Proteomic profile of serum of pregnant women carring a fetus with Down syndrome using nano uplc Q-tof ms/ms technology

Abstract

Introduction: Prenatal diagnosis of Down syndrome (DS) is based on the calculated risk of maternal age, biochemical and ultrasonographic markers and recently by cfDNA. Differences in proteomic profiles may give an opportunity to find new biomarkers.

Objective: Characterize proteome of serum of mothers carrying DS fetus.

Material and methods: Blood serum samples of three groups of women were obtained, (a) 10 non-pregnant, (b) 10 pregnant with healthy fetus by ultrasound evaluation, (c) nine pregnant with DS fetus. Sample preparation was as follows: Albumin/IgG depletion, desalting, and trypsin digestion; the process was performed in nanoUPLC MS/MS. Data analysis was made with Mass Lynx 4.1 and ProteinLynx Global Server 3.0, peptide and protein recognition by MASCOT algorithm and UNIPROT-Swissprot database.

Results: Each group showed different protein profiles. Some proteins were shared between groups. Only sera from pregnant women showed proteins related to immune and clot pathways. Mothers with DS fetus had 42 specific proteins.

Conclusions: We found a different serum protein profile in mothers carrying DS fetuses that do not reflect expression of genes in the extra chromosome. Further studies will be necessary to establish the role of these proteins in aneuploid fetus and analyze their possible use as potential biomarkers.

Keywords:

• Prenatal diagnosis
• aneuploidy
• proteomics
• trisomy 21

Acknowledgements

We thank all the women who were kind enough to participate in this study including both pregnant and non-pregnant groups, also we show our gratitude to the gynecologists because without their help the collection of patients would be more difficult.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.