Bischoff Andrea, Levitt Marc A, Lim Foong Yen, Guimarães Carolina, Peña Alberto
Colorectal Center for Children, Division of Pediatric Surgery, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, ML 2023, Cincinnati, OH 45229, USA.
Pediatr Surg Int. 2010 Nov;26(11):1071-5. doi: 10.1007/s00383-010-2685-3.
Prenatal diagnosis of anorectal malformations currently occurs in 0-15.9% of screened cases. In cloacas, these numbers are unknown. We speculate that some images from prenatal ultrasound studies may suggest the diagnosis of cloaca, but are not recognized because of a lack of suspicion for this diagnosis.
A retrospective review of the medical records of 489 patients born with cloaca was performed; 95 of them had prenatal ultrasound reports that represent the material analyzed for this study. A literature review was performed, finding 31 publications, with 68 cloaca patients detected by prenatal images. The abnormal findings of our patients were compared with those described in the literature to determine the most common abnormal prenatal images found in patients with cloaca.
The 95 ultrasound reports found in our patients described 270 abnormalities, the most frequent were: abdominal/pelvic cystic/mass (39), hydronephrosis (36), oligohydramnios (23), distended bowel/bowel obstruction (19), ascites (15), 2 vessel cord (14), dilated bladder (14), dilated ureter (14), polyhydramnios (10), echogenic bowel (8), multicystic kidney (8), "ambiguous genitalia" (7), hydrops fetalis (7), hydrocolpos (4), absent kidney (3), abnormal spine (3), and anorectal atresia (3). In spite of these findings, the radiologists who interpreted the studies only suspected a cloaca in 6 cases (6%). The literature review showed 212 abnormalities in 68 demonstrated cloaca patients. The most frequent were: abdominal/pelvic cystic/mass (46), hydronephrosis (44), ascites (21), oligohydramnios (20), distended bowel (11), multicystic dysplastic kidney (7), ambiguous genitalia (6), non-visualization of the bladder (6), two-vessel cord (5), dilated bladder (5), intraabdominal calcification (4), polyhydramnios (4), enterolithiasis (4), hydrometrocolpos (3), and dilated ureter (3).
We conclude that it is possible to suspect the diagnosis of cloaca, prenatally, more frequently than what currently occurs, looking at the same images but with an increased index of suspicion for cystic abdominal masses and a combination of gastrointestinal and urological abnormalities.
目前，在接受筛查的病例中，肛门直肠畸形的产前诊断率为0 - 15.9%。对于泄殖腔畸形，这一数字尚不清楚。我们推测，产前超声检查的一些图像可能提示泄殖腔畸形的诊断，但由于对此诊断缺乏怀疑而未被识别。
对489例患有泄殖腔畸形的患者的病历进行回顾性研究；其中95例有产前超声报告，这些报告构成了本研究分析的材料。进行文献综述，发现31篇出版物，其中68例泄殖腔畸形患者通过产前图像被检测出来。将我们患者的异常发现与文献中描述的进行比较，以确定泄殖腔畸形患者中最常见的产前异常图像。
我们患者的95份超声报告描述了270处异常，最常见的有：腹部/盆腔囊性肿物（39处）、肾积水（36处）、羊水过少（23处）、肠扩张/肠梗阻（19处）、腹水（15处）、双脐动脉（14处）、膀胱扩张（14处）、输尿管扩张（14处）、羊水过多（10处）、肠回声增强（8处）、多囊肾（8处）、“生殖器模糊”（7处）、胎儿水肿（7处）、阴道积水（4处）、肾缺如（3处）、脊柱异常（3处）以及肛门直肠闭锁（3处）。尽管有这些发现，但解读这些检查的放射科医生仅在6例（6%）中怀疑有泄殖腔畸形。文献综述显示，68例已证实患有泄殖腔畸形的患者中有212处异常。最常见的有：腹部/盆腔囊性肿物（46处）、肾积水（44处）、腹水（21处）、羊水过少（20处）、肠扩张（11处）、多囊性发育不良肾（7处）、生殖器模糊（6处）、膀胱未显示（6处）、双脐动脉（5处）、膀胱扩张（5处）、腹腔内钙化（4处）、羊水过多（4处）、肠石症（4处）、子宫阴道积水（3处）以及输尿管扩张（3处）。
我们得出结论，通过对相同图像进行观察，但提高对腹部囊性肿物以及胃肠道和泌尿系统异常组合的怀疑指数，有可能比目前更频繁地在产前怀疑泄殖腔畸形的诊断。
