Non-Invasive Prenatal Technology Accurately Detects Fetal Genomic Abnormalities from Maternal Blood Draw

A new study has demonstrated the effectiveness of an automated system in delivering fetal genomic profiles that closely match those obtained through genomic analysis using traditional invasive procedures.

In a comprehensive clinical validation study, Menarini Silicon Biosystems (Bologna, Italy) has shown that its fetal cell-based noninvasive prenatal screening (NIPT) technology could accurately identify fetal genome-wide pathogenic copy number variants larger than 400Kb and commonly screened trisomy conditions. The findings were part of a large multicenter study highlighting its next-generation NIPT that isolates fetal cells from maternal blood. The genomic assessment of these cells was highly consistent with results from invasive diagnostic procedures. Additionally, the test being developed by Menarini has shown promise in identifying genomic conditions that are difficult to detect with the current non-invasive screening technologies, which rely on cell-free DNA (cfDNA) analysis.

The study involved over 1,000 women and focused on extracting individual fetal (trophoblast) cells from maternal blood for analysis. It aimed to detect common trisomic conditions and genome-wide microdeletions and microduplications, known as pathogenic copy number variants (pCNVs), which are significant contributors to perinatal morbidity and mortality. The results indicated that Menarini’s fetal cell-based NIPT could provide insights beyond the basic trisomies detected by standard cfDNA analysis and could accurately identify genome-wide microdeletions and microduplications down to at least 400Kb. The performance of this cell-based test was benchmarked against chromosomal microarray analysis (CMA) and karyotype from chorionic villus sampling (CVS) or amniocentesis, which are the clinical gold-standard methods for detecting prenatal chromosomal abnormalities.

"Isolating intact fetal cells from maternal blood for prenatal screening has long been perceived as an extremely challenging goal,” said Thomas Musci, MD, Chief Medical Officer, Head of Menarini Silicon Biosystems' Reproductive Precision Medicine Business Unit. “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."