Proof of Concept study for the development of methylation based NIPT for trisomy 21 using droplet digital PCR

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 collectedfrom a pregnant woman.

The discovery of cell-free fetal DNA (cff DNA) in maternal plasma during pregnancy provides apromising source of fetal genetic material for the development of reliable methods for NIPT.

In the last years, NIPT has beenwidely adopted in the clinical setting as its accuracy has been dramatically improved mainly due to the introduction of newgeneration sequencing (NGS) employing whole genome or targeted approaches. However, NGS based assays consist ofhigh complexity steps and high cost.

This raises concerns about inequity in NIPT access, especially for women from lowsocioeconomic 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 totake the first steps towards adapting and translating our previous findings into a safe, fast, accurate and affordablemethylation based non-invasive prenatal test for the detection of Down syndrome using a high precision technology such asdroplet digital PCR (ddPCR).