Calzolari Elisa, Bianchi Fabrizio, Rubini Michele, Ritvanen Annukka, Neville Amanda J
Genetic Medicine Section, Department of Experimental Medicine and Diagnostics, University of Ferrara, Ferrara, Italy.
Cleft Palate Craniofac J. 2004 May;41(3):244-9. doi: 10.1597/02-074.1.
To describe the epidemiology of cleft palate (CP) in Europe.
A descriptive epidemiological study on 3852 cases of CP, identified (1980 through 1996) from more than 6 million births from the EUROCAT network of 30 registers in 16 European countries.
Significant differences in prevalence in Europe between registries and within countries were observed. A total of 2112 (54.8%) CP cases occurred as isolated, 694 (18.0%) were associated with other defects such as multiple congenital anomalies, and 1046 (27.2%) were in recognized conditions. The study confirmed the tendency toward female prevalence (sex ratio [SR] = 0.83), particularly among isolated cases (SR = 0.78) even if SR inversion is reported in some registries. A specific association with neural tube defects (NTDs) in some registers is reported.
The differences identified in Europe (prevalence, sex, associated anomalies) can be only partially explained by methodological reasons because a common methodology was shared among all registries for case ascertainment and collection, and CP is an easy detectable condition with few induced abortions. The complex model of inheritance and the frequently conflicting results in different populations on the role of genes that constitute risk factors suggest the presence of real biological differences. The association of CP/NTD in an area with a high prevalence of NTDs can identify a group of conditions that can be considered etiologically homogeneous. The epidemiological evaluation can guide genetic research to specify the role of etiological factors in each different population
描述欧洲腭裂（CP）的流行病学情况。
一项描述性流行病学研究，对1980年至1996年期间从欧洲16个国家30个登记处的EUROCAT网络中600多万例出生记录中识别出的3852例CP病例进行研究。
观察到欧洲各登记处之间以及各国国内在患病率上存在显著差异。总共2112例（54.8%）CP病例为孤立性发病，694例（18.0%）与其他缺陷如多发先天性异常相关，1046例（27.2%）存在于已知病症中。该研究证实了女性患病率较高的趋势（性别比[SR]=0.83），尤其是在孤立性病例中（SR=0.78），尽管在一些登记处报告了性别比倒置的情况。在一些登记处报告了与神经管缺陷（NTDs）的特定关联。
在欧洲发现的差异（患病率、性别、相关异常）只能部分由方法学原因解释，因为所有登记处对于病例确定和收集采用了共同的方法，而且CP是一种易于检测的病症，引产情况较少。复杂的遗传模式以及不同人群中关于构成风险因素的基因作用的结果经常相互矛盾，这表明存在真正的生物学差异。在NTDs高发地区CP与NTDs的关联可以识别出一组可被认为病因学上同质的病症。流行病学评估可以指导基因研究，以明确病因学因素在每个不同人群中的作用。
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