基于胎儿游离DNA和高通量测序的地中海贫血无创产前检测的研究进展

(1.广西医科大学第一附属医院儿科,广西 南宁 530021; 2.广西医科大学地中海贫血防治研究所,广西 南宁 530021)

地中海贫血; 高通量测序; 胎儿游离DNA; 产前检测; 无创

Research progresses in non-invasive prenatal testing of thalassemia based on cell-free fetal DNA and high throughput sequencing
JIA Wenguang1, CHEN Ping2*

(1.Department of Pediatrics,The First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China; 2.Thalassemia Research Institute,Guangxi Medical University,Nanning 530021,China)

DOI: 10.6043/j.issn.0438-0479.201905035

备注

地中海贫血是由于珠蛋白基因缺陷导致珠蛋白链合成障碍而引起的遗传性溶血性疾病.重型地中海贫血是流行区域出生缺陷的主要病因,已成为影响社会和谐发展的公共卫生问题.产前诊断是避免重型地中海贫血胎儿出生的唯一有效途径,通过筛查流行区域地中海贫血基因携带者,对可能生育重型患儿的高危夫妇实施基因诊断和胎儿产前基因诊断,可达到干预的目的 .目前国内外对地中海贫血主要采用有创产前诊断技术,但取材不可避免会对母体或胎儿造成伤害,因此安全有效的无创产前诊断方法和技术一直是遗传性疾病产前诊断的方向和目标.本文综述基于孕妇外周血游离胎儿DNA的无创产前诊断应用和基于高通量测序的无创产前检测技术的最新进展,并展望其发展方向.

Thalassemia is an inherited hemolytic disease caused by deficiency or defect in the globin genes leading to a disorder in the synthesis of globin chains.Severe thalassemia seriously endangers people's health and is the main cause of birth defects in the epidemic area.It has become a public health problem affecting social harmony and development.Prenatal diagnosis of the fetus is the only effective way to avoid a fetus with severe thalassemia.By screening the thalassemia gene carriers in the epidemic area,genetic diagnosis and fetal prenatal genetic diagnosis of high-risk couples who may produce children with severe thalassemia achieve the purpose of intervention.At present,prenatal diagnosis methods for thalassemia are mainly invasive techniques,however,these fetal materials are inevitably harmful to the mother or fetus.Therefore,safe and effective non-invasive prenatal diagnostic methods and techniques have always been the direction and goal of prenatal diagnosis of hereditary diseases.In this article, we review the latest progresses in non-invasive prenatal diagnosis application based on cell-free fetal DNA in maternal peripheral blood,as well as non-invasive testing techniques based on high throughput sequencing,and predict its future development.