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NIPD Report Summary

Project ID: 322953
Funded under: FP7-IDEAS-ERC
Country: Cyprus

Mid-Term Report Summary - NIPD (A Novel Non-Invasive Prenatal Diagnosis for Genetic Disorders)

The main objective of the project is to develop and validate a novel non-invasive prenatal test for the identification of genetic diseases and syndromes, which are caused by aneuploidies, copy number changes or point mutations. We successfully identified thousands of fetal specific, differentially methylated regions between fetal and maternal DNA, using a newly developed plasma-MeDIP-NGS method. We also reconstructed the fetal and maternal methylome at base pair resolution using whole genome bisulfite sequencing.

Correlation between MeDIP-NGS and bisulfite sequencing data resulted in the discovery of hundreds of fetal specific DMRs. These DMRs were confirmed using MeDIP-Targeted NGS, a double enrichment approach developed for the purposes of the project. Multiple fetal and maternal samples were then investigated based on their inter-individual methylation variability. Results showed that the extend of variability is not large enough to mask the levels of differential methylation found between fetal and maternal DNA.

Finally, towards the development of a NIPT assay we applied MeDIP-Targeted NGS on normal and abnormal (trisomy 21) spike-in samples at different percentages (5-20%). Using three novel mathematical models we successfully classified all normal and abnormal samples.

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