Salute e Benessere
Menarini's cell based non-invasive prenatal technology demonstrates high resolution detection of fetal genomic abnormalities from a simple maternal blood draw
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: 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, "
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, therapeutic areas.
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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Linda PAVY
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