2656例三体综合征产前筛查与诊断的分析  

Prenatal screening and diagnosis of 2 656 cases of trisomic syndrome

作　　者：眭建忠[1] 张慧敏[1] 丘文君[1] 任一婷[1] 孙筱放[1] 

机构地区：[1]广州医学院第三附属医院生殖与遗传重点实验室,广东广州510150

出　　处：《中国妇幼健康研究》2009年第6期691-694,共4页Chinese Journal of Woman and Child Health Research

基　　金：广东省教育部产学研项目(编号2007B090400140);广州市荔湾区科技项目(编号20081211080)

摘　　要：目的探讨孕中期血清标记物在产前筛查三体综合征及神经管缺损为主的先天性缺陷疾病中的，临床应用价值。方法应用时间分辨荧光免疫法检测孕中期血清标记物甲胎蛋白-A、游离人绒毛膜促性腺激素及雌三醇。结果2656例孕妇中，检出三体综合征高风险122例，占筛查总数的4．6％；神经管缺损高风险26例，占筛查总数的9．8‰。产前诊断确诊为三体综合征3例，无脑儿及胎儿腹裂各1例。对筛查出的低风险孕妇追踪发现唐氏综合征1例。异常染色体胎儿的检出率为75．0％，假阳性率为4．5％。结论孕中期应用母血清三联生化指标进行无创性产前筛查是可行的，但检出率较低，筛查方法还需进一步探索、改进。Objective To evaluate clinical application value of maternal serum marker detection in the second trimester of pregnancy in prenatal screening of congenital defective diseases such as trisomic syndrome and neural tube defect （NTD） . Methods Auto time-resolved fluoroimmunoassay was used to determine serum levels of free beta-human chorionic gonadotrophin （FIS-hCG） , alpha-fetoprotein （AFP） and uneonjugated estriol （ uE3 ） of 2 656 pregnant women at 14 - 21th weeks of gestation. Results Among 2 656 pregnant women investigated, 122 pregnant women were identified to have a fetus with high risk of trisomy（ accounting for 4.6% ） and 26 pregnant women were identified to have a fetus with hgh risk of neural tube defect （NTD） （accounting for 9.8%c） respectively. In this screening, 5 cases of fetal anomalies were identified, including one case of Down＇ s syndrome, two cases of Edward＇ s syndrome, one case of anencephaly and one case of fetal gastroschisis. Among those women who had low risk of trisomic syndrome, one missed case of Down＇ s syndrome was identified in follow-up. In this study, the detectable rate of chromosomal abnormality was 75.0% and the false positive rate was 4.5%. Conclusion The prenatal screening by detecting maternal serum levels of AFP, Fβ- hCG and uE3 in the second trimester of pregnancy is a feasible method, but the detectable rate is low. So better prenatal screening methods should be explored.

关 键 词：产前筛查 产前诊断 三体综合征 神经管缺损 

分 类 号：R722[医药卫生—儿科]