基于胎儿游离DNA的地中海贫血无创产前诊断的研究进展

Advances in non-invasive prenatal diagnosis of thalassemia based on cell-free fetal DNA

重型地中海贫血(地贫)目前尚无有效治疗措施,通过产前诊断阻止重型患儿出生是国内外公认的首选预防措施。目前,地贫的产前诊断仍依赖于有创的方法,即绒毛活检、羊水穿刺和脐静脉血穿刺,存在一定的宫内感染和流产风险,安全、无创、快速和准确的地贫产前诊断方法对高发区意义重大。孕妇外周血胎儿游离DNA(cffDNA)的发现,下一代测序(NGS)的快速发展与应用,使无创产前DNA检测(NIPT)成为现实。目前,利用cffDNA检测胎儿13、18和21号染色体非整倍体的NIPT技术已经成熟应用于临床,但地贫的NIPT仍处于研究探索阶段。文章主要基于cffDNA和NGS的地贫NIPT研究进展进行综述。

Currently,there is no effective treatment option for Thalassemia Major(thalassemia).Preventing the birth of children with severe thalassemia through prenatal diagnosis is the preferred preventive measure recognized at home and abroad.At present,prenatal diagnosis of thalassemia still depends on invasive methods,namely,chorionic villus biopsy,amniocentesis and umbilical vein blood puncture.There is a certain risk of intrauterine infection and miscarriage.Safe,non-invasive,fast and accurate prenatal diagnosis of thalassemia is of great significance in high-incidence areas.The discovery of cell-free fetal DNA(cffDNA)in maternal peripheral blood and the rapid development and application of next generation sequencing(NGS)make non-invasive prenatal testing(NIPT)a reality.At present,the NIPT technology that uses cffDNA to detect aneuploidy of fetal chromosomes 13,18 and 21 has been maturely applied in clinical practice,but the NIPT of thalassemia is still in the research and exploration stage.This article mainly reviews the research progress of the NIPT of thalassemia based on cffDNA and NGS.