Warne S, Chitty L S, Wilcox D T
Department of Paediatric Urology, Guy's Hospital & Great Ormond Street Children's Hospital, London, UK.
BJU Int. 2002 Jan;89(1):78-81.
To evaluate prenatal diagnosis in facilitating prenatal counselling and planning optimal perinatal care for persistent cloaca, a complex malformation with variable presentation and a difficult reconstructive challenge for the paediatric urologist and surgeon.
The prenatal records of six patients with a suspected prenatal diagnosis of cloacal anomaly, subsequently confirmed on delivery, were reviewed. All had serial prenatal ultrasonograms. Fetal medicine and paediatric surgical specialists were present for the scans and counselled the parents jointly.
The diagnosis was made at 19-33 weeks of gestation; all fetuses had a cystic structure arising from the pelvis and bilateral hydronephrosis, with a poorly visualized fetal bladder in most. Other prenatal features included transient fetal ascites, oligohydramnios, ambiguous genitalia and growth retardation. Female karyotype was confirmed in all cases by amniocentesis. Diagnosis was aided in two patients by fetoscopy and in another by magnetic resonance imaging.
Cloacal anomalies can be diagnosed prenatally and should be considered in any female fetus presenting with bilateral hydronephrosis, a poorly visualized bladder and a cystic lesion arising from the pelvis. Prenatal diagnosis allows time for parental counselling and planning of the delivery at a centre equipped with neonatal intensive-care and paediatric surgical facilities.
评估产前诊断对持续性泄殖腔畸形（一种表现多样且对小儿泌尿外科医生和外科医生来说重建难度较大的复杂畸形）的产前咨询及优化围产期护理规划的促进作用。
回顾了6例产前疑似泄殖腔畸形且产后确诊患者的产前记录。所有患者均接受了系列产前超声检查。胎儿医学和小儿外科专家参与了超声检查并共同为家长提供咨询。
诊断在妊娠19 - 33周时作出；所有胎儿均有一个源于骨盆的囊性结构及双侧肾积水，多数胎儿膀胱显示不清。其他产前特征包括短暂性胎儿腹水、羊水过少、生殖器模糊及生长受限。所有病例经羊膜腔穿刺均确诊为女性核型。2例患者通过胎儿镜检查辅助诊断，另1例通过磁共振成像辅助诊断。
泄殖腔畸形可在产前诊断，对于任何出现双侧肾积水、膀胱显示不清及源于骨盆的囊性病变的女性胎儿均应考虑该诊断。产前诊断可为家长咨询及在配备新生儿重症监护和小儿外科设施的中心进行分娩规划留出时间。
