Perinatal findings in a male fetus with congenital megacystis and anorectal malformations.

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.