Screening and identification of potential predictive biomarkers for Down's syndrome from second trimester maternal...

In this study, we aimed to search for noninvasive predictive biomarkers for prenatal diagnosis of Down's syndrome (DS).

Maternal serum samples from five DS-affected pregnant women and five DS-unaffected women were analyzed by 2D gel electrophoresis and MALDI-TOF mass spectrometry to screen for potential predictive biomarkers of DS. Then, differential levels of dGTPase, β2-glycoprotein I (β2-GPI), complement factor H-related protein 1 precursor (CFHR1) and kininogen 1 isoform 2 were further verified by western blotting tests in another independent group.

Statistical analysis results revealed 29 protein spots whose levels differed significantly in the DS-affected pregnancies group. Of these, the eight most differentially expressed in DP were identified successfully. Among these, levels of dGTPase, CFHR1 and kininogen 1 were elevated significantly, whereas β2-GPI was reduced in DP.

These preliminarily verified proteins might serve as potential predictive biomarkers for DS-affected pregnancies.