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Completed
Methyl-ddPCR NIPT
Proof of Concept study for the development of methylation based NIPT for trisomy 21 using droplet digital PCR
FunderEuropean Commission
Funder Contribution €150,000.00
Duration01 Jan 2021 - 30 Jun 2022
Funded underH2020 | ERC | ERC-POC-LS
Call for proposalERC-2020-PoC
Project code957444
Identifiers
Project timeline100%
Description
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).
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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).
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Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. 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Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. Provider Academic Bibliometrics & Assessment Computational Utility Service Expiration Session Name greekSession Description Stores the user session ID for Academic Bibliometrics & Assessment Computational Utility Service. 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