胎儿游离DNA在单基因遗传病检测的研究进展

Advance in research on cell-free fetal DNA for monogenic disorders

单基因遗传病种类多而复杂,且有不断增长的趋势,总体发病率较高,临床表现各异,通过产前筛查和诊断,及早阻止致死或严重致残的单基因遗传病患儿的出生,是行之有效的防控策略。基于胎儿游离DNA的无创产前单基因遗传病检测技术已应用于临床,检测的疾病种类不断增加,技术也在不断取得突破,本文就该领域的研究进展做一综述。

Monogenic disorders are varied and complex.Its overall incidence is high and the clinical phenotypes differ greatly,causing disability,mental retardation or death.It′s an effective strategy to prevent the birth of newborns with monogenic disorders through prenatal screening and diagnosis.Cell-free fetal DNA based non-invasive prenatal testing for monogenic disorders has been applied in clinical practice.The range of diseases being tested is expanding,and the technology is continuously making breakthroughs.This article has provided a review over the research progress made in this field.