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目的:分析无创DNA产前检测(NIPT)技术在胎儿染色体非整倍体检测中的临床应用。方法:2014年1月—2015年6月来我院进行产前筛查的孕妇共307名,其中进行无创产前检测孕妇162名,血清学筛查、影像学检查显示为常染色体非整倍体临界风险(1/1 000≤唐氏综合征风险值<1/270,1/1 000≤18三体综合征风险值<1/350)82例为高危组,高龄孕妇(≥35周岁)组46例,其他组34例(包括未在血清学产前筛查孕周内做检查者、未在常规血清学诊断孕周内做检查者、有介入性产前诊断禁忌症者、自愿筛查者)。孕妇平均年龄(29±3)岁,平均孕周(20.2±6)周,均为单胎,无妊娠并发症。所有孕妇均签署知情同意书。结果:经二代测序技术检测,生物信息学方法分析,血清学筛查高危82例,其中1例提示18号染色体三倍体,3例提示21号染色体三倍体。高龄孕妇(≥35周岁)46例,其中2例提示21号染色体三倍体,1例提示性染色体异常。其他34例中,1例提示21号染色体三倍体。8例孕妇无创DNA检测异常结果与羊水染色体核型分析结果比较:羊水染色体核型分析47,XN,+18,1例;XN,+21,6例;47,XXX 1例,准确率100%。结论:无创DNA产前检测(NIPT)检测能够提高产前诊断效率,对21-三体、18-三体综合征的检测的特异性、敏感性与染色体核型分析结果一致,有较高的临床应用价值。
Objective: To analyze the clinical application of noninvasive DNA prenatal detection (NIPT) in the detection of fetal aneuploidy. METHODS: A total of 307 pregnant women who had come to our hospital for prenatal screening from January 2014 to June 2015 were enrolled. Among them, 162 were pregnant women without prenatal testing. Serological screening and imaging examination showed autosomal aneuploidy Critical risk (1/1 000≤ Down syndrome risk <1 / 270,1 / 1 000≤18 trisomy syndrome risk <1/350) 82 cases of high risk group, elderly pregnant women (≥35 years of age) 46 patients in the control group, and 34 patients in the other groups (including those who did not perform the screening during the prenatal screening pregnancy serology, those who did not perform the routine serology diagnosis in the gestational weeks, those who had contraindicated prenatal diagnosis contraindications, voluntary screening Checker). The average age of pregnant women (29 ± 3) years, the average gestational age (20.2 ± 6) weeks, are singleton, no pregnancy complications. All pregnant women signed informed consent form. Results: The second generation of sequencing technology, bioinformatics analysis, serological screening of high-risk 82 cases, of which 1 prompted chromosome 18 triploid, 3 cases prompted chromosome 21 triploid. In the elderly pregnant women (≥35 years of age) 46 cases, of which 2 cases prompted chromosome 21 triploid, 1 case of prompted chromosomal abnormalities. In the other 34 cases, 1 case suggested chromosome 21 triploid. 8 cases of pregnant women with noninvasive DNA abnormalities results and amniotic fluid karyotype analysis results: amniotic fluid chromosome karyotype analysis 47, XN, + 18,1 cases; XN, + 21,6 cases; 47, XXX 1 case, the accuracy rate of 100% . Conclusion: The prenatal diagnosis of non-invasive DNA prenatal testing (NIPT) can improve the efficiency of prenatal diagnosis of 21-trisomy, 18-trisomy syndrome, the specificity of the sensitivity and chromosomal karyotype analysis results are consistent, high Clinical application value.