Departments of Ultrasound, First Affiliated Hospital of Xiamen University, Xiamen, China.
Department of Ultrasound, Fujian Provincial Maternity and Children's Hospital of Fujian Medical University, Fuzhou, China.
J Ultrasound Med. 2019 Jun;38(6):1501-1509. doi: 10.1002/jum.14836. Epub 2018 Oct 2.
To investigate the applicability and value of ultrasound (US) in the diagnosis of anorectal atresia.
Between January 2008 and January 2016, we prospectively evaluated 63,101 fetuses (gestational age, 20-38 weeks), including low- and high-risk populations using 2-dimensional US scans. An abnormal imaging finding was defined as an anal canal diameter of less than the 95% confidence interval (small anal canal) of the normal range or the absence of an anal canal and rectum. Imaging findings were considered normal on detection of an anal canal with a normal width and the absence of abnormalities. Prenatal imaging findings were confirmed by a postnatal or postmortem examination.
Among the investigated fetuses, 28 showed evidence of anorectal atresia on US scans, and 22 of those with anorectal atresia had additional anomalies. Six cases of isolated anorectal atresia were successfully detected during the preclusive prenatal US scans. Four cases of a low imperforate anus (including 2 covered anuses) yielded false-negative results, indicating a diagnostic rate of 87.5% (28 of 32). The normal appearance of the fetal rectum and anal canal ruled out anorectal atresia in 30 fetuses with a dilated colon. Additionally, there were 3 false-positive cases, in which a narrow anal canal was observed.
Identifying the abnormal appearance or absence of the fetal anal canal and rectum on preclusive US anomaly scans is useful for prenatal diagnosis or exclusion of anorectal atresia, which may help improve the detection of isolated anorectal atresia. Furthermore, a combined evaluation of the longitudinal and axial appearances of the fetal anal canal and rectum can improve diagnostic accuracy.
探讨超声（US）在肛门直肠闭锁诊断中的适用性和价值。
2008 年 1 月至 2016 年 1 月，我们前瞻性评估了 63101 例胎儿（孕龄 20-38 周），包括低危和高危人群，使用二维 US 扫描。异常影像学表现定义为肛管直径小于正常范围的 95%置信区间（小肛管）或肛管和直肠缺失。在检测到正常宽度的肛管且无异常的情况下，认为影像学表现正常。产前影像学发现通过产后或死后检查证实。
在所研究的胎儿中，28 例 US 扫描显示有肛门直肠闭锁的证据，其中 22 例有肛门直肠闭锁的胎儿有其他异常。6 例孤立性肛门直肠闭锁在产前超声检查中被成功检出。4 例低位无肛（包括 2 例覆盖性肛门）结果为假阴性，诊断率为 87.5%（28/32）。30 例结肠扩张的胎儿直肠和肛管正常外观排除了肛门直肠闭锁。此外，还有 3 例假阳性病例，观察到狭窄的肛管。
在产前 US 畸形扫描中识别胎儿肛管和直肠的异常外观或缺失对于肛门直肠闭锁的产前诊断或排除有用，这可能有助于提高孤立性肛门直肠闭锁的检出率。此外，对胎儿肛管和直肠的纵向和轴向外观进行综合评估可以提高诊断准确性。
