无创产前基因检测对胎儿性染色体异常的筛查效果分析

Analysis of the Effect of Noninvasive Prenatal Gene Detection in Screening Fetal Sex Chromosome Abnormalities

目的探讨在胎儿性染色体异常筛查过程中,采用无创产前基因检测的价值。方法选取2021年1月—2022年5月青岛大学附属泰安市中心医院收治的1000例孕妇进行本次研究,实施血清学检查与无创产前基因检测,为明确各个方案的筛查价值,以羊水细胞培养和核型结果为金标准,就筛查结果进行分析。结果1000例产妇中通过唐氏筛查确定异常人群51例,该异常人群通过无创产前基因检测进一步判定异常人数为30例,金标准确定异常30例。羊水细胞培养和核型结果显示45,X阳性14例、47,XXX阳性6例、47,XXY阳性6例、47,XYY阳性4例;无创产前基因检测结果显示真阳性检出率为83.33%,其中45,X阳性12例、47,XXX阳性5例、47,XXY阳性5例、47,XYY阳性3例,与金标准符合率为80.39%。无创产前基因检测灵敏度83.33%、特异度76.19%、准确度80.39%,一致性(Kappa值)为0.941(P<0.05)。结论无创产前基因检测在胎儿性染色体异常筛查中准确率较高,能够确保胎儿性染色体异常检出率得到提升,在减少性染色体异常胎儿出生率的同时,减少羊穿等有创性产前检查。

Objective To explore the value of noninvasive prenatal gene detection in the screening of fetal sex chromosome abnormalities.Methods A total of 1000 pregnant women admitted to Tai´an Central Hospital Affiliated to Qingdao University from January 2021 to May 2022 were selected for this study.They were given serological examination and non-invasive prenatal gene testing.In order to clarify the screening value of each scheme,amniotic fluid cell culture and karyotype results were used as the gold standard to analyze the screening results.Results Among 1000 pregnant women,51 cases of abnormal population were determined by Down´s screening.The number of abnormal population was further determined to be 30 cases by non-invasive prenatal genetic testing,and 30 cases were determined to be abnormal by the gold standard.The results of amniotic fluid cell culture and karyotype showed that 45,X positive in 14 cases,47,XXX positive in 6 cases,47,XXY positive in 6 cases,47,XYY positive in 4 cases;The results of noninvasive prenatal gene detection showed that the true positive detection rate was 83.33%,including 12 cases of 45,X positive,47,5 cases of XXX positive,47,5 cases of XXY positive,47,3 cases of XYY positive,and the coincidence rate with the gold standard was 80.39%.The sensitivity of noninvasive prenatal gene detection was 83.33%,the specificity was 76.19%,the accuracy was 80.39%,and the consistency(Kappa value)was 0.941(P<0.05).Conclusion The accuracy of non-invasive prenatal gene detection in fetal sex chromosome abnormality screening is high,which can ensure that the detection rate of fetal sex chromosome abnormalities is improved,reduce the birth rate of fetus with sex chromosome abnormalities,and reduce the invasive prenatal examination such as sheep wear.