产前诊断泄殖腔畸形的围生期评估及治疗——附2例报道及文献回顾

Evaluation and treatment of prenatal persistent cloaca:two case reports and literature review

目的分析总结泄殖腔畸形的产前诊断、围生期评估及治疗经验。方法收集2017年1月至2019年12月广州市妇女儿童医疗中心收治的2例产前诊断为泄殖腔畸形并完成根治手术患儿的临床资料,对病例特点进行讨论分析,并通过PubMed、万方数据库进行文献检索,总结泄殖腔畸形产前诊断及新生儿期序贯治疗的经验。病例1产前初始异常表现为肠管扩张、肠腔内回声增强,孕晚期发现外生殖器外观异常及双侧阴道少量积液,诊断为泄殖腔畸形,出生后先后行横结肠造瘘口、根治手术及造瘘口闭合术。病例2产前初始异常表现为大量阴道积液,左侧肾积水伴输尿管全程扩张,诊断为泄殖腔畸形,出生后先后行横结肠造瘘口、阴道造瘘口及膀胱造瘘口术,进而行根治手术及造瘘口闭合术。2例患儿均预后良好。结果检索文献共38篇,其中中文文献1篇,英文文献37篇。回顾资料完整的13例产前发现异常的泄殖腔畸形胎儿的文献,发现阴道积液是最常见的产前征象,3例因胎儿期尿潴留需要产前干预,仅1例因胎儿严重畸形建议引产,9例患儿生后存活。结论泄殖腔畸形的产前诊断虽然有长足进步但仍然存在一定困难,胎儿与新生儿“无缝衔接”的序贯化治疗将成为积极改变泄殖腔畸形治疗及预后的一种新模式。

Objective To review the prenatal diagnosis and treatments of 2 girls of persistent cloaca malformation and summarize the experiences of prenatal diagnosis,evaluations and neonatal treatments.Methods From January 2017 to December 2019,two girls with cloacal malformation underwent radical surgery.Their clinical characteristics were analyzed by retrieving their medical records and imaging data.The initial abnormalities of case 1 were intestinal dilation and enhanced echo of meconium.Abnormal appearance of external genitalia and minimal bilateral vaginal fluid were found during the third trimester.Cloaca malformation was diagnosed.Transverse colonostomy,radical surgery and stoma closure were performed in sequence.The prenatal abnormality of case 2 was massive hydrocolpos and left hydronephrosis accompanied by ureteral dilatation.She was diagnosed as cloaca malformation.Transverse colostomy,vaginostomy and cystostomy were performed successively postnatally and then radical surgery and stoma closure completed.Both girls had a good prognosis.Results A total of 38 papers were retrieved,including 1 in Chinese and 37 in English.Complete reports were reviewed for 13 fetuses with cloaca deformities before delivery.And hydrocolpos was the most common prenatal sign.Three fetuses required prenatal interventions due to urinary retention.And 9 fetuses survived after birth.Conclusion Although prenatal diagnosis of cloaca malformations has made great advances,there are still some difficulties.The sequential treatment of“seamless integration”between fetus and newborn shall become a new model for actively changing the treatments and prognosis of cloaca malformations.