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

Expert Rev Proteomics. 2015 Feb;12(1):97-107. doi: 10.1586/14789450.2015.979796. Epub 2014 Nov 29.

Abstract

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

Methods: 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.

Results: 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.

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

Keywords: Down’s syndrome; biomarker; maternal serum; prenatal screening; proteomics.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biomarkers / blood
  • Complement C3b Inactivator Proteins
  • Down Syndrome / blood*
  • Female
  • Humans
  • Kininogens / blood
  • Maternal Serum Screening Tests*
  • Pregnancy
  • Pregnancy Trimester, Second / blood*
  • beta 2-Glycoprotein I / blood

Substances

  • Biomarkers
  • CFHR1 protein, human
  • Complement C3b Inactivator Proteins
  • Kininogens
  • beta 2-Glycoprotein I