应用母血浆中胎儿游离DNA进行无创性产前诊断的临床分析

The Free Fetal DNA in Maternal Plasma was Used for Clinical Analysis of Noninvasive Prenatal Diagnosis

目的探究应用母血浆中胎儿游离DNA进行无创性产前诊断的临床价值情况。方法选择2017年9月至2019年9月来本院产前诊断中心接受产检的1708例孕妇为研究对象,对其开展游离DNA检测以及羊水染色体核型分析工作。结果在所有母血胎儿游离DNA测试结果中,共计28例染色体异常,风险率为1.64%。其中,2例染色体多态、8例18-三体高危、16例21-三体高危以及4例性染色体高危与最终羊水染色体核型分析结果相同。有2例经测序结果证实为47,某受试者通过羊水染色核型分析结果正常。对此次试验判定为低风险者进行妊娠结局随访,没有发现漏诊、误诊案例,准确率达到了99.99%。结论在受试者孕中期,为其开展无创性母血胎儿游离DNA检测,对于检出腹内胎儿染色体非整倍体情况结果可靠。但值得注意的是,其在测定染色体非正位体胎儿无创性检查方面有假阳性可能,因此还需要进一步完善有关试验方法,以全面提升检测精准率。

Objective To explore the clinical value of noninvasive prenatal diagnosis using fetal free DNA in maternal plasma.Methods From September 2017 to September 2019,1708 pregnant women who received prenatal examination in the antenatal diagnosis center of our hospital were selected as the research objects,and their free DNA detection and chromosome karyotype analysis of amniotic fluid were carried out.Analyze the results.Results A total of 28 cases of chromosomal abnormalities were included in the free DNA test of all maternal fetuses,with a risk rate of 1.64%.Among them,2 cases of chromosome polymorphism,8 cases of trisomy-18 high risk,16 cases of trisomy-21 high risk and 4 cases of sex chromosome high risk were the same as the final analysis results of chromosome karyotype of amniotic fluid.Two cases were confirmed as 47 by sequencing results,and the results of karyotype analysis by amniotic fluid staining in a subjects were normal.For those who were judged as low risk by this test,the pregnancy outcome follow-up was conducted,and no missed diagnosis or misdiagnosis cases were found,with an accuracy of 99.99%.Conclusion In the second trimester of pregnancy,free DNA test of non-invasive maternal fetal blood is reliable for the detection of intrauterine fetal chromosome aneuploidy.However,it is worth noting that it is a noninvasive test for the determination of chromosomal nonorthotopic fetuses.There may be false positives.Therefore,relevant experimental methods need to be further improved to comprehensively improve the accuracy of detection.