囊性纤维化一级预防的国际经验(上)

N. Yu. Kashirskaya, N. V. Petrova, T. E. Gembitskaya, T. E. Ivashchenko, A. I. Khavkin, O. N. Nesteruk, E. K. Ginter, S. I. Kutsev, R. A. Zinchenko
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引用次数: 1

摘要

孕前基因筛查(在计划生育和健康婴儿出生阶段对个人进行基因检测)在预防遗传性疾病方面发挥着重要作用。这篇综述的重点是孕前预防囊性纤维化(CF),最常见的遗传性疾病之一的白种人。第一部分重点介绍了遗传性疾病(包括CF)筛查的一般原则、泛种族CF筛查的利弊,以及该方案的经济依据,利用国际研究和准则,如国际资料所示。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
International experience in the primary prevention of cystic fibrosis (part one)
Preconceptional genetic screening (genetic testing of individuals at the stages of family planning and birth of a healthy child) has an important place in the prevention of hereditary diseases. This review focuses on the preconceptional prevention of cystic fibrosis (CF), one of the most common hereditary diseases of the Caucasian race. The first part highlights the general principles of screening for hereditary diseases, including CF, the advantages and disadvantages of pan-ethnic screening for CF, and the economic rationale for the programme, using international studies and guidelines, as illustrated by international sources.
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