation of both renal pelves was noted beginning at 20 weeks of gestation, however, neither progression of hydronephrosis nor development of oligohydramnios was noted. At 36 weeks of gestation, a live male neonate was delivered with a normal phallus, duodenal atresia, mild congenital heart defects, a distended bladder, bilateral hydronephrosis, megaureters, imperforate anus with rectovesical fistula, cryptorchidism and bilateral vesicoureteric reflux. The postnatal renal function was normal. He underwent serial operations including colostomy, anoplasty with repair of rectovesical fistula, duodeno-duodenostomy, bilateral re-implantation of ureters, orchiopexy and reduction cystoplasty. At 20 months of age, the child had normal renal function. The intravenous pyelogram showed normal functional kidneys, moderate megaureters and moderate megacystis. He underwent clean intermittent catheterization for residual urine. The recurrent urinary tract infections were under control.
我们报告了一名患有先天性巨膀胱和肛门直肠畸形的男性胎儿的围产期检查结果。一名17岁初产妇在妊娠13周时因一个4.6×3.8厘米的巨大腹腔内胎儿肿块（与巨膀胱相符）被转诊至我科。胎儿胸部受到严重压迫。我们使用22号针头进行宫内胎儿膀胱穿刺术，抽出30毫升胎儿尿液，使胎儿膀胱直径/头臀长度比从65.7%降至17%。细胞遗传学分析显示核型为46,XY。为了减压，在妊娠13至20周期间每周进行间歇性膀胱抽吸，在妊娠21至35周期间每2至3周进行一次。妊娠20周时开始注意到双侧肾盂轻度扩张，然而，未发现肾积水进展或羊水过少情况。妊娠36周时，一名存活男婴出生，阴茎正常，有十二指肠闭锁、轻度先天性心脏缺陷、膀胱扩张、双侧肾积水、巨输尿管、肛门闭锁伴直肠膀胱瘘、隐睾症和双侧膀胱输尿管反流。出生后肾功能正常。他接受了一系列手术，包括结肠造口术、修复直肠膀胱瘘的肛门成形术、十二指肠十二指肠吻合术、双侧输尿管再植术、睾丸固定术和膀胱缩小成形术。在20个月大时，该儿童肾功能正常。静脉肾盂造影显示肾脏功能正常，输尿管中度扩张，膀胱中度增大。他接受了清洁间歇性导尿以处理残余尿液。复发性尿路感染得到控制。
