New Blood Test Accurately Detects Fetal Genetic Disorders

Introduction to the New Technology

A newly developed blood test from Menarini Silicon Biosystems offers a non-invasive method to detect genetic disorders in fetuses with high accuracy. This advancement was presented at the 2024 World FMF in Lisbon, Portugal.

The test focuses on isolating fetal cells from maternal blood and creating genomic profiles which align closely with results obtained from invasive procedures.

Clinical Study Results

Menarini Silicon Biosystems conducted a significant clinical study involving over 1,000 women, demonstrating the test's ability to detect both common trisomies and more complex genetic variants, known as pathogenic copy number variants (pCNVs). These pCNVs can significantly affect prenatal health.

The results showcased that the new test could detect genetic variations that current non-invasive prenatal tests (NIPT) based on cell-free DNA analysis often miss.

Implications for Prenatal Care

The study's findings suggest a potential shift in prenatal screening, providing expecting parents and healthcare professionals with more detailed and accurate genetic information early in pregnancy.

According to Professor Jon Hyett from the Liverpool Hospital in Sydney, this test could offer higher-resolution genetic information compared to existing screening methods, enabling better-informed clinical decisions.

Technological Innovation

Menarini's automated system isolates and analyzes extravillous trophoblasts (cEVTs) from maternal blood. This technological leap supports the feasibility of cell-based NIPT for generating comprehensive fetal genomic profiles.

Dr. Thomas Musci of Menarini highlighted that isolating intact fetal cells for prenatal screening has been a challenge, but their advanced system achieves this efficiently, revolutionizing prenatal diagnostics.

Future Prospects

Fabio Piazzalunga, President of Menarini Silicon Biosystems, emphasized the potential of their technology to detect fetal anomalies with high sensitivity and specificity, setting a new standard in prenatal screening.

Menarini's focus on enhancing their single-cell analysis technology aligns with their vision to offer minimally invasive diagnostic and therapeutic solutions, improving prenatal care delivery.

Company Background

Menarini Silicon Biosystems, a subsidiary of the Menarini Group, operates from Italy and the USA, providing cutting-edge solutions for rare cell analysis.

Their expertise allows clinical researchers to study cells with exceptional detail, aiding in the advancement of reproductive medicine.

Menarini Group, with its robust global presence, continues to invest in innovative solutions across various therapeutic areas, supporting healthcare professionals in delivering precise and effective patient care.