Register Based Study of Bladder Exstrophy-Epispadias Complex: Prevalence, Associated Anomalies, Prenatal Diagnosis and Survival
Register Based Study of Bladder Exstrophy-Epispadias Complex: Prevalence, Associated Anomalies, Prenatal Diagnosis and Survival
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DOI：
10.1016/j.juro.2011.07.022
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发表时间：
2011-11-01
影响因子：
6.6
通讯作者：
Rankin, J.
中科院分区：
文献类型：
--
作者：
Jayachandran, D.;Bythell, M.;Rankin, J.
目的：我们描述膀胱外翻-尿道上裂综合征患者的患病率、相关异常、产前诊断和生存率。材料和方法：数据取自北方先天性异常调查，针对 1985 年至 2008 年期间分娩的患者。这项调查收集了居住在英格兰北部（诺森伯兰郡、北坎布里亚郡、泰恩郡和威尔达勒姆、达灵顿和蒂赛德）。结果：从 824,368 名登记出生的婴儿中总共发现了 43 例病例，总患病率为每 100,000 人 5.22 例（95% CI 3.77-7.03）。除1例泄殖腔外翻双胎外，42例为单胎妊娠。总共分离出 29 例（69%），13 例（31%）伴有其他异常，其中 11 例（26%）为其他结构异常，2 例（5%）为染色体异常。所有单身病例的男女比例为 2.2:1，孤立病例的男女比例为 1.4:1。膀胱外翻-尿道上裂复杂单例病例的总患病率为每 100,000 名登记出生的 5.10 例 (95% CI 3.67-6.89)，总体活产患病率为每 100,000 例活产 4.63 例 (95% CI 3.28-6.36)。膀胱外翻-尿道上裂综合征孤立病例的总患病率为每 100,000 名新生儿 3.52 例 (95% CI 2.365.05)，活产患病率为每 100,000 例 3.29 例 (95% CI 2.17-4.79)。产前诊断准确率较低，常规超声产前诊断4例（10%）（膀胱外翻3例，泄殖腔外翻1例）。所有婴儿 1 岁时的总生存率为 95%。结论：这项基于人群的研究表明，患病率与其他研究相似，产前诊断率低，生存率高。
Purpose: We describe the prevalence, associated anomalies, prenatal diagnosis and survival of patients with bladder exstrophy-epispadias complex.Materials and Methods: Data were extracted from the Northern Congenital Abnormality Survey for patients delivered during 1985 to 2008. This survey collects data on congenital anomalies in fetuses, stillbirths and live-born infants of mothers residing in Northern England (Northumberland, North Cumbria, Tyne and Wear Durham, Darlington and Teesside).Results: A total of 43 cases were identified from 824,368 registered births for a total prevalence of 5.22 per 100,000 (95% CI 3.77-7.03). Excluding 1 twin with cloacal exstrophy, 42 cases occurred in singleton pregnancies. A total of 29 cases (69%) were isolated and 13 (31%) were associated with other anomalies, of which 11 (26%) were other structural and 2 (5%) were chromosomal. Male-to-female ratio was 2.2: 1 for all singleton cases and 1.4: 1 for isolated cases. Total prevalence of bladder exstrophy-epispadias complex singleton cases was 5.10 per 100,000 registered births (95% CI 3.67-6.89) and overall live birth prevalence was 4.63 per 100,000 live births (95% CI 3.28-6.36). Total prevalence of isolated cases of bladder exstrophy-epispadias complex was 3.52 per 100,000 births (95% CI 2.365.05) and live birth prevalence was 3.29 per 100,000 (95% CI 2.17-4.79). Accuracy of prenatal diagnosis was low, with 4 cases (10%) being detected prenatally by routine ultrasound (bladder exstrophy in 3, cloacal exstrophy in 1). Overall survival of all infants at 1 year was 95%.Conclusions: This population based study demonstrates a prevalence rate similar to other studies, a low prenatal diagnosis rate and high survival.