无创DNA产前检测在诊断胎儿染色体非整倍体疾病中的应用

目的探讨新一代测序技术的无创DNA产前检测在诊断胎儿染色体非整倍体疾病中的应用价值。方法 2012年8月1日至2013年12月31日在辽宁省大连市妇幼保健院接受孕妇外周血中游离胎儿DNA检测者2548例,均为单胎,妊娠12周-26周,按照孕妇年龄、血清学筛查结果及超声检测结果分为唐氏综合征筛查（唐筛）高危组、高龄组（孕产期年龄超过35周岁）、B超检测异常组和其他原因组,共计4组,由北京贝瑞和康生物技术有限公司和湖南家辉遗传专科医院合作开展的＂大规模基于新一代测序技术的新型无创DNA产前检测＂对孕妇外周血中游离胎儿DNA进行序列分析,对检测结果阳性者进行羊水穿刺或脐血穿刺及胎儿染色体核型分析;对检测结果阴性者行电话随访其胎儿出生后情况。结果 ①4组孕妇共计2548例均成功完成游离胎儿DNA检测,检测结果为阳性者共39例,包括21三体18例、18三体7例、13三体2例、性染色体异常12例。其中唐筛高危组检出21三体5例、18三体1例、13三体0例、性染色体异常3例;高龄组检出21三体3例、18三体3例、13三体0例、性染色体异常5例;B超检测异常组检出21三体9例、18三体2例、13三体0例、性染色体异常2例;其他原因组检出21三体1例、18三体1例、13三体2例、性染色体异常2例;②孕妇游离胎儿DNA检测结果异常的39例孕妇中,32例进行了羊水穿刺或脐血穿刺及染色体核型分析。18例21三体检测阳性者中,13例进行了羊水穿刺或脐血穿刺,其中12例结果与无创DNA吻合,1例不吻合,5例拒绝羊水穿刺或脐血穿刺而直接引产,经随访胎儿均有异常。结果检出率100%,准确率92.3%。7例18三体检测阳性者中,有6例进行了羊水穿刺或脐血穿刺,其中5例结果与无创DNA吻合,1例不吻合,1例拒绝羊水穿刺或脐血穿刺而直接引产,经随访胎儿存在多处异常。结果检出率100%,准确率83.3%。2例13三体检?

The application on fetal chromosomal aneuploidy disease by the non-invasive prenatal diagnosis

Objective：To explore the value of a Massively Parallel Genomic Sequencing Technology,a new type of noninvasive prenatal diagnosis was applied on fetal chromosomal aneuploidy disease. Method：2548 singleton pregnant women with gestational age among from 12-26 weeks tested for free fetal DNA in peripheral blood,of whom 529 had high risk in Down′s syndrome biochemical screening,758 more than 35 years old.449 were shown fetal abnormalities by ultrasound and 812 for other reasons.Amniotic fluid puncture and fetal karyotype analysis were carried out for positive on the test results,telephone followup after fetus birth for the negative test result.Results：①39 out of 2548 cases were positive,including 18 cases of trisomy 21,7 cases of trisomy 18,2 cases trisomy 13 and 12 cases were abnormal in sex chromosome. The Down′s syndrome screening high-risk group detected 9 positive cases;elderly group detected 11 positive cases;ultrasound detected 13 positive cases;other reasons detected 6 positive cases;②Abnormal 32 cases did amniotic fluid puncture or umbilical cord puncture and chromosome karyotype analysis,18 cases of trisomy 21 were detected that 13 cases did the puncture,including 12 cases matched the result,1 case didn′t match,5 cases refused the puncture and did the induction of labor,the follow-up of fetal abnormalities. The detection rate was 100%,accuracy rate 92.3%. 7 cases of trisomy 18 were detected that 6 cases did the puncture,including 5 cases matched the result,1 case didn′t match,1 cases refused the puncture and did the induction of labor,followed that the existence of multiple abnormal fetus. The detection rate was 100%,accuracy rate 83.3%. 2 cases of trisomy 13 were detected that 2 cases did the amniotic fluid puncture,but the results were not consistent with the noninvasive DNA,fetuses were normal. 12 cases of sex chromosome test positive,12 cases did the puncture,including 4 cases matched the result,8 cases did not match,the detection rate was 100%,accurate rate 33.3%. ③2509 cases of cel