孕早期唐氏综合征的生化标志物

First-trimester biochemical markers for Down syndrome.

作者信息

Casals E, Aibar C, Martínez J M, Borrell A, Soler A, Ojuel J, Ballesta A M, Fortuny A

机构信息

Clinical Biochemistry Laboratory, Hospital Clinic, University of Barcelona, Spain.

出版信息

Prenat Diagn. 1999 Jan;19(1):8-11. doi: 10.1002/(sici)1097-0223(199901)19:1<8::aid-pd460>3.0.co;2-1.

DOI:10.1002/(sici)1097-0223(199901)19:1<8::aid-pd460>3.0.co;2-1

PMID:10073898

Abstract

The value of maternal serum pregnancy-associated protein A (PAPP-A), free and total beta human chorionic gonadotrophin (fbetahCG, betahCG) and alpha-fetoprotein (AFP) in screening for Down syndrome (DS) in early pregnancy has been assessed. To evaluate the different biochemical markers, 32 DS pregnancies and 267 controls were used for AFP, betahCG and PAPP-A. A subgroup of those (17 DS and 136 controls) were used to evaluate fbetahCG. All analytes were determined in fresh serum samples. Our results give support to the feasibility of maternal serum levels of PAPP-A as the best biochemical marker for DS in the first trimester, and either betahCG or fbetahCG as the second marker. No differences were found between betahCG and fbetahCG distribution levels as expressed as MoMs in normal and DS pregnancies in this study.

摘要

评估了孕妇血清妊娠相关蛋白A（PAPP-A）、游离和总β人绒毛膜促性腺激素（fbetahCG、betahCG）以及甲胎蛋白（AFP）在孕早期筛查唐氏综合征（DS）中的价值。为评估不同的生化标志物，选取32例DS妊娠和267例对照用于AFP、betahCG和PAPP-A检测。其中一个亚组（17例DS和136例对照）用于评估fbetahCG。所有分析物均在新鲜血清样本中测定。我们的结果支持了孕早期孕妇血清PAPP-A水平作为DS最佳生化标志物的可行性，以及betahCG或fbetahCG作为第二标志物的可行性。在本研究中，正常妊娠和DS妊娠中，betahCG和fbetahCG以中位数倍数（MoMs）表示的分布水平未发现差异。