关键词: 蛋白质组学, 羊水, 遗传筛查, 唐氏综合征

Abstract: Current screening for fetal aneuploidies relies mainly on biochemical markers from maternal blood to reduce the frequence of abnormal fetal，and the accuracy and false positive rate needs to be improved to reduce the number of pregnant women subjected to invasive diagnostic procedures，such as amniocentesis. Advances in technologies associated with mass spectrometry-based proteomic techniques have added a new research platform to the field of biomarker research. Comparisons of proteomes of normal fluids with those from aneuploidy pregnancies will allow for the identification of either one protein marker or a panel of candidate markers for prenatal screening of fetal aneuploidies that could be usefully employed for diagnostic purposes or improvement of the current screening methods. Proteomics-based indentification of biomarkers for fetal abnormalities in maternal plasma or amniotic fluid has made significant progress in the last several years. Many researches have demonstrated that discovery of additional markers via quantitative proteomic comparisons could drastically improve current conventional screening. However，for maximum diagnostic ability in clinical utility，biomarkers should be selected for further comparative analysis of expression modifications in large numbers of samples from chromosomally normal and abnormal pregnancies.

Key words: Proteomics, Amniotic fluid, Genetic screening, Down syndrome