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Prevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016.
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-09-07 , DOI: 10.1002/ajmg.a.61834
R Brian Lowry 1, 2, 3, 4 , Tanya Bedard 1 , Susan Crawford 5 , Xin Grevers 1 , François P Bernier 2, 3, 4 , Mary Ann Thomas 1, 2, 3, 4
Affiliation  

A study of the prevalence rates for selected isolated non‐Mendelian congenital anomalies in the Hutterite Brethren of Alberta, Canada was undertaken to further examine longitudinal data in this isolated community that was last reported in 1985 (Lowry et al., 1985), although there are numerous publications on recessive disorders (Boycott et al., 2008; Triggs‐Raine et al., 2016). Cases were ascertained from the Alberta Congenital Anomaly Surveillance System for the years 1997–2016. Since our initial results showed some surprising findings in the Hutterite Brethren, such as zero cases of spina bifida, cleft lip and palate, gastroschisis, and omphalocele, and a significant excess of cases with hypospadias, we extended the study to prior years (1980–1996) for selected anomalies. For the extended study period (1980–2016), there was a significant increased prevalence of hypospadias, tetralogy of Fallot and tricuspid atresia in the Hutterite population, and although not statistically significant, zero cases of cleft lip with cleft palate, gastroschisis and omphalocele were confirmed. Further research is needed to determine the precise effects of rural environmental exposures, lifestyle factors, and genetic associations for selected multifactorial congenital anomalies.

中文翻译:

1980-2016年在艾伯塔省Hutterite人口中某些孤立的非孟德尔先天性畸形患病率研究。

在加拿大艾伯塔省的Hutterite兄弟会中,对某些孤立的非孟德尔先天性畸形的患病率进行了研究,以进一步检查该孤立社区的纵向数据,该数据最后一次发表于1985年(Lowry等,1985),尽管那里有很多关于隐性疾病的出版物(Boycott等,2008; Triggs-Raine等,2016)。从阿尔伯塔省先天性异常监视系统确定了1997-2016年的病例。由于我们的初步结果显示出在Hutterite弟兄院中发现了一些令人惊讶的发现,例如脊柱裂,唇裂和pa裂,胃chi裂和卵裂囊肿零例,以及尿道下裂的病例明显过多,因此我们将这项研究扩展到了前几年(1980年– (1996)。对于较长的研究期(1980-2016年),在Hutterite人群中,尿道下裂,法洛氏四联症和三尖瓣闭锁的患病率显着增加,尽管统计上无显着性,但确诊为唇cases裂,胃s裂和全卵裂的病例为零。需要进一步的研究来确定农村环境暴露,生活方式因素和选定的多因素先天性异常的遗传关联的精确影响。
更新日期:2020-10-17
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