Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Calgary, Alberta, Canada.
Department of Pediatrics, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada.
Am J Med Genet A. 2020 Nov;182(11):2594-2604. doi: 10.1002/ajmg.a.61834. Epub 2020 Sep 7.
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.
对加拿大阿尔伯塔省的哈特派兄弟会中特定孤立性非孟德尔遗传先天畸形的流行率进行了研究，以进一步检查该孤立社区的纵向数据，该社区最后一次报告是在 1985 年（Lowry 等人，1985 年），尽管有许多关于隐性疾病的出版物（Boycott 等人，2008 年；Triggs-Raine 等人，2016 年）。病例是从 1997 年至 2016 年的阿尔伯塔省先天畸形监测系统中确定的。由于我们的初步结果在哈特派兄弟会中显示出一些令人惊讶的发现，例如，脊柱裂、唇腭裂、腹裂和脐膨出的病例为零，而尿道下裂的病例明显过多，因此我们将研究扩展到了前几年（1980-1996 年）的特定畸形。在扩展的研究期间（1980-2016 年），哈特派人群中尿道下裂、法洛四联症和三尖瓣闭锁的患病率显著增加，尽管没有统计学意义，但唇腭裂、腹裂和脐膨出的病例为零。需要进一步研究以确定农村环境暴露、生活方式因素和特定多因素先天畸形的遗传关联的确切影响。
