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胎儿肛门直肠畸形和阴道积水产前诊断的挑战——病例报告

Challenges in prenatal diagnosis of foetal anorectal malformation and hydrocolpos - Case report.

作者信息

Aziz Muhammad Alamsyah, Zahra Fatima, Razianti Zb Cut, Kharismawati Nuniek, Sutjighassani Tjut, Almira Nadia Larastri, Tjandraprawira Kevin Dominique

机构信息

Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Padjadjaran - Dr. Hasan Sadikin General Hospital, Bandung, Indonesia.

出版信息

Ann Med Surg (Lond). 2022 Nov 17;84:104949. doi: 10.1016/j.amsu.2022.104949. eCollection 2022 Dec.

DOI:10.1016/j.amsu.2022.104949
PMID:36582906
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9793165/
Abstract

INTRODUCTION

and importance: Foetal hydrocolpos and anorectal malformation are difficult to diagnose prenatally due to abundance of differential diagnoses. This case report presents the challenges of diagnosing such disorders.

CASE PRESENTATION

A G3P2A0 woman came at 32 weeks of pregnancy with a referral for foetal ovarian cyst. Ultrasound revealed a singleton breech pregnancy, estimated foetal weight 3528 g. A septate abdominal cyst measuring 11.31 × 7.17 cm and polyhydramnios were present. Elective caesarean section delivered a female baby weighing 2820 g and measuring 43 cm. Neonatal examination revealed a right lateral suprapubic mass and a rectovestibular fistula. A sinoscopy revealed a suspected hydrocolpos. An abdominal hydrocolpos drainage was performed; a patent urachus and normal bilateral adnexa were present.

CLINICAL DISCUSSION

Hydrocolpos is a rare congenital disorder due to distal obstruction of various etiologies. It may be mistaken with other pathologies, including fetal ovarian cysts. A genitourinary congenital abnormality may occur in conjunction with other abnormalities, including gastrointestinal tract anomalies. The presence of imperforate anus and/or fistula should alert the clinician of a possible association with VACTERL syndrome.

CONCLUSION

Hydrocolpos is a rare congenital genitourinary disorder with various differential diagnoses. Simultaneous presence of other abnormalities is likely, with possible association to other syndromes.

摘要

引言

及重要性:由于鉴别诊断众多,胎儿阴道积水和肛门直肠畸形在产前难以诊断。本病例报告展示了诊断此类疾病的挑战。

病例介绍

一名孕3产2流产0次的女性在妊娠32周时因胎儿卵巢囊肿转诊而来。超声检查显示为单胎臀位妊娠,估计胎儿体重3528克。存在一个大小为11.31×7.17厘米的纵隔性腹部囊肿及羊水过多。择期剖宫产娩出一名体重2820克、身长43厘米的女婴。新生儿检查发现右侧耻骨上肿块及直肠前庭瘘。鼻窦镜检查显示疑似阴道积水。进行了腹部阴道积水引流;发现脐尿管未闭及双侧附件正常。

临床讨论

阴道积水是一种罕见的先天性疾病,由多种病因导致远端梗阻。它可能被误诊为其他病症,包括胎儿卵巢囊肿。泌尿生殖系统先天性异常可能与其他异常同时出现,包括胃肠道畸形。肛门闭锁和/或瘘管的存在应提醒临床医生可能与VACTERL综合征有关联。

结论

阴道积水是一种罕见的先天性泌尿生殖系统疾病,有多种鉴别诊断。可能同时存在其他异常,并可能与其他综合征有关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5331/9793165/203af10b4d0a/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5331/9793165/9368677a673b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5331/9793165/da92c0a05324/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5331/9793165/7c9287f1ed6d/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5331/9793165/203af10b4d0a/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5331/9793165/9368677a673b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5331/9793165/da92c0a05324/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5331/9793165/7c9287f1ed6d/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5331/9793165/203af10b4d0a/gr4.jpg

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