论文部分内容阅读
目的探讨孕中期母血清产前筛查系统对唐氏综合征(DS)和18-三体综合征及神经管畸形(NTD)检出的临床应用价值。方法应用时间分辨荧光免疫分析技术(DELFIA)对120 309名孕中期(15～21周)孕妇进行血清标记物甲胎蛋白+游离人绒毛膜促性腺激素(AFP+freeβ-HCG)两联指标检测,筛查结果应用Lifecycle 3.0软件进行出生缺陷风险评估。结果 120 309名孕中期孕妇筛查出高风险孕妇5 022例,阳性率为4.17%;4 494例21-三体综合征和18-三体综合征高风险孕妇中有3 573例接受羊水或脐血穿刺产前诊断,占79.51%,发现胎儿核型异常49例,异常检出率为1.37%,其中DS 22例、18-三体综合征6例、其他异常核型21例。结论孕中期母血清标记物两联指标的产前筛查是预测DS和18-三体综合征、NTD的有效指标。
Objective To investigate the clinical application value of prenatal screening system for pregnant women with second trimester maternal serum in the detection of Down Syndrome (DS), 18-trisomy syndrome and neural tube defects (NTD). Methods A total of 120 309 pregnancies at the second trimester (15 ~ 21 weeks) were enrolled in this study. AFP + free β-HCG was detected by time-resolved fluorescence immunoassay (DELFIA) Screening Results Lifecycle 3.0 software was used to assess risk of birth defects. Results A total of 50,022 pregnant women of high risk were screened out in 120 309 pregnant women with a positive rate of 4.17%. Among the 5 494 infants with high risk of trisomy 21 and trisomy 18, 3 573 received amniotic fluid or Prenatal diagnosis of umbilical cord puncture, accounting for 79.51%, 49 cases were found abnormal fetal karyotype, the abnormal detection rate was 1.37%, DS 22 cases, 18 cases of trisomy syndrome in 6 cases, 21 cases of other abnormal karyotype. Conclusion The prenatal screening of pregnant women with dual markers of maternal serum in the second trimester of pregnancy is an effective index for predicting NTD and 18-trisomy syndrome.