摘要
目的 探讨孕早期唐氏综合征筛查的实用价值。方法应用时间分辨荧光免疫法对4186例孕早期(10~13^+6周)妇女进行血清标记物(PAPP-A+free-β-hCG)二项指标双标试剂盒检测,筛查结果应用Muhieale软件计算唐氏综合征风险。唐氏综合征风险切割值为1:250,当≥1:250时为唐氏综合征高危孕妇。于孕18周以后抽胎儿的脐血进行胎儿核型分析。结果产前筛查4186例孕妇,筛查唐氏综合征高危孕妇233例,假阳性率为5.5%,有138例接受了羊水或脐血产前诊断,发现3例唐氏综合征,其中1例唐氏综合征儿是漏诊,其它胎儿染色体异常共21例,异常检出率为15.2%。唐氏筛查高风险度组和低风险度组的妊娠不良结局分别为26.1%和10.5%,差异有显著性(P〈0.05)。结论孕早期血清PAPP-A和free-β-hCG标记物是产前筛查异常胎儿的有效指标,再结合产前诊断对防止先天缺陷有实用性价值。
Objective To explore the practical value of Down' s syndrome screening in early pregnancy. Methods Serum (PAPP-A and free-β-hCG) level of 4 186 pregnant women (at 10 - 13^ +6 weeks of congestation) were detected by time-distinguished fluorescence immunoassay. Downg syndrome risk value was calculated with Muhicalc software, its cut-off value was 1:250. The pregnant women whose risk value was higher than or equal to 1 : 250 were regarded as to be at high risk and need to receive cordocentesis for fetal karyotype analysis after 18 weeks of congestation. Results 4 186 pregnant women underwent antenatal screening, 233 of them were in high risk of Down's syndrome, and the false positive rate was 5.5%. Fetal karyotypes of 138 cases were examined by cordocentesis, Three cases of Down's syndrome (one of them was leaked by diagnosis ) and 21 cases with fetal other abnormal chromosome were determined. The detectable rate was 15.2%. There was significant difference in rate of abnormal outcome of pregnant women and fetuses in the two groups ( high risk and low risk of Down' s syndrome groups) (26.1% and 10.5 % respectively, P 〈 0.05 ). Conclusion Serum PAPP-A and free- β-hCG level of pregnant women in the first-trimester were effective index to identify those abnormal fetuses. As combined with antenatal diagnosis, it would be a practical method of preventing congenital defects.
出处
《中国妇幼健康研究》
2006年第2期71-72,共2页
Chinese Journal of Woman and Child Health Research
基金
2002年广东省卫生厅资助项目(WSTJJ20011228430105651209301)
珠海市科委立项资助项目(51)
关键词
唐氏筛查
产前诊断
染色体
胎儿异常
Down's syndrome screening
antenatal diagnosis
chromosome
fetal abnormality