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目的:分析早中孕整合产前筛查对胎儿出生缺陷筛查的效能,及早发现新生儿缺陷。方法:收集1670例行产前筛查的孕妇的临床资料,其中1 191例(早中孕组)早期测量胎儿NT,用荧光免疫法检测母血清标志物PAPP-A及Freeβ-HCG,中期检测母血清标志物AFP、Freep-HCG及uE3;479例(中孕组)仅进行中期筛查,计算胎儿缺陷危险概率,并随访分析两组产前诊断及妊娠结局。结果:早中孕组产前筛查阳性预测值、假阳性率为20.37%、3.61%,与中孕组的3.57%、5.68%比较差异具有统计学意义(P<0.05);早中孕组未发现DS、ES、NTD漏筛查,中孕期有1例DS和1例NTD漏筛查。结论:早中孕整合产前筛查对出生缺陷的检出率高,可为新生儿缺陷干预提供客观依据。
Objective: To analyze the effect of prenatal screening combined with prenatal screening on the screening of fetus birth defects, early detection of neonatal defects. Methods: The clinical data of 1670 prenatal screening pregnant women were collected. Among them, 1 191 cases of early pregnant women received early detection of fetal NT, PAPP-A and Freeβ-HCG were detected by fluorescence immunoassay, Markers of serum AFP, Freep-HCG and uE3; 479 cases (the second trimester group) were only screened at mid-term to calculate the risk of fetal defect. The prenatal diagnosis and pregnancy outcome were analyzed. Results: The positive predictive value of prenatal screening in early-middle-aged pregnancy group was 20.37%, 3.61%, which was significantly different from 3.57%, 5.68% in the second trimester group (P <0.05) No DS, ES, NTD missed screening, 1 DS during pregnancy and 1 NTD missed screening. Conclusion: The detection rate of prenatal screening combined with prenatal screening for birth defects is high, which can provide an objective basis for neonatal defect intervention.