无创DNA检测在单项超声软指标异常中的应用价值

Application value of noninvasive DNA detection in abnormal soft index of single ultrasound

目的探讨无创DNA检测在单项超声软指标异常中的应用价值。方法选取2017年3月12日~2020年4月20日于菏泽市妇幼保健计划生育服务中心行无创DNA检测的600例单项超声软指标阳性孕妇作为研究对象,以引产或活产检查结果为确诊金标准,分析无创DNA筛查情况以及妊娠结局。结果600例单项超声软指标阳性孕妇,经无创DNA检查,发现高风险胎儿12例,经羊水染色体核型分析发现其中确诊为21-三体综合征8例,18-三体综合征1例,13-三体综合征1例,染色体数目异常1例,核型无异常1例。无创DNA产前检测技术的敏感性、特异度、准确性、误诊率、漏诊率分别为84.62%、99.83%、99.50%、0.17%、15.38%。经确诊为18-三体综合征、13-三体综合征、21-三体综合征核型异常者最终接受了引产。1例XYY染色体数目异常孕妇选择足月分娩。结论无创DNA技术能够尽早发现染色体异常胎儿,对胎儿筛查的准确率较高,利于降低流产风险,提高人口出生质量,值得推广。

Objective To explore the application value of noninvasive DNA detection in abnormal soft index of single ultrasound.Methods A total of 600 pregnant women with single ultrasound positive soft index in Heze Maternal and Child Health and Family Planning Service Center from March 12,2017 to April 20,2020 were selected as the research objects.The results of induced labor or live birth were used as the gold standard for diagnosis,and non-invasive DNA screening and pregnancy outcome were analyzed.Results Of the 600 pregnant women with positive ultrasonographic soft index,12 were found to be high risk fetuses by non-invasive DNA examination.By amniotic fluid karyotype analysis,8 cases were diagnosed with trisomy 21 syndrome,1 case with trisomy 18 syndrome,1 case with trisomy 13 syndrome,1 case with abnormal chromosome number and 1 case with no abnormal karyotype.The sensitivity,specificity,accuracy,misdiagnosis rate and missed diagnosis rate of noninvasive prenatal DNA testing were 84.62%,99.83%,99.50%,0.17%and 15.38%,respectively.Patients diagnosed with trisomy 18,trisomy 13,and trisomy 21 with abnormal karyotypes eventually underwent labor induction.One pregnant woman with abnormal number of XYY chromosome chose to deliver at term.Conclusion Non-invasive DNA technology can detect fetal chromosomal abnormalities as early as possible,and has a high accuracy in fetal screening,which is conducive to reducing the risk of abortion and improving the birth quality of population,it is worth popularizing.