蛋白质组学在产前筛查与诊断中的应用  

Application of Proteomic Technologies for Prenatal Screening and Diagnosis

作　　者：王成东[1] 王瑞丽[1] 马华刚[1] 

机构地区：[1]山东省潍坊市人民医院生殖医学中心,261041

出　　处：《国际妇产科学杂志》2013年第3期207-210,共4页Journal of International Obstetrics and Gynecology

摘　　要：母血胎儿非整倍体筛查是减少和避免缺陷儿出生的有效手段,但其检出率和假阳性率有待进一步改善,以减少羊水穿刺等侵入性检查。以质谱为基础的蛋白质组学技术的蓬勃发展为该病相关标记物的发现提供了新的研究平台。通过对比正常与非整倍体胎儿母血蛋白质组的变化就能发现一个或一组候选标记物,有望改良目前的筛查方法或发展一种非侵袭性诊断方法。近年来,利用蛋白质组学技术筛选母血和羊水中胎儿非整倍体异常标记物的研究进展迅速,多数研究认为增加新的标记物能明显改善目前的常规筛查方法。然而,为了取得最大的临床诊断效能,应该选择一组潜在标记物在染色体正常与异常的妊娠妇女血液或羊水中进行大样本的对比分析。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.

关 键 词：蛋白质组学 羊水 遗传筛查 唐氏综合征 

分 类 号：R714.5[医药卫生—妇产科学]