无创产前基因检测在胎儿染色体非整倍体产前筛查中的应用价值

Application Value of Noninvasive Prenatal Genetic Testing in Prenatal Screening for Fetal Chromosomal Aneuploidy

目的:探讨无创产前基因检测在胎儿染色体非整倍体产前筛查中的应用价值。方法:选取2019年2-12月于淄博市精准基因检测关键技术重点实验室进行胎儿染色体非整倍体产前筛查的孕妇981例为研究对象。981例孕妇均进行无创产前基因检测和羊水穿刺,筛选出高风险孕妇,比较孕妇筛查结果。结果:无创检测与羊水穿刺检出21-三体高风险、18-三体高风险例数比较,差异无统计学意义(P>0.05)。无创检测检出性染色体异常高风险、13-三体高风险、其他染色体异常高风险例数高于羊水穿刺检测,差异有统计学意义(P<0.05)。无创检测结果与羊水穿刺检测结果一致性最高的是21-三体高风险。结论:无创产前基因检测在胎儿染色体非整倍体产前筛查中的应用效果显著,具有较高的确诊率。临床进行产前筛查时,应考虑先进行无创产前基因检测,再进行羊水穿刺,降低穿刺率,促使产前筛查顺利进行。

Objective:To explore the application value of noninvasive prenatal genetic testing in prenatal screening for fetal chromosomal aneuploidy.Methods:Nine hundred and eighty-one pregnant women who underwent prenatal screening for fetal chromosomal aneuploidy from February to December 2019 at the Zibo Key Laboratory of Precision Genetic Testing Key Technology were selected for the study.Nine hundred and eighty-one pregnant women underwent noninvasive prenatal genetic testing and amniocentesis to screen out high-risk pregnant women and compare the screening results of pregnant women.Results:There was no significant difference in the number of cases with 21-trisomy high risk and 18-trisomy high risk as detected by noninvasive testing(P>0.05).The numbers of cases with high risk of sex chromosome abnormality,high risk of 13-trisomy and high risk of other chromosome abnormalities as detected by noninvasive testing were higher than those detected by amniocentesis detection,and the difference was statistically significant(P<0.05).The highest concordance between the results of noninvasive testing and amniocentesis detection was found for 21-trisomy high risk.Conclusion:Noninvasive prenatal genetic testing in prenatal screening for fetal chromosomal aneuploidy has significant application effects and high confirmation rate.When performing prenatal screening in the clinic,noninvasive prenatal genetic testing followed by amniocentesis should be considered to reduce the rate of puncture and facilitate the smooth performance of prenatal screening.