CAJ | 학술논문

目的：探讨孕妇中期唐氏筛查联合外周血游离胎儿DNA检测的临床意义。方法：用时间分辨免疫荧光法对15~20+6周的孕妇进行中期血清学筛查，并对筛查为高危的孕妇采用大规模平行测序法对母体外周血中游离胎儿DNA进行染色体非整倍体检测。结果：产前血清筛查10065例，筛查出高危孕妇752例，其中678例高危孕妇进行了游离胎儿DNA检测，共检出10例染色体数目异常，结构异常4例，共14例异常，对14例异常孕妇提供了免费的羊水染色体核型分析，其余664例回访，其中2例结果不一致；游离胎儿DNA检测总准确率为99.7%(676/678)。结论：唐氏筛查和外周血游离胎儿DNA检测联合检测，可预防和减少唐氏儿及其他缺陷儿的出生，对提高国民素质十分重要。
목적：탐토잉부중기당씨사사연합외주혈유리태인DNA검측적림상의의。방법：용시간분변면역형광법대15~20+6주적잉부진행중기혈청학사사，병대사사위고위적잉부채용대규모평행측서법대모체외주혈중유리태인DNA진행염색체비정배체검측。결과：산전혈청사사10065례，사사출고위잉부752례，기중678례고위잉부진행료유리태인DNA검측，공검출10례염색체수목이상，결구이상4례，공14례이상，대14례이상잉부제공료면비적양수염색체핵형분석，기여664례회방，기중2례결과불일치；유리태인DNA검측총준학솔위99.7%(676/678)。결론：당씨사사화외주혈유리태인DNA검측연합검측，가예방화감소당씨인급기타결함인적출생，대제고국민소질십분중요。
Objective:To investigate the clinical significance of combined detection of the interim of Down’s screening in pregnant women and blood free fetal DNA screening. Method:Pregnant women in 15-20+6 weeks were test of Down’s syndrome by time resolved immunofluorescence. High-risk groups were further tested of free fetal DNA from mother’s blood by gene sequencing.Result:10 065 pregnant women received Down’s screening,and 752 cases were estimated to be high-risk.At last 678 cases received the fetal DNA gene sequencing.14 cases were confirm chromosome abnormalities,including 10 number abnormal and 4 cases of structure abnormalities.The total 14 cases were detected of chromosome analysis from amniotic fluid cells,the other 676 cases were followed up,the results showed that two cases were not according with the NDA investigation,the total accuracy rate was 99.7%(676/678).Conclusion:Combined detection of Down’s screening and mother blood free fetal DNA test is effective in reducing the birth defects.