Prenatal diagnosis of maternal serum from mothers carrying β‐thalassemic fetus

AbstractBackgroundThis study focuses on the discovery of protein biomarkers from the maternal serum of β‐thalassemic trait mothers carrying the normal fetus and β‐thalassemic major fetus.MethodsSerum samples from β‐thalassemic trait mothers carrying major (N = 5) and normal fetuses (N = 5) were studied. The IVS1‐5 thalassemia mutation was common among β‐thalassemic trait mothers who were carrying a homozygous β‐thalassemic fetus (IVS1‐5/ IVS1‐5 mutation) or a normal fetus (no mutation). We employed two‐dimensional gel electrophoresis and mass spectrometry analysis to explore differentially expressed maternal serum proteins from thalassemia carrier couples with the same β‐thalassemia mutation. Western blotting was performed for one of the identified proteins to validate our data.ResultsTen proteins were identified in the maternal serum of β‐thalassemic trait mothers carrying the β‐thalassemic major fetus and normal fetus. Among these, serotransferrin, haptoglobin, α‐1 anti‐trypsin, apo‐lipoprotein A1, and the fibrinogen‐β chain were found to be upregulated in mothers carrying major fetuses and are known to be associated with pregnancy‐related disorders. The expression of α‐1 anti‐trypsin was validated through western blotting.ConclusionsProteins 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.