无创性产前基因检测在唐氏高危人群中的应用(1)
【摘要】 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。
【关键词】 无创性基因检查; 唐氏筛查; 应用价值
中图分类号 R714.53 文献标识码 B 文章编号 1674-6805(2014)31-0019-02
, 百拇医药
Application of Non-invasive Prenatal Genetic Testing in Down’s High-risk Groups/JIA Hai-zhen.//Chinese and Foreign Medical Research，2014，12(31)：19-20
【Abstract】 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.
, 百拇医药
【Key words】 Non-invasive prenatal genetic testing; Down’s syndrome screening; Application value
First-author’s address：The First People’s Hospital of Datong City，Datong 037000，China
产前筛查多采用孕中期唐氏综合征筛查及少部分医院采用的孕早期唐氏综合征筛查，其筛查的准确率为70%～85%[1]。如何提高唐氏筛查的检出率，降低假阳性率，减少需要进行侵入性产前诊断操作患者的数目，从而减少由于侵入性操作带来的流产、感染的不良影响，缓解大部分唐氏高危孕妇的焦虑，给临床工作者带来方便，仍是临床工作者所关注的重点和难点。无创基因检测技术通过采集母体外周血提取胎儿游离DNA行胎儿染色体非整倍体无创性基因检查解决了这一难题[2-3]，无创性产前检查技术已成功检测到21、18、13号染色体，灵敏度分别是100%、100%、91.9%，特异度为99%以上，很好地解决了唐氏筛查假阳性率高的问题。笔者对本院唐氏高危人群进行了无创基因检测，以探讨无创性基因检查在唐氏高危人群中的应用价值，现报告如下。, 百拇医药(贾海珍)
【关键词】 无创性基因检查; 唐氏筛查; 应用价值
中图分类号 R714.53 文献标识码 B 文章编号 1674-6805(2014)31-0019-02
, 百拇医药
Application of Non-invasive Prenatal Genetic Testing in Down’s High-risk Groups/JIA Hai-zhen.//Chinese and Foreign Medical Research，2014，12(31)：19-20
【Abstract】 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.
, 百拇医药
【Key words】 Non-invasive prenatal genetic testing; Down’s syndrome screening; Application value
First-author’s address：The First People’s Hospital of Datong City，Datong 037000，China
产前筛查多采用孕中期唐氏综合征筛查及少部分医院采用的孕早期唐氏综合征筛查，其筛查的准确率为70%～85%[1]。如何提高唐氏筛查的检出率，降低假阳性率，减少需要进行侵入性产前诊断操作患者的数目，从而减少由于侵入性操作带来的流产、感染的不良影响，缓解大部分唐氏高危孕妇的焦虑，给临床工作者带来方便，仍是临床工作者所关注的重点和难点。无创基因检测技术通过采集母体外周血提取胎儿游离DNA行胎儿染色体非整倍体无创性基因检查解决了这一难题[2-3]，无创性产前检查技术已成功检测到21、18、13号染色体，灵敏度分别是100%、100%、91.9%，特异度为99%以上，很好地解决了唐氏筛查假阳性率高的问题。笔者对本院唐氏高危人群进行了无创基因检测，以探讨无创性基因检查在唐氏高危人群中的应用价值，现报告如下。, 百拇医药(贾海珍)