摘要
目的探讨无创产前检测(non-invasive prenatal testing,NIPT)在不同年龄孕妇超声筛查高风险中检测染色体异常的价值。方法纳入本院2021年1月至2022年1月建档的孕中期超声检查提示有阳性指标孕妇135例,均行无创DNA检测,并随访至分娩结束,对比不同超声检查异常数目和异常类型胎儿的无创产前DNA检测结果。分析不同年龄孕妇的上述数值的差异,Logistic回归分析无创DNA检测对不同年龄孕妇的诊断价值。结果135例中,孕中期超声检查共提示有187项异常,其中19例合并3项以上异常,33例合并2项异常,83例1项异常。合并多项超声阳性指标的胎儿,无创产前DNA检测提示高风险的概率明显增加,且在高龄孕妇中比例更高。超声提示颈项透明层厚度(nuchal translucency,NT)增厚胎儿,进一步行NIPT检测提示高风险的概率最高,达10.77%;其次为鼻骨显示不清胎儿,NIPT高风险率为9.52%。结论NIPT检测的风险值常随着超声检查异常数目增多而增加,特别是高龄孕妇,该类人群可能存在染色体异常,应进行进一步行羊水穿刺检查。
Objective To explore the value of noninvasive prenatal testing(NIPT)in detecting chromosomal abnormalities in high-risk ultrasound screening of pregnant women of different ages.Methods A total of 135 pregnant women with positive indicators were included in the second-trimester ultrasound examinations that were established in our hospital from January 2021 to January 2022.Non-invasive DNA detection was performed,and they were followed up until the end of delivery.The number and types of abnormalities in different ultrasound examinations were compared.Results of non-invasive prenatal DNA testing of the fetus.The differences in the above values of pregnant women of different ages were analyzed,and the diagnostic value of non-invasive DNA testing for pregnant women of different ages was analyzed by logistic regression.Results Among the 135 cases,there were 187 abnormalities in second trimester ultrasonography,of which 19cases had more than three abnormalities,33 cases had two abnormalities,and 83 cases had one abnormality.For fetuses with multiple positive ultrasound indicators,the probability of non-invasive prenatal DNA testing to indicate high risk is significantly increased,and the proportion is higher in older pregnant women.Ultrasound showed that the fetus with nuchal translucency(NT)thickening,further NIPT test showed the highest probability of high risk,reaching 10.77%,followed by the fetus with unclear nasal bone,and the high-risk rate of NIPT was 9.52%.Conclusion The risk value of NIPT detection often increases with the number of abnormal ultrasound examinations,especially in elderly pregnant women,who may have chromosomal abnormalities and should undergo further amniocentesis.
作者
吴梓瑛
黄美珍
Wu Ziying(Huang Meizhen;The People’s Hospital of Huadu,Guangzhou 510800,Guangdong,China)
出处
《中国产前诊断杂志（电子版）》
2022年第2期63-67,共5页
Chinese Journal of Prenatal Diagnosis(Electronic Version)
关键词
无创产前检测
年龄
超声
染色体异常
Non-invasive prenatal testing
Age
Ultrasound
Chromosomal abnormalities
