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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Contact:
PAVY Consulting
Linda PAVY
lipavy@pavyconsulting.com
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SOURCE Menarini Silicon Biosystems