Data presented at the 2024 FMF (Fetal Medicine Foundation) World Congress in Lisbon, Portugal shows the potential for an automated system to deliver genomic profiles of fetal cells that is highly concordant with the genomic analysis obtained from invasive procedures. Results of a large clinical validation study show that Menarini Silicon Biosystems’ fetal cell based noninvasive prenatal screening (NIPT) technology can accurately detect both fetal genome-wide pathogenic copy number variants greater than 600Kb in size and the commonly screened trisomy conditions.
BOLOGNA, Italy and HUNTINGDON VALLEY, Pa., July 2, 2024 /PRNewswire/ –The Reproductive Precision Medicine Unit of Menarini Silicon Biosystems (MSB) presented last week, at the 21st World Congress of the Fetal Medicine Foundation meeting in Lisbon, Portugal, results of a large multicenter study describing their next generation non-invasive prenatal testing technology using fetal cells isolated from maternal blood. The genomic analysis of these fetal cells showed a high concordance with the analysis of fetal cells obtained from invasive diagnostic procedures. Moreover, MSB’s cell-based test, under development, demonstrated its potential validity for screening genomic conditions not easily found with currently available, state of the art, non-invasive screening technologies based on cell-free DNA (cfDNA) analysis.
This large study, which enrolled over 1,000 women, was centered on isolating individual fetal (trophoblast) cells from maternal blood and analyzing them for both common trisomic conditions and genome-wide microdeletions and microduplications, called pathogenic copy number variants (pCNVs), that account for significant perinatal morbidity and mortality. The results presented showed that MSB’s fetal cell based NIPT could deliver information beyond core “common” trisomies detected by standard non-invasive cfDNA analysis, as well as detect with a high level of accuracy and granularity genome-wide microdeletions and microduplications down to a size of at least 600Kb. The cell-based test was compared with chromosomal microarray analysis (CMA) and karyotype from chorionic villus sampling (CVS) or amniocentesis, the clinical gold – standard fetal diagnostic methodologies to detect genomic chromosomal abnormalities in the prenatal setting.
According to Professor Jon Hyett, Head of Maternal and Fetal Medicine at Liverpool Hospital and Professor of Obstetrics and Gynaecology at Western Sydney University, who looks after pregnancies that have a high risk of complication – either for the mother, or for the fetus: “This data is exciting because it 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.” Menarini’s new study thereby opens the door to a whole new paradigm in prenatal screening.
For Thomas Musci, MD, Chief Medical Officer, Head of Menarini Silicon Biosystems’ Reproductive Precision Medicine Business Unit, who presented the results of the study, “Isolating intact fetal cells from maternal blood for prenatal screening has long been perceived as an extremely challenging goal. 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.”
Menarini has been actively investing to advance single cell analysis and sequencing in the field of reproductive care. For Fabio Piazzalunga, President of Menarini Silicon Biosystems, “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”. These new activities fully support the company’s vision to become a leader in minimally invasive cell-based applications that can allow for easier, faster, and more precise diagnostic and therapeutic approaches in multiple therapeutic areas.
About Menarini Silicon Biosystems (MSB)
MSB offers unique rare cell technologies and solutions that provide clinical researchers with access to unparalleled resolution in the study of cells and their molecular characterization.
Menarini Silicon Biosystems, based in Castel Maggiore (Bologna, Italy), and Huntingdon Valley, PA., U.S., is a wholly owned subsidiary of the Menarini Group, a multinational pharmaceutical, biotechnology and diagnostics company headquartered in Florence, Italy, with more than 17,000 employees in 140 countries.
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SOURCE Menarini Silicon Biosystems
