无创产前基因检测用于胎儿染色体非整倍体筛查的价值  

Application value of non-invasive prenatal genetic testing in screening for fetal chromosome aneuploidy

作　　者：郭凤莲 张蕊 李雅格 Guo Fenglian;Zhang Rui;Li Yage(Zhoukou Maternal and Child Health Hospital,Zhoukou 466000,China)

机构地区：[1]周口市妇幼保健院,周口466000

出　　处：《中国实用医刊》2024年第9期73-76,共4页Chinese Journal of Practical Medicine

摘　　要：目的分析无创产前基因检测用于胎儿染色体非整倍体筛查的价值。方法前瞻性研究。抽取2023年1月至2023年12月在周口市妇幼保健院接受无创产前基因检测的孕妇2000例,分别按照孕周(孕早期、孕中期、孕晚期)、申请无创产前基因检测理由(高龄、血清学筛查结果异常、B超软指标异常和自愿筛查)进行分组,对无创产前基因检测阳性检出率进行分析。阳性检出者均接受羊膜腔穿刺检查,并以穿刺结果为标准,分析无创产前基因检测对胎儿染色体非整倍体的阳性预测值。结果孕早期组、孕中期组、孕晚期组孕妇无创产前基因检测的阳性检出率分别为1.97%(8/407)、1.40%(15/1069)、1.72%(9/524)。高龄组、血清学筛查结果异常组、B超软指标异常组、自愿筛查组孕妇无创产前基因检测的阳性检出率分别为1.72%(12/698)、1.76%(10/569)、1.93%(5/259)、1.05%(5/474)。羊膜腔穿刺检查结果显示有21例胎儿的染色体存在异常,以穿刺结果为标准,无创产前基因检测的阳性预测值为65.63%(21/32),其中21-三体综合征的阳性预测比例为5/6,13-三体综合征的阳性预测比例为1/3,18-三体综合征的阳性预测比例为3/4,性染色体异常的阳性预测比例为9/16,染色体微缺失微重复阳性预测比例为3/3。结论无创产前基因检测用于胎儿染色体非整倍体筛查的效能较高,临床上对于阳性检出者,应建议进行羊膜腔穿刺检查。Objective To analyze the application value of non-invasive prenatal genetic testing in prenatal screening for fetal chromosome aneuploidy.Methods Prospective study was adopted in this study.A total of 2000 pregnant women who underwent non-invasive prenatal genetic testing in Zhoukou Maternal and Child Health Hospital from January 2023 to December 2023 were selected,and they were grouped according to gestational weeks(early pregnancy,mid pregnancy,late pregnancy),reasons for applying for non-invasive prenatal genetic testing(advanced maternal age,abnormal serology screening results,abnormal ultrasound soft indicators,and voluntary screening).The positive rate of the selected pregnant women by non-invasive prenatal generic testing was analyzed.All positive cases were subjected to amniocentesis,and the results of amniocentesis were used as the standard to analyze the positive predictive value of non-invasive prenatal genetic testing for fetal chromosome aneuploidy.Results The positive detection rates of non-invasive prenatal genetic testing in the early pregnancy group,the mid pregnancy group,and the late pregnancy group were 1.97%(8/407),1.40%(15/1069),and 1.72%(9/524),respectively.The positive detection rates of non-invasive prenatal genetic testing in the elderly group,the abnormal serological screening result group,the abnormal ultrasound soft indicators group,and the voluntary screening group were 1.72%(12/698),1.76%(10/569),1.93%(5/259),and 1.05%(5/474),respectively.The results of amniocentesis showed chromosome abnormalities in 21 fetuses;taking on the puncture results,the positive predictive value of non-invasive prenatal genetic testing was 65.63%(21/32),the positive predictive ratio for trisomy 21 syndrome was 5/6,for trisomy 13 syndrome it was 1/3,for trisomy 18 syndrome it was 3/4,for sex chromosome abnormalities it was 9/16,for chromosome microdeletions and microduplications it was 3/3.Conclusions Non-invasive prenatal genetic testing is highly effective for screening for fetal chromosomal aneuploidy.In

关 键 词：染色体异常 染色体非整倍体 无创产前基因检测 胎儿 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]