中外医学研究
中外醫學研究
중외의학연구
CHINESE AND FOREIGN MEDICAL RESEARCH
2014年
31期
19-20
,共2页
无创性基因检查%唐氏筛查%应用价值
無創性基因檢查%唐氏篩查%應用價值
무창성기인검사%당씨사사%응용개치
Non-invasive prenatal genetic testing%Down’s syndrome screening%Application value
目的：探讨无创性基因检查在唐氏高危人群中的应用价值。方法：在孕妇知情同意的基础上，选取670例具有唐氏高风险的单胎孕妇在孕16~24周采集孕妇的外周血提取胎儿游离DNA在深圳华大基因临床检验中心行胎儿染色体非整倍体无创性基因检测，并在孕妇分娩后由专业新生儿科医生对其外观及特征检查，以评估创性基因检查的准确性。结果：670例孕妇经无创基因检测，提示101例孕妇为非唐氏高危人群，结果为阴性，其中21三体综合征高风险者82例，18三体高风险者19例，并对101例唐氏高风险孕妇中电话机及上门随访，及出生后新生儿外观经专业新生儿科医师检查均为发现异常，灵敏度达100%。结论：无创性基因检查在唐氏高危人群中灵敏度高，误诊率低，有效地避免了不变要的侵入性产前诊断，对于唐氏高危人群筛查具有重要价值。
目的：探討無創性基因檢查在唐氏高危人群中的應用價值。方法：在孕婦知情同意的基礎上，選取670例具有唐氏高風險的單胎孕婦在孕16~24週採集孕婦的外週血提取胎兒遊離DNA在深圳華大基因臨床檢驗中心行胎兒染色體非整倍體無創性基因檢測，併在孕婦分娩後由專業新生兒科醫生對其外觀及特徵檢查，以評估創性基因檢查的準確性。結果：670例孕婦經無創基因檢測，提示101例孕婦為非唐氏高危人群，結果為陰性，其中21三體綜閤徵高風險者82例，18三體高風險者19例，併對101例唐氏高風險孕婦中電話機及上門隨訪，及齣生後新生兒外觀經專業新生兒科醫師檢查均為髮現異常，靈敏度達100%。結論：無創性基因檢查在唐氏高危人群中靈敏度高，誤診率低，有效地避免瞭不變要的侵入性產前診斷，對于唐氏高危人群篩查具有重要價值。
목적：탐토무창성기인검사재당씨고위인군중적응용개치。방법：재잉부지정동의적기출상，선취670례구유당씨고풍험적단태잉부재잉16~24주채집잉부적외주혈제취태인유리DNA재심수화대기인림상검험중심행태인염색체비정배체무창성기인검측，병재잉부분면후유전업신생인과의생대기외관급특정검사，이평고창성기인검사적준학성。결과：670례잉부경무창기인검측，제시101례잉부위비당씨고위인군，결과위음성，기중21삼체종합정고풍험자82례，18삼체고풍험자19례，병대101례당씨고풍험잉부중전화궤급상문수방，급출생후신생인외관경전업신생인과의사검사균위발현이상，령민도체100%。결론：무창성기인검사재당씨고위인군중령민도고，오진솔저，유효지피면료불변요적침입성산전진단，대우당씨고위인군사사구유중요개치。
Objective:To investigate the application value of non-invasive prenatal genetic testing in Down’s high-risk groups.Method:In pregnant women,on the basis of informed consent,selecting 670 cases of pregnant women with Down’s high-risk pregnant women from 16 to 24 weeks of pregnancy acquisition of peripheral blood extracting cell-free fetal DNA in Shenzhen Genomics Clinical Inspection Center Line of fetal chromosomal aneuploidy noninvasive genetic testing,and in pregnant women after childbirth by professional new pediatrician to check the appearance and characteristics,to evaluate the accuracy of the invasive genes to check.Result:670 cases of pregnant women by noninvasive genetic testing,prompt, 101 cases of pregnant women was a Down’s high-risk groups,the results were negative,including 21 trisomy syndrome,82 cases of high risk,and 18 trisomy syndrome(19 cases),and 101 cases of Down’s syndrome in the high-risk pregnant women follow-up telephone and door to door,and after the birth of newborns appearance by professional new pediatricians examination were found abnormal,the sensitivity was 100%.Conclusion:Non-invasive prenatal genetic testing the sensitivity to be high in the Down’s high-risk group,the error diagnostic rate is low,has effectively avoided the intrusional pre-natal diagnosis which wants invariably,sieves regarding the Down’s high-risk group looks up has the important value.
