Prenatal diagnosis of maternal serum from mothers carrying β-thalassemic fetus.

BACKGROUND Current study focused on discovering protein biomarkers from the maternal serum of β-thalassemic trait mothers carrying the normal fetus and β-thalassemic major fetus. METHOD Serum samples from β-thalassemic trait mothers carrying major (N=5) and normal fetuses (N=5) were studied. IVS1-5 thalassemia mutation was common among β-thalassemic trait mothers who were carrying homozygous β-thalassemic fetus (IVS1-5/ IVS1-5 mutation) or normal fetus (no mutation). We employed two-dimensional gel electrophoresis and mass spectrometric analysis to explore differentially expressed maternal serum proteins from thalassemia carrier couples having the same β-thalassemia mutation. Western blotting was performed for one of the identified proteins to validate our data. RESULTS Ten proteins were identified in maternal serum of β-thalassemic trait mothers carrying the β-thalassemic major fetus and normal fetus. Among these, Serotransferrin, Haptoglobin, Alpha-1 anti-trypsin (A1AT), Apo-lipoprotein A1, and Fibrinogen-beta chain were found to be up-regulated in mothers carrying major fetuses and are known to be associated with pregnancy-related disorders. The expression of A1AT was validated through western blotting. CONCLUSION Proteins identified in the current study from maternal serum are reported to contribute to hereditary disorders. We suggest that these can serve as putative screening markers for non-invasive prenatal diagnosis in β-thalassemic pregnancies.