Menarini Silicon Biosystems (MSB) has presented data at the 2024 Fetal Medicine Foundation (FMF) World Congress in Lisbon, Portugal, demonstrating the accuracy of their cell-based non-invasive prenatal testing (NIPT) technology. The study results indicate that their technology can detect fetal genomic abnormalities through a maternal blood draw with high resolution. MSB offers unique rare cell technologies and solutions that provide clinical researchers with advanced resolution in cell study and molecular characterization.
Conducted by MSB’s Reproductive Precision Medicine Unit, the recently released study involved over 1,000 women and focused on isolating fetal cells from maternal blood. These cells were analyzed for common trisomic conditions and genome-wide pathogenic copy number variants (pCNVs) greater than 400Kb in size. The findings showed a high concordance between the genomic profiles of these fetal cells and those obtained from invasive procedures such as chorionic villus sampling (CVS) and amniocentesis.
“This data shows the potential to deliver clinically relevant and actionable information about fetal genomic abnormalities at higher resolution and accuracy than existing screening tests and at an early gestational age when almost no pCNVs are currently detected,” said Professor Jon Hyett, Head of Maternal and Fetal Medicine at Liverpool Hospital and Professor of Obstetrics and Gynaecology at Western Sydney University.
MSB’s cell-based NIPT technology provides comprehensive genomic information beyond what is typically available through current non-invasive screening technologies based on cell-free DNA (cfDNA) analysis. The cell-based test’s ability to detect both common trisomies and genome-wide microdeletions and microduplications with high accuracy marks a significant advancement in prenatal screening.
“Isolating intact fetal cells from maternal blood for prenatal screening has long been perceived as an extremely challenging goal,” stated Dr. Thomas Musci, Chief Medical Officer and Head of MSB’s Reproductive Precision Medicine Business Unit. “Our highly automated system for the isolation and single-cell analysis of circulating extravillous trophoblasts (cEVTs) supports the feasibility of a cell-based NIPT for fetal genomic profiling that can lead to more informed decision-making at all levels.”
Fabio Piazzalunga, President of Menarini Silicon Biosystems, emphasized the potential impact of this technology on women’s health: “The results of this study, which confirmed the potential ability of our cell-based NIPT to identify fetal abnormalities with high sensitivity, accuracy, and specificity, show the potential of Menarini to significantly impact women’s health. Our continuous commitment and efforts to advance our scientific findings in this field aim to provide, in the future, a potentially revolutionary solution that brings more information to women and their doctors.”
