Menarini announced new cell based non-invasive prenatal technology

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Italy's Menarini Silicon Biosystems (MSB) announced the 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.

Professor Jon Hyett, Head of Maternal & Fetal Medicine at Liverpool Hospital, and Professor of Obstetrics and Gynaecology at Western Sydney University said,"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.