无创产前检测在产妇染色体缺失中的应用效果及核型研究价值

Application effect and karyotype of noninvasive prenatal testing in maternal chromosome deletion

目的探讨无创产前检测在产妇染色体缺失中的应用效果及核型研究的价值。方法选取2017年2月-2018年1月我院收治的产妇200例,按照随机数字表达法分为研究组(n=100)和对照组(n=100),对照组应用羊水细胞染色体核型分析的血清学产前筛查高风险,研究组则在对照组基础上给予无创胎儿染色体非整倍体基因检测手段进一步进行高风险筛查,并对两组阳性检查结果的孕妇给予羊水穿刺细胞染色体核型分析。结果研究组无创产前基因检测与染色体核型结果诊断符合率较高(P>0.05),对照组血清学产前高风险检测与染色体核型结果诊断符合率较低(P<0.05),研究组血清学产前高风险检测检出率结果显著低于无创产前基因检测结果(P<0.05)。结论在孕妇高风险产前检测的过程当中,无创产前检测的在胎儿染色体缺失中的检测准确率及核型研究的价值理想,临床上应当进一步推广应用。

Objective:To explore the application effect of noninvasive prenatal testing in maternal chromosome deletion and the value of karyotype study. Method:Selection in February 2017-January 2018 our hospital 200 cases of maternal,according to the random number expression can be divided into research group(n=100)and the control group(n=100),the control application of amniotic fluid cells chromosome karyotype analysis of serology prenatal screening high risk,the team is in the control group on the basis of given noninvasive fetal chromosomal aneuploidy gene detection means for screening high risk further,and the two groups of pregnant women to give positive reviews amniotic fluid puncture cells chromosome karyotype analysis. Results:The team noninvasive prenatal gene diagnosis coincidence rate is higher with chromosome karyotype results(P>0.05),the control group serology prenatal high-risk detection with chromosome karyotype results diagnosis coincidence rate is lower(P<0.05),the team serological antenatal high-risk test detection results significantly lower than that of noninvasive prenatal gene test results(P<0.05). Conclusion:In the process of high-risk prenatal testing for pregnant women,the accuracy of noninvasive prenatal testing in fetal chromosome deletion and the value of karyotype research should be further popularized.