| 摘要: |
| ［摘要］ 目的 探讨胎儿巨膀胱的产前诊断及临床评估分析。方法 收集2016-03～2019-06因胎儿巨膀胱就诊孕妇13例临床资料，通过超声诊断胎儿巨膀胱、遗传咨询、产前诊断等资料进行评估，对继续妊娠者每3～4周复查超声直至分娩。结果 10例在孕11～14周诊断，3例在孕15～39周诊断。8例行产前诊断，其中2例染色体核型异常，包括18-三体1例，13-三体1例;2例基因芯片发现致病意义不明片段。1例染色体核型及基因芯片正常者另行全外显子组基因测序找到ACTG2基因错义突变c.769C>T，为致病性变异。13例中超声提示双肾积水及输尿管扩张7例，余6例分别合并其他异常如颈部水囊瘤、中肠疝、全身皮肤水肿、脑积水、内脏外翻、单心室、一侧桡骨缺如等。13例巨膀胱胎儿中11例引产，其中5例随访至中孕直接引产，有3例行病理诊断，证实1例为梅干腹综合征，1例为尿道闭锁，1例为后尿道瓣膜。2例胎儿继续妊娠至出生，出生后超声和膀胱镜证实为后尿道瓣膜行后尿道瓣膜消融术，术后可正常排尿。结论 胎儿巨膀胱预后较差，孕期超声及产前诊断有助于明确病因，对临床病例分析及再生育指导有重要意义。 |
| 关键词: 巨膀胱 产前超声 产前诊断 临床分析 |
| DOI：10.3969/j.issn.1674-3806.2020.06.19 |
| 分类号:R 715.5 |
| 基金项目: |
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| Prenatal diagnosis and clinical analysis of 13 cases of fetal megabladder |
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YI Feng-mei, FENG Zong-hui, CHEN Yan, et al.
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Antenatal Diagnostic Centre, Huaihua Maternal and Child Health Care Hospital, Hunan 418000, China
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| Abstract: |
| ［Abstract］ Objective To explore the prenatal diagnosis and clinical evaluation of fetal megabladder. Methods From March 2016 to June 2019, 13 cases of pregnant women with fetal megabladder were collected for clinical data evaluation, including ultrasonic diagnosis of fetal megabladder, genetic consultation, prenatal diagnosis and so on. Ultrasound was reexamined every 3～4 weeks until delivery. Results Ten cases were diagnosed at 11～14 weeks of gestation and three cases at 15～39 weeks of gestation. Eight cases were performed prenatal diagnosis among whom 2 cases had chromosome karyotype abnormalities, including 1 case of trisomy 18 and 1 case of trisomy 13. The gene microarrays of 2 cases were found with unknown pathogenicity in some gene fragments. In 1 case with normal karyotype and gene microarray, the missense mutation of ACTG2 gene, c.769C>T, was found to be pathogenic variation by whole exome gene sequencing. Among the 13 cases, 7 cases were diagnosed with double hydronephrosis and ureteral dilatation by ultrasound, while the remaining 6 cases were associated with other abnormalities, such as cervical hydrocystic tumor, midgut hernia, systemic skin edema, hydrocephalus, evagination of viscera, single ventricle, and absence of radius on one side. Among the 13 fetuses with large bladders, labor was induced in 11 cases among whom 5 cases were followed up until receiving directly induced labor in the middle pregnancy, and pathological diagnosis was performed on 3 cases, including 1 case with prune-belly syndrome,1 case with urethral atresia and 1 case with posterior urethral valve. Two fetuses were retained in pregnancy by their mothers until they were born. After the birth of the 2 fetuses, ultrasound and cystoscopy confirmed that they had posterior urethral valves. After the posterior urethral valve ablation, they could urinate normally. Conclusion The prognosis of fetal megabladder is poor. Prenatal ultrasound and prenatal diagnosis are helpful to clarify the causes of fetal megabladder, which is of great significance for clinical case analysis and reproductive guidance. |
| Key words: Megabladder Prenatal ultrasound Prenatal diagnosis Clinical analysis |
