CAJ | 학술논문

地中海贫血是我国南方地区最常见的一种单基因遗传病，难以治愈且代价昂贵，通过穿刺术采集高风险胎儿的遗传物质进行产前基因诊断，防止重型患儿出生是国内外公认的首选措施。通过穿刺手术采集绒毛、羊水或脐带血而获取胎儿遗传物质进行产前诊断的有创性操作，可能造成胎儿损伤、流产或宫内感染等。自从母体血浆中发现存在胎儿DNA，以此胎儿遗传物质为检测靶标的无创产前诊断技术迅速发展。基于此类游离胎儿DNA的无创产前诊断更安全，且易于被受试者接受，也避免了获取胎儿遗传物质的创伤性操作导致的不必要风险。综述地中海贫血无创产前诊断的技术策略及其应用。
지중해빈혈시아국남방지구최상견적일충단기인유전병，난이치유차대개앙귀，통과천자술채집고풍험태인적유전물질진행산전기인진단，방지중형환인출생시국내외공인적수선조시。통과천자수술채집융모、양수혹제대혈이획취태인유전물질진행산전진단적유창성조작，가능조성태인손상、유산혹궁내감염등。자종모체혈장중발현존재태인DNA，이차태인유전물질위검측파표적무창산전진단기술신속발전。기우차류유리태인DNA적무창산전진단경안전，차역우피수시자접수，야피면료획취태인유전물질적창상성조작도치적불필요풍험。종술지중해빈혈무창산전진단적기술책략급기응용。
Thalassemiases are a group of the most common monogenic diseases in southern provinces of China. It is first choice method to prevent the birth of the affected children by prenatal genetic diagnosis in those high-risk couples through invasive sampling, which is widely accepted in the world. The risk of fetal injury, miscarriage or intrauterine infection may be caused by the invasive operation to collect villus, amniotic fluid, or cord blood for prenatal diagnosis. Since the cell-free fetal DNA (cff-DNA) was discovered in maternal plasma, the cff-DNA-based non-invasive prenatal diagnosis(NIPD) technology has been rapidly developed. The cff-DNA-based NIPD is safer and easily acceptable. In this review, noninvasive approaches in prenatal diagnosis of thalassemias were briefly discussed.