Salute e Benessere
/C O R R E C T I O N -- Menarini Silicon Biosystems/
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 21 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 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 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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