无创产前DNA检测在胎儿非整倍体疾病诊断的临床应用  

Clinical application of NIPT in the diagnosis of fetal aneuploid chromosome diseases

作　　者：毛锦江[1] 甘冰[1] 韦舟玲[1] MAO Jin-jiang;GAN Bing;WEI Zhou-ling(Department of Prenatal Diagnosis Center,the People′s Hospital of Guigang City,Guangxi 537100)

机构地区：[1]广西贵港市人民医院产前诊断中心,广西贵港537100

出　　处：《中国优生与遗传杂志》2020年第2期161-163,172,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨无创产前DNA检测(NIPT)在胎儿染色体非整倍体疾病诊断中的应用价值。方法收集2015年7月至2019年3月在贵港市人民医院产科接受外周血中游离胎儿DNA检测孕妇3367例,孕周为12-22+6w,按照年龄及血清学筛查等因素分为高龄组、唐氏高风险组和临界风险组及其他原因组,以羊水穿刺细胞核型分析为诊断"金标准"对无创产前DNA检测效果进行分析。结果无创产前DNA检测显示共34例胎儿染色体异常,检出率1.00%(34/3367),其中21例胎儿非整倍体异常:21-三体9例,18-三体3例,13-三体4例,性染色体5例,其他染色体异常13例。有17例无创产前DNA检测阳性的孕妇接受了羊水染色体核型分析,其中7例无创21-三体阳性中有6例染色体核型分析结果为47,XN,+21准确率为85.71%;2例无创18-三体阳性中有1例染色体核型分析结果为MOS,48,XN,+18,+mar,准确率为50%;3例无创13-三体阳性中有1例染色体核型分析结果为47,XN,+13,准确率为33.3%;5例无创性染色体阳性中5例均行染色体核型分析,结果为1例47,XXX,1例45,XO,2例47,XXY;1例染色体核型分析正常,足月分娩未发现染色体异常患儿,准确率为80%。结论无创产前DNA检测在胎儿染色体非整倍体疾病诊断中检测率高,特别是在高龄风险孕妇中准确率达到100%,具有高特异性、无创及快速检测等特点,但仍存在一定的假阳性率和费用较高等局限性。该技术对降低出生缺陷儿具有重要的临床应用价值,对提高人口素质有重大意义。Objective:To evaluate the clinial value of noninvasive prenatal testing(NIPT)in the diagnosis of fetal chromosome aneuploidy diseases.Methods:According to the factors such as age or serological screening,3367 cases of aged,high risk of Down′s screening,critical risk of Down′s screening and other causes group were selected in the obstetrics of Guigang people′s Hospital from July 2015 to March 2019,all of them were used non-invasive fetal chromosomal aneuploidy detection method of gene screning,and the gestational weeks was 12-22.6 weeks.The method of karyotype analysis of amniotic fluid cell was used as the diagnostic "gold standard" to analyze the effect of noninvasive prenatal testing.Result:34 cases of fetal chromosome abnormalities were detected by noninvasive prenatal testing,the detection rate was 1.00%(34/3367).Among them,21 cases were chromosome aneuploidy abnormal:9 cases of trisomy 21 syndrome,3 cases of trisomy 18 syndrome,4 cases of trisomy 13 syndrome and 5 cases of sex chromosome abnormal.13 cases were were found as other chromosome abnormalities.17 pregnant women were found with positive result of non-invasive fetal chromosomal aneuploidy detection accepted karyotype analysis of amniotic fluid cell.Among 7 pregnant women with trisomy 21 positive,6 pregnant women were 47,XN,21 by karyotype analysis,positive value was 85.71%.2 pregnant women with trisomy 18 positive,1 pregnant woman were MOS,48,XN,+18,+mar by karyotype analysis,the accuracy was 50%.3 pregnant women with trisomy 13 positive,1 pregnant woman were 47,XN,+13 by karyotype analysis,the accuracy was 33.3%.5 pregnant women of sex chromosome abnormal got karyotype analysis amniotic fluid cell,The results showed that:1 case:47,XXX,1 case:45,XO,2 cases:47,XXY;1 fetus with normal karyotype analysis and no chromosome abnormality was found in term delivery,the accuracy rate was 80%.Conclusion:The detection rate of NIPT was higher in the diagnosis of fetal chromosome aneuploidy,especially among the elder women,the accuracy rate was 100%.NIPT i

关 键 词：无创产前DNA检测 产前诊断 染色体非整倍体 

分 类 号：R714.55[医药卫生—妇产科学]