Dorjey Yeshey
Phuentsholing General Hospital Chukha Bhutan.
Clin Case Rep. 2023 Mar 14;11(3):e7072. doi: 10.1002/ccr3.7072. eCollection 2023 Mar.
Cloacal exstrophy is a rare and complex ventral abdominal wall defect. Prenatal diagnosis is possible with the use of detailed ultrasound scanning. Prenatal diagnosis of an anomalous fetus helps the parents and their families in making informed decisions. This write-up is to report a case of cloacal exstrophy diagnosed during the prenatal period using an ultrasound scan. The pregnant mother presented at 35 weeks of gestation underwent a detailed ultrasound scanning and note the findings; a large defect on the ventral surface of the anterior abdominal wall extending from the umbilicus to the inferior pelvis, with a large mass protruding through the defect, umbilical cord arising from the proximal part of the mass, with another tubular mass protruding from the inferior aspect of the larger mass giving an appearance of "elephant trunk," absent urinary bladder, absent anal dimple, and scrotum was seen inferior to the mass but failed to appreciate the phallus. Both kidneys were normal, and there was no spinal defect. In addition, pubic bones were widely separated, and there was splaying of the iliac bone. Based on the ultrasound scan findings, a prenatal diagnosis of cloacal exstrophy was made. The pregnant mother and their families were counseled about the anomalous fetus, and they decided to continue the pregnancy. At birth, the abnormalities present in the baby were consistent with the prenatal ultrasound scan findings. On postnatal day 5, the baby underwent a complete primary surgical repair of the defect which comprised of closure of the abdominal wall defect, repair of bladder defect, pelvic osteotomies, and creation of a colostomy. The abnormalities of cloacal exstrophy detected by the ultrasound scan during the prenatal diagnosis period were consistent with the abnormalities detected at birth. This concludes that an ultrasound scan is a reliable tool to diagnose cloacal exstrophy during the prenatal period.
泄殖腔外翻是一种罕见且复杂的腹前壁缺损。通过详细的超声扫描可进行产前诊断。对异常胎儿的产前诊断有助于父母及其家人做出明智的决定。本文报告一例通过超声扫描在产前诊断出泄殖腔外翻的病例。怀孕母亲在妊娠35周时前来接受详细超声扫描并记录检查结果；腹前壁腹侧面有一个大的缺损，从脐部延伸至下腹部，有一个大肿物从缺损处突出，脐带起自肿物近端，另一个管状肿物从较大肿物下方突出，呈“象鼻”样外观，膀胱缺如，肛门窝缺如，肿物下方可见阴囊，但未见到阴茎。双肾正常，无脊柱缺损。此外，耻骨分离，髂骨呈扇形展开。根据超声扫描结果，做出了泄殖腔外翻的产前诊断。向怀孕母亲及其家人咨询了关于异常胎儿的情况，他们决定继续妊娠。出生时，婴儿的异常情况与产前超声扫描结果一致。出生后第5天，婴儿接受了缺损的完全一期手术修复，包括关闭腹壁缺损、修复膀胱缺损、骨盆截骨术以及造瘘术。产前诊断期间超声扫描检测到的泄殖腔外翻异常情况与出生时检测到的异常情况一致。这表明超声扫描是产前诊断泄殖腔外翻的可靠工具。
