The Reproductive Precision Medicine Unit of Menarini Silicon Biosystems recently unveiled the findings of a pioneering study at the 21st World Congress of the Fetal Medicine Foundation meeting in Lisbon, Portugal. The study highlighted their cutting-edge non-invasive prenatal testing technology which utilises fetal cells extracted from maternal blood. This innovative approach showcased the capability to provide clinically significant and actionable information regarding fetal genomic abnormalities with a higher level of precision and accuracy compared to existing screening tests, signifying a potential shift in prenatal screening practices.
The extensive multi-centre study, involving more than 1,000 women, concentrated on the isolation of individual fetal cells from maternal blood and their analysis for both common trisomic conditions and genome-wide microdeletions and microduplications, also known as pathogenic copy number variants (pCNVs). These types of abnormalities can result in substantial perinatal morbidity and mortality. The results demonstrated that the fetal cell based non-invasive prenatal testing technology from Menarini Silicon Biosystems could furnish information beyond the typical “common” trisomies identified by standard non-invasive DNA analysis, as well as identify genome-wide microdeletions and microduplications with outstanding accuracy and detail.
According to Professor Jon Hyett, a renowned authority in Maternal and Fetal Medicine, “This data is compelling as it shows the potential to provide clinically significant and actionable information about fetal genomic abnormalities at a higher level of precision and accuracy than existing screening tests and at an early gestational age when almost no pCNVs are currently detected.” This promising development represents a significant milestone in the field of prenatal screening, unlocking new possibilities for the detection of fetal abnormalities.
The findings of the study underscore the potential for Menarini Silicon Biosystems to have a substantial impact on women’s health by offering a potentially revolutionary solution for detecting fetal abnormalities with high sensitivity, accuracy, and specificity. The company’s sustained dedication and efforts to advance their scientific findings in this field are aimed at providing a ground-breaking approach that delivers additional information to women and their healthcare providers, leading to more informed decision-making at all levels within the realm of prenatal care.
Menarini Silicon Biosystems has been proactively investing in the advancement of single cell analysis and sequencing in the field of reproductive care. Their Chief Medical Officer, Thomas Musci, highlighted the significance of their highly automated system for the isolation and single-cell analysis of circulating extravillous trophoblasts (cEVTs) in supporting the feasibility of a cell-based NIPT for fetal genomic profiling. This innovative approach has the potential to result in easier, faster, and more precise diagnostic and therapeutic approaches in various therapeutic areas, aligning with the company’s vision to become a leader in minimally invasive cell-based applications.
Ultimately, Menarini Silicon Biosystems’ groundbreaking study represents a turning point in prenatal testing technology, showing great promise for earlier and more accurate detection of fetal genomic abnormalities. Their dedication to advancing scientific findings in this field demonstrates a commitment to improving the standard of care for women and their unborn children. As they continue their work in this area, the potential for a revolutionary solution in prenatal care becomes increasingly within reach.