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目的 探讨孕妇孕中期二联血清标记物用于产前筛查时,对唐氏综合征、18-三体、神经管畸形等出生缺陷疾病检出的实际应用意义。方法 应用时间分辨荧光免疫分析技术对孕中期(15~20+6周)35岁以下妇女进行二联血清标记物(AFP、free-βHCG)检测,2T-risk软件计算风险值。对于高危孕妇进行产前诊断。结果 共筛查109 703例孕妇,其中唐氏综合征高危孕妇4725人,阳性率为 4.31%(4725/109 703),18-三体高危588人,阳性率0.54%(588/109 703),神经管畸形高危861人,阳性率0.78%(861/109 703)。接受羊膜腔穿刺术的高危孕妇1952人,发现染色体异常59人,异常检出率为3.02%(59/1952)。结论 利用孕妇二项血清标记物进行孕中期产前筛查可有效检出唐氏综合征等染色体异常疾病及其它部分先天性疾病,是预防和降低出生缺陷的有效手段。
Objective To investigate the significance of second trimester prenatal screening on detecting birth defects including Down’s Syndrome, 18-trisomy and nervous tube defects. Methods Applicate time-resolved fluorescence immunoassay to detect two serum makers (AFP and free β-HCG) in second trimester women (15~20+6w), whose ages are≤35years. Applicate 2T-risk soft ware to calculate risk. Prenatal diagnose high risk pregnant women. Results There are 4725 cases of Down’s Syndrome high-risk ones, 588 cases of 18-trisomy high risk ones and 861 cases of nervous tube defects high risk ones in total screening 109 703 pregnant women, which had positive rate 4.31% (4725/109 703), 0.54% (588/109 703), 0.78% (861/109 703) respectively. We found 59 cases fetal chromosome abnormalities within 1952 women who received prenatal diagnosis of amniotic fluid, which had detecting rate 3.02% (59/1952). Conclusion Second trimester prenatal screening by detecting AFP and HCG can predicting chromosome abnormalities and some other birth defects effectively, so it is important and effective way to prevent and decrease birth defects.
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