上海诺德科技发展有限公司与上海儿科医学研究所签署了孕中期产前三联筛查。产前筛查在孕中期产前诊断中的价值。方法:2009年10月开始对10000例孕16~20周的妇女行产前筛查,检测其血清中甲胎蛋白(AFP)、游离β绒毛膜促性腺激素(F-βHCG)和游离雌三醇(μE3)浓度,结合年龄、体重等因素,评定危险系数。高危孕妇进行羊膜腔穿刺,羊水细胞染色体核型检查以确诊。结筛出唐氏综合征(DS)高风险病例,经羊水细胞染色体核型分析确诊病例;18-三体高风险,确诊病例1例:神经管缺陷(NTD)高风险病例。所有筛查孕妇均随访至胎儿出生。结论:产前筛查可提高先天缺陷儿的检出率,是提高出生人口素质的有效技术措施。




    Shanghai nord science and technology development co., ltd. and Shanghai institute of paediatric medicine signed the third triad prenatal screening. The value of prenatal screening in prenatal diagnosis in the second trimester. Methods: prenatal screening was conducted in 10000 pregnant women from 16 to 20 weeks in October 2009 to detect serum levels of alpha fetoprotein (AFP), free HCG and free estriol (E3). Pregnant women at high risk underwent amniocentesis and chromosome karyotype examination of amniotic fluid cells to confirm the diagnosis. High risk cases of down syndrome (DS) were screened and confirmed by chromosome karyotype analysis of amniotic fluid cells. 18-trisomy high risk, 1 confirmed case: neural tube defect (NTD) high risk. All women screened were followed up to birth. Conclusion: prenatal screening can improve the detection rate of children with congenital defects and is an effective technical measure to improve the quality of the born population.

唐氏综合症的筛查

Down syndrome screening