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Related Experiment Video

Updated: Feb 13, 2026

Combining Single-molecule Manipulation and Imaging for the Study of Protein-DNA Interactions
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Imaging single DNA molecules for high precision NIPT.

Fredrik Dahl1, Olle Ericsson2, Olof Karlberg1

  • 1Vanadis Diagnostics, a PerkinElmer company, Stockholms Lan, Sweden.

Scientific Reports
|March 16, 2018
PubMed
Summary
This summary is machine-generated.

A new, cost-effective non-invasive prenatal testing (NIPT) method, the Vanadis assay, accurately detects chromosomal aneuploidies. This digital assay simplifies workflow and improves detection rates, making NIPT more accessible.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Reproductive Health

Background:

  • Non-invasive prenatal testing (NIPT) is crucial for aneuploidy screening.
  • High cost and workflow complexity limit widespread NIPT adoption.
  • Novel methods are needed to enhance NIPT accessibility and precision.

Purpose of the Study:

  • To evaluate the analytical precision and clinical feasibility of the Vanadis NIPT assay.
  • To assess the assay's performance in detecting chromosomal aneuploidies.
  • To determine the assay's limit of detection, especially with low fetal-fraction samples.

Main Methods:

  • Development of a novel, cost-effective Vanadis NIPT assay using unique molecular probes.
  • Digital measurement of chromosomal aneuploidies in maternal plasma without DNA amplification, microarrays, or sequencing.
  • Utilizing a nanofilter for single-molecule enrichment, imaging, and counting.

Main Results:

  • The Vanadis NIPT assay demonstrated high analytical precision.
  • A limit of detection below 2% fetal-fraction was achieved, enabling analysis of challenging samples.
  • In a clinical cohort, 30 out of 30 pregnancies with trisomy 21 were correctly identified.

Conclusions:

  • The Vanadis NIPT assay offers a cost-effective and simplified approach to aneuploidy screening.
  • The assay shows potential for wider NIPT availability, improving detection and reducing false positive rates.
  • This technology can enhance prenatal care by making advanced genetic screening more accessible.