摘要
目的探讨血清甲胎蛋白异质体L2(AFP-L2)、无创产前基因检测(NIPT)技术联合超声胎儿后颈部透明层的厚度(NT)值对24~28^(+6)胎儿染色体异常筛查的价值。方法选取2021年9月至2022年9月于医院接受早期孕检确认染色体异常的孕妇120例纳入染色体异常组,选取同期接受正常孕检且已完成胎儿染色体异常筛查的孕妇120名作为健康志愿者。对所有受检孕妇分别采取超声检查NT、血清AFP-L2检查、NIPT技术单独检测及三者联合检测。比较4种检测方式的阳性、阴性检出情况,以及4种检测方式对提高胎儿染色体异常筛查的诊断效能。结果与健康志愿者比较,染色体异常组胎儿AFP-L2检查水平较低,NT厚度较高(P<0.05)。与超声检查比较,血清AFP-L2检查、NIPT检查、联合检查阳性预测值、阴性预测值较高(P<0.05);与血清AFP-12检查比较,超声检查阳性预测值、阴性预测值较低,NIPT检查、联合检查阳性预测值、阴性预测值较高;与NIPT检查比较,血清AFP-12检查、超声检查阳性预测值、阴性预测值较低,联合检查阳性预测值、阴性预测值较高(P<0.05)。与超声检查比较,血清AFP-L2检查、NIPT检查、联合检查灵敏度、特异度和准确率较高(P<0.05);NIPT检查技术对于性染色体异常的总阳性预测值(PPV)为92.24%;对于54,X(含嵌合体)、54,XXX、54,XXY、54,XYY、性染色体微缺失微重复的PPV分别为49.05%、79.15%、85.55%、43.19%、57.69%。与血清AFP-12检查比较,超声检查灵敏度、特异度和准确率较低,NIPT检查、联合检查灵敏度、特异度和准确率较高,与NIPT检查比较,超声检查、血清AFP-12检查灵敏度、特异度和准确率较低,联合检查灵敏度、特异度和准确率较高(P<0.05)。结论通过超声检查、血清AFP-L2检查、NIPT技术对胎儿染色体不正常进行筛查,提高对胎儿染色体异常筛查的准确率,降低误诊率,具有良好的诊断效能。超声、血清AFP-L2检查
Objective To explore the application value of serum AFP-L2 and NIPT technology combined with ultrasound NT value for the screening of 24~28^(+6) fetuses.Methods A total of 120 pregnant women who received early pregnancy examination to confirm chromosomal abnormalities in hospital from September 2021 to September 2022 were selected as the abnormal chromosome group,and 120 pregnant women who underwent normal pregnancy examination in hospital and had completed screening for fetal chromosomal abnormalities were selected as healthy volunteers for case-control study.The ultrasound examination NT,serum AFP-L2 and NIPT technology were tested together for all the pregnant women.AFP-L2 levels were detected by enzyme-linked free adsorption assay.Statistical comparison of positive and negative detection of the four detection methods improves the diagnostic efficiency of screening for the four fetal chromosome abnormalities.Results With lower AFP-L2 levels and higher NT thickness(P<0.05).Compared with ultrasound,positive,positive and negative predictive value(P<0.05),positive and negative predictive value,positive and NIPT,combined examination,positive and negative,positive and negative predictive value(P<0.05).Compared with sonography,NIPT,combined examination showed high sensitivity,specificity and accuracy(P<0.05),the NIPT total positive value(positive predictive value,PPV)was 92.24%;For 54,X(included chimeras),54,XXX,54,XXY,54,XYY,and sex chromosome microdeletion,the PPV were 49.05%,79.15%,85.55%,43.19%,and 57.69%,respectively.The ultrasound test has lower sensitivity,specificity,and accuracy,NIPT,specificity,with statistical difference(P<0.05).Conclusions Screening of fetal chromosomal abnormalities through ultrasound examination,serum AFP-L2 and NIPT technology can improve the accuracy of screening for fetal chromosomal abnormalities,reduce the misdiagnosis rate,and have good diagnostic efficacy.The combination of ultrasound and serum with NIPT is important for screening fetal chromosomal abnormalities.
作者
王丹丹
张倩
Wang Dandan;Zhang Qian(Taizhou Hospital of Zhejiang Province affiltated to Wenzhou Medical University,Taizhou Zhejiang 318050,China)
出处
《医疗装备》
2024年第8期17-21,25,共6页
Medical Equipment
关键词
甲胎蛋白异质体-2
无创产前基因检测
超声
颈部透明层
孕早期
胎儿染色体异常
Alpha-fetoprotein heteromer-2
Noninvasive prenatal genetic testing
Ultrasound
Cervical hyaline layer
Early pregnancy
Fetal chromosomal abnormalities
