Summary
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).
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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More information & hyperlinks
| Web resources: | https://cordis.europa.eu/project/id/957444 |
| Start date: | 01-01-2021 |
| End date: | 30-06-2022 |
| Total budget - Public funding: | - 150 000,00 Euro |
Cordis data
Original description
Scientific and medical evidence indicate that non-invasive prenatal testing (NIPT) offers to pregnant women a safe optionduring 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).
Status
CLOSEDCall topic
ERC-2020-POCUpdate Date
27-04-2024
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