Project description
An accurate and affordable non-invasive prenatal testing for Down syndrome
The cell-free fetal DNA in maternal plasma during pregnancy provides a unique source of fetal genetic material for prenatal diagnostics. Non-invasive prenatal testing (NIPT) is based on a genetic examination of plasma collected from a pregnant woman and offers a safe diagnostic option with no risk of miscarriage. The NIPT has been adopted in the clinical setting, and its accuracy has been improved due to the introduction of new generation sequencing (NGS). However, NGS-based assays are complex and carry a high-cost tag. The goal of the EU-funded Methyl-ddPCR NIPT project is to introduce an accurate and affordable methylation-based NIPT for the detection of Down syndrome using a droplet digital PCR as an alternative to the NGS-based assays.
Objective
Scientific and medical evidence indicate that non-invasive prenatal testing (NIPT) offers to pregnant women a safe option
during their pregnancy as it provides no risk of miscarriage. The NIPT is based on a genetic examination of plasma collected
from a pregnant woman. The discovery of cell-free fetal DNA (cff DNA) in maternal plasma during pregnancy provides a
promising source of fetal genetic material for the development of reliable methods for NIPT. In the last years, NIPT has been
widely adopted in the clinical setting as its accuracy has been dramatically improved mainly due to the introduction of new
generation sequencing (NGS) employing whole genome or targeted approaches. However, NGS based assays consist of
high complexity steps and high cost. This raises concerns about inequity in NIPT access, especially for women from low
socioeconomic groups and developed countries who cannot afford NIPT test.
The proposed study stems out from a frontier research performed during two previously funded ERC Grants. Our goal is to
take the first steps towards adapting and translating our previous findings into a safe, fast, accurate and affordable
methylation based non-invasive prenatal test for the detection of Down syndrome using a high precision technology such as
droplet digital PCR (ddPCR).
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
- natural sciencesbiological sciencesgeneticsDNA
- medical and health sciencesclinical medicineobstetrics
- natural sciencesbiological sciencesgeneticsgenomes
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Programme(s)
Funding Scheme
ERC-POC - Proof of Concept GrantHost institution
2409 NICOSIA
Cyprus
The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.