We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
INTEGRA BIOSCIENCES AG

A. Menarini Diagnostics S.r.l.

A. Menarini Diagnostics S.r.l. is fully committed to developing high tech diagnostics instruments and reagents to imp... read more Featured Products: More products

Download Mobile App




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

By LabMedica International staff writers
Posted on 05 Jul 2024
Print article
Image: The cell based non-invasive prenatal technology demonstrated high resolution detection of fetal genomic abnormalities from a simple maternal blood draw (Photo courtesy of 123RF)
Image: The cell based non-invasive prenatal technology demonstrated high resolution detection of fetal genomic abnormalities from a simple maternal blood draw (Photo courtesy of 123RF)

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."

New
Platinum Member
Flu SARS-CoV-2 Combo Test
OSOM® Flu SARS-CoV-2 Combo Test
Magnetic Bead Separation Modules
MAG and HEATMAG
Anti-Cyclic Citrullinated Peptide Test
GPP-100 Anti-CCP Kit
Gold Member
Fully Automated Cell Density/Viability Analyzer
BioProfile FAST CDV

Print article
77 ELEKTRONIKA

Channels

Clinical Chemistry

view channel
Image: The new DxC 500i Clinical Analyzer is an integrated clinical chemistry and immunoassay analyzer (Photo courtesy of Beckman Coulter Diagnostics)

Integrated Chemistry and Immunoassay Analyzer with Extensive Assay Menu Offers Flexibility, Scalability and Data Commutability

As global healthcare systems increasingly shift towards networked laboratory operational models to enhance efficiency and patient access, there is a greater need for innovative solutions tailored to the... Read more

Hematology

view channel
Image: The Truvian diagnostic platform combines clinical chemistry, immunoassay and hematology testing in a single run (Photo courtesy of Truvian Health)

Automated Benchtop System to Bring Blood Testing To Anyone, Anywhere

Almost all medical decisions are dependent upon laboratory test results, which are essential for disease prevention and the management of chronic illnesses. However, routine blood testing remains limited worldwide.... Read more

Microbiology

view channel
Image: The Simplexa C. auris direct kit is a real-time polymerase chain reaction assay run on the LIAISON MDX instrument (Photo courtesy of Diasorin)

Novel Molecular Test to Help Prevent and Control Multi Drug-Resistant Fungal Pathogen in Healthcare Settings

Candida auris (C. auris) is a rapidly emerging multi drug-resistant fungal pathogen that is commonly found in healthcare environments, where it presents a challenge due to its ability to asymptomatically... Read more

Pathology

view channel
Image: Color-enhanced scanning electron micrograph showing Salmonella Typhimurium (red) invading cultured human cells (Photo courtesy of Rocky Mountain Laboratories, NIAID, NIH)

AI Identifies Drug-Resistant Typhoid-Like Infection from Microscopy Images within Hours

Antimicrobial resistance is becoming a serious global health concern, making many infections increasingly difficult to treat and limiting available treatment options. This escalation in resistance raises... Read more

Industry

view channel
Image: Beckman Coulter will utilize the ALZpath pTau217 antibody to detect key biomarker for Alzheimer\'s disease on its DxI 9000 immunoassay analyzer (Photo courtesy of Beckman Coulter)

Beckman Coulter Licenses Alzpath's Proprietary P-tau 217 Antibody to Develop Alzheimer's Blood Test

Cognitive assessments have traditionally been the primary method for diagnosing Alzheimer’s disease, but this approach has its limitations as symptoms become apparent only after significant brain changes... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.