Tay‐Sachs disease (TSD) is a hereditary neurodegenerative condition inherited through an autosomal recessive pattern. The incidence and carrier frequency of infantile TSD were found to be increased among French Canadians in specific areas of the province of Quebec or calculated from New England populations with French‐Canadian heritage. No accurate infantile TSD carrier frequency for the whole French‐Canadian population in Quebec has been published. In this study, we estimate the incidence and carrier frequency of infantile TSD in the Quebec French‐Canadian population. The number of TSD cases was ascertained during the 1992–2015 period, as well as the number of births to mothers whose language of use is French. Seven cases of TSD have been diagnosed in Quebec during the period of ascertainment. This corresponds to an incidence of 1/218,144, which in turn corresponds to a carrier frequency of 1/234. In the same 24‐year period, there are two French‐Canadian couples who had a fetus prenatally diagnosed with TSD. If these cases are included, the incidence of TSD in the French‐Canadian population of Quebec is 1/169,668 and the carrier frequency 1/206. These findings can be used for genetic counseling and policy decisions regarding carrier screening for TSD in populations of French‐Canadian descent.

中文翻译：

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根据1992年至2015年这24年间的回顾性资料，魁北克法国加拿大人口中Tay-Sachs病的发病率和携带者频率。

Tay-Sachs病（TSD）是通过常染色体隐性遗传的遗传性神经退行性疾病。发现魁北克省特定地区的法裔加拿大人中婴儿TSD的发生率和携带者频率增加，或者根据具有法裔加拿大传统的新英格兰人口计算得出。还没有公布魁北克整个法国-加拿大人口的准确婴儿TSD载波频率。在这项研究中，我们估计了魁北克法国-加拿大人口中婴儿TSD的发生率和携带者频率。确定了1992年至2015年期间的TSD病例数，以及使用法语为法语的母亲的分娩数。在确定期间，魁北克已诊断出7例TSD。这对应于1 / 218,144的发生率，反过来对应于1/234的载波频率。在同一24年期间，有两对法裔加拿大夫妇的胎儿在出生前被诊断患有TSD。如果包括这些情况，则在魁北克的法裔加拿大人口中，TSD的发生率为1 / 169,668，载波频率为1/206。这些发现可用于有关法裔加拿大人TSD携带者筛查的遗传咨询和政策决策。