Descriptive epidemiology of isolated anal anomalies: A survey of 4.6 million births in Europe

Descriptive epidemiology of isolated anal anomalies: A survey of 4.6 million births in Europe
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DOI:
10.1002/ajmg.1532
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发表时间:
2001-10-15
期刊:
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子:
--
通讯作者:
Cuschieri, A
Cuschieri, A
中科院分区:
其他
文献类型:
--
作者:
Cuschieri, A

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在1980年至1994年期间,33个EUROCAT登记处记录的4,618,840例出生中,肛门异常的患病率为每10,000例出生4.05例。1846例病例中,单纯肛门异常672例(36.4%),合并其他异常1174例(63.6%)。本研究仅分析孤立的肛门异常:75.5%为闭锁,其中10.1%高于提肛肌水平,89.9%低于提肛肌水平。53%的上提肌闭锁和37%的下提肌闭锁发生瘘。其他肛门异常包括异位肛门(3.4%)、先天性肛瘘(14.7%)和持续性泄殖腔(0.9%)。无瘘肛闭锁以男性居多(肛上闭锁的男女M:F比为6.7,肛下闭锁的男女M:F比为2.3),但有瘘肛闭锁的性别差异不显著。异位肛门和先天性肛瘘以女性为主(M:F分别为0.11和0.36)。无瘘管的上睑闭锁(8.3%)和持续泄殖腔(11.1%)的胎儿死亡频率较高。持续泄殖腔的平均妊娠长度和平均出生体重减少,但在其他孤立肛门异常的正常范围内。35岁以上母亲无瘘的上睑闭锁、有瘘的上睑闭锁和先天性肛瘘的优势比(ORs)增加。30岁以下母亲无瘘管的上睑闭锁的ORs略有增加,持续性泄殖腔的ORs略有下降。在欧洲猫登记的肛门异常的患病率和分布有显著差异。结果表明,不同类型肛门异常存在流行病学差异,可能反映了不同的胚胎起源。(C) 2001 Wiley-Liss, Inc。
The prevalence of anal anomalies among 4,618,840 births recorded in 33 EUROCAT registries between 1980 and 1994 was 4.05 per 10,000 births. Of the 1,846 recorded cases, 672 (36.4%) were isolated anal anomalies while 1,174 (63.6%) occurred together with other anomalies. Only isolated anal anomalies were analyzed in this study: 75.5% were atresias, 10.1% of which were above and 89.9% were below the level of the levator ani muscle. Fistula occurred in 53% of supralevator and 37% of infralevator atresia. Other anal anomalies were ectopic anus (3.4%), congenital anal fistula (14.7%), and persistent cloaca (0.9%). There was a predominance of males in anal atresia without fistula (male to female (M:F) ratio was 6.7 for supralevator and 2.3 for infralevator atresia), but no significant sex difference in atresias with fistula. There was a predominance of females in ectopic anus and congenital anal fistula (M:F=0.11 and 0.36 respectively). High frequencies of fetal deaths were recorded in supralevator atresia without fistula (8.3%) and in persistent cloaca (11.1%). Mean gestational length and mean birth weights were reduced for persistent cloaca but were within normal limits for other isolated anal anomalies. Odds ratios (ORs) for mothers above 35 years were increased for supralevator atresia without fistula, supralevator atresia with fistula, and congenital anal fistula. ORs for mothers below 30 years were slightly increased for supralevator atresia without fistula and decreased for persistent cloaca. There were marked differences in prevalence and distribution of anal anomalies among the EUROCAT registries. The results indicated that there are epidemiological differences among the various types of anal anomalies which might reflect different embryological origins. (C) 2001 Wiley-Liss, Inc.