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[意大利南部杰拉市常住居民出生时先天性异常患病率的更新情况]

[Updating of the prevalence of congenital anomalies among resident births in the Municipality of Gela (Southern Italy)].

作者信息

Bianchi Fabrizio, Bianca Sebastiano, Barone Chiara, Pierini Anna

机构信息

Unità di epidemiologia ambientale e registri di patologia, Istituto di fisiologia clinica, Consiglio nazionale delle ricerche, Pisa.

出版信息

Epidemiol Prev. 2014 May-Aug;38(3-4):219-26.

Abstract

OBJECTIVES

to update the prevalence of congenital anomalies in the Municipality of Gela (Southern Italy), in particular to verify whether the previously reported high prevalence of hypospadias was confirmed.

DESIGN

study on prevalence at birth of congenital anomalies by retrieving information from multiple sources.

SETTING AND PARTICIPANTS

in the Municipality of Gela it is localized a site of national interest for environmental remediation (SIN). Data of residents born in the Municipality of Gela in 2003-2008 were recovered from hospital records, local and regional archives, Sicilian registry of congenital malformations database, hospital admissions at medical and surgical hospitals in Catania. For comparison, European (EUROCAT), Tuscany and Emilia-Romagna registries data have been used.

MAIN OUTCOME MEASURES

congenital anomalies, divided into confirmed anomalies, minor anomalies, uncertain conditions, classified by large groups and specific anomalies.

RESULTS

statistically significant excesses emerge with respect to the references for genital anomalies, and for urinary and total anomalies including not-specified diagnoses. For cardiovascular and limb anomalies (including not-specified clubfoot), the excess is significant only in comparison with Italian figures. The prevalence of hypospadias of 46.7/10,000 shows statistically significant excesses compared to European and Italian reference values, of 1.7 and 2.3 times, respectively.

CONCLUSION

retrospective recovery of data produced incompleteness of cases and poor diagnostic definition. The epidemiological picture is more reliable for congenital anomalies less susceptible to termination of pregnancy. The study confirms a high prevalence of hypospadias, estimated between the value observed in the previous twelve-year study and the one reported for the area of Priolo-Augusta-Melilli for the years 1990-1998; and higher than those reported in literature, with sporadic exceptions. The observed data, as well as the documented presence in the environment and in biological fluids of dangerous pollutants in periconceptional exposures, support a plausibility of multifactorial aetiology for hypospadias. The environmental risk should not be neglected in the decisions of primary prevention.

摘要

目的

更新杰拉市(意大利南部)先天性异常的患病率,特别是核实之前报道的尿道下裂高患病率是否得到证实。

设计

通过从多个来源检索信息对先天性异常的出生患病率进行研究。

地点与参与者

在杰拉市有一个国家环境修复重点区域(SIN)。2003年至2008年在杰拉市出生的居民数据从医院记录、地方和区域档案、西西里先天性畸形登记数据库、卡塔尼亚内科和外科医院的住院记录中获取。为作比较,使用了欧洲(EUROCAT)、托斯卡纳和艾米利亚 - 罗马涅登记处的数据。

主要观察指标

先天性异常,分为确诊异常、轻微异常、不确定情况,按大类和特定异常进行分类。

结果

与参考数据相比,生殖器异常、泌尿系统及包括未明确诊断在内的总异常出现具有统计学意义的超额情况。对于心血管和肢体异常(包括未明确的马蹄内翻足),仅与意大利数据相比时超额情况具有统计学意义。尿道下裂患病率为46.7/10000,与欧洲和意大利参考值相比分别有1.7倍和2.3倍的统计学显著超额情况。

结论

数据的回顾性收集导致病例不完整且诊断定义不佳。对于较不易因妊娠终止而受影响的先天性异常,流行病学情况更可靠。该研究证实了尿道下裂的高患病率,估计介于前一个十二年研究中观察到的值与1990 - 未提及年份(原文此处有误,推测为1998年)普里奥洛 - 奥古斯塔 - 梅利利地区报道的值之间;且高于文献报道值,仅有零星例外。观察到的数据,以及受孕前暴露中环境和生物体液中存在危险污染物的记录,支持了尿道下裂多因素病因的合理性。在一级预防决策中不应忽视环境风险。 (注:原文中“1990 - 1998; and higher than those reported in literature, with sporadic exceptions.”这里的“未提及年份”推测为1998年,因为前面提到了1990,按正常逻辑推测后面是1998,否则句子逻辑不完整)

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