Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Video

Updated: Mar 2, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.6K

Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing.

L F Johansson1,2, E N de Boer3, H A de Weerd4,5

  • 1University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands. l.johansson@umcg.nl.

Scientific Reports
|May 14, 2017
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Metastatic mismatch repair deficient oesophageal squamous cell carcinoma leading to diagnosis of Lynch syndrome with a complete response to nivolumab treatment.

Virchows Archiv : an international journal of pathology·2025
Same author

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping.

Orphanet journal of rare diseases·2025
Same author

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

Genome medicine·2025
Same author

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Journal of the European Academy of Dermatology and Venereology : JEADV·2024
Same author

A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia.

Leukemia·2023
Same author

Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling.

Annals of surgical oncology·2023
This summary is machine-generated.

New algorithms improve non-invasive prenatal testing (NIPT) for fetal aneuploidies. The chi-squared-based variation reduction (χ²VR) and regression-based Z-score (RBZ) enhance sensitivity and precision in cell-free DNA analysis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Non-invasive prenatal testing (NIPT) analyzes cell-free DNA in maternal plasma for fetal aneuploidies.
  • Low fetal DNA fractions necessitate highly sensitive and precise detection methods.
  • Sequencing variations reduce NIPT sensitivity and hinder trisomy detection.

Purpose of the Study:

  • To develop novel algorithms for improving NIPT sensitivity and specificity.
  • To address challenges posed by sequencing variations in cell-free DNA analysis.

Main Methods:

  • Developed three algorithms: chi-squared-based variation reduction (χ²VR), regression-based Z-score (RBZ), and Match QC score.
  • χ²VR reduces variability in chromosome read counts; RBZ enhances trisomy prediction accuracy.

More Related Videos

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.9K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

38.0K

Related Experiment Videos

Last Updated: Mar 2, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.6K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.9K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

38.0K
  • Compared χ²VR against existing methods (peak, GC correction) and RBZ against standard trisomy prediction algorithms.

    • Main Results:

    • χ²VR and RBZ demonstrated superior variability reduction compared to existing methods.
    • Both algorithms significantly increased the sensitivity of NIPT analysis.
    • The optimal combination involved GC correction and χ²VR for pre-processing, followed by RBZ for trisomy prediction.

    Conclusions:

    • The developed χ²VR and RBZ algorithms substantially improve NIPT performance.
    • These methods enhance the reliability of detecting fetal aneuploidies through cell-free DNA analysis.
    • The combined approach offers a more sensitive and specific NIPT strategy.