Menarini's cell based non-invasive prenatal technology demonstrates high resolution detection of foetal genomic abnormalities from a simple maternal blood draw

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 multicentre study describing their next generation non-invasive prenatal testing technology using foetal cells isolated from maternal blood.

The genomic analysis of these foetal cells showed a high concordance with the analysis of foetal 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 centred on isolating individual foetal (trophoblast) cells from maternal blood and analysing 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 foetal 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 400Kb.

The cell-based test was compared with chromosomal microarray analysis (CMA) and karyotype from chorionic villus sampling (CVS) or amniocentesis, the clinical gold - standard foetal 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 foetus: "This data is exciting because it shows the potential to deliver clinically relevant and actionable information about foetal 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 foetal 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 foetal 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 foetal 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.