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产前囊性纤维化携带者筛查——是否进行、何时进行以及如何进行?

Antenatal cystic fibrosis carrier screening--whether, when and how?

作者信息

Miedzybrodzka Z, Haites N, Hall M, Templeton A, Marteau T, Dean J, Kelly K, Russell I

机构信息

University of Aberdeen, Department of Medical Genetics, Foresterhill, UK.

出版信息

Paediatr Perinat Epidemiol. 1993 Oct;7(4):368-75. doi: 10.1111/j.1365-3016.1993.tb00416.x.

Abstract

Population screening for carriers of cystic fibrosis (CF) is now possible. Such screening may have both advantages and disadvantages and hence must be evaluated before it becomes routine practice. As the potential benefits of screening are wide and the drawbacks may include psychological effects, a combination of approaches is needed to assess screening thoroughly instead of only counting numbers of terminations or carrier tests. We describe the issues concerned and our methodology for a rigorous evaluation of population antenatal carrier screening for cystic fibrosis.

摘要

现在可以对囊性纤维化(CF)携带者进行人群筛查。这种筛查可能既有优点也有缺点,因此在成为常规做法之前必须进行评估。由于筛查的潜在益处广泛,而缺点可能包括心理影响,因此需要结合多种方法来全面评估筛查,而不仅仅是统计终止妊娠或携带者检测的数量。我们描述了相关问题以及我们对囊性纤维化人群产前携带者筛查进行严格评估的方法。

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