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母血清生化二联、三联标记物筛查胎儿唐氏综合征 被引量:18

Screening by Maternal Serum Markers for Down's Syndrome
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摘要 目的 用母血清生化标记物筛查胎儿唐氏综合征(Down’s syndrome,DS)等先天异常。方法 应用孕妇血清指标和时间分辨荧光免疫分析法对本院1996年11月~2001年3月在本科产前检查的2886例孕妇进行DS胎儿筛查。对高危孕妇作羊膜腔穿刺或早孕绒毛取材以得到胎儿染色体。对应用的指标检出率及假阳性率进行分析。结果 共检出11例DS,8例无脑儿;DS检出率3.8‰。结论 妊娠相关血浆蛋白A(PAPP-A)筛查胎儿DS有很好的价值并能使产前诊断时期提前,甲胎蛋白+游离人绒毛膜促性腺激素(AFP+freeβ-HCG)可用于检测DS和胎儿异常。 Objective To investigate the optimal method of screening for Down' s syndrome (DS) with maternal serum mankers. Methods Screening by maternal serum markers for Down's syndrome was offered to all 2886 pregnant women in Peking Union Medical Hospital during 1996.11 ~ 2001.3. Alpha-fetoprotein (AFP), human chorionic gonadotrophin (free β-HCG) were used as markers during the first year of pregnancy. Alpha-fetoprotein, free human chorionic gonadotrophin (HCG) and pregnancy-associated plasma protein A (PAPP-A) were used as mid pregnancy and first-trimester markers in next three years. Amniocentesis and (CVS) were done in those defined as risk cases. Results The detection rate of Down's syndrome by maternal serum markers was 3.8‰(11/2886). The proportion of false positive results in group of triple markers (αFP, free β-HCG, PAPP-A) was 5%. Conclusions The PAPP-A was a good marker to defect Down's syndrome in early pregnancy and may be used to predict the outcome during mid trimester of pregnancy. The AFP and free β-HCG can be useful markers to detect Down's syndrome and fetal abnormality. While prenatal diagnostics can be shifted to an early pregnant period.
机构地区 中国医学科学院
出处 《中国医学科学院学报》 CAS CSCD 北大核心 2003年第2期156-159,共4页 Acta Academiae Medicinae Sinicae
关键词 唐氏综合征 筛查 胎儿 Down's syndrome screening fetal
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参考文献6

  • 1Goodman RM, Corlin RJ. The malformed infant and child.London: Oxford University Press, 1983.
  • 2Salonen R, Maternal serum screening for Down's syndrome on population basis. Acta Obstet Gyneccl Scand, 1997,76:817-821.
  • 3Zimmermann R, Hucha A, Savoldelli G. Serum, parameters and nuchal translucency in first trimester screening for fatal chromosomal abnormalities. Br J Obstet Gyneccl, 1996,103:1009-1014.
  • 4Spencer K, Sourer V, Tul N. A screening program for Tfisomy 21 at 10-14 weeks using fetal nuchal translucency,maternal serum free β-human chorionic gonadotropin andp regnancy associated plasma protein-A. Ultrasound Obstet Gynecol, 1999, 13:231-237.
  • 5Pedersen JF, Ruge S, Soreneen S. Serum levels of hpl,papp-a and PP14 in patients with early pregnancy bleeding and subchorionic hemorrhage. Acta Obsteet Gyneccl Stand,1995, 74:30-32.
  • 6Wald NJ. Serum screening for Down's syndrome between and 14 weeks of pregnancy. Br J Obstet Gyneecl, 1996,103:407-412.

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