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Related Experiment Video

Updated: Jul 13, 2025

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

36.9K

Optical genome mapping for prenatal diagnosis: A prospective study.

Carole Goumy1, Zangbéwendé Guy Ouedraogo2, Gwendoline Soler3

  • 1Cytogénétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, Hôpital Estaing, Clermont-Ferrand, France; INSERM U1240 Imagerie Moléculaire et Stratégies Théranostiques, Université Clermont Auvergne, Clermont Ferrand, France.

Clinica Chimica Acta; International Journal of Clinical Chemistry
|October 13, 2023
PubMed

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Summary

Optical genome mapping (OGM) accurately detects genetic abnormalities in prenatal samples, showing high concordance with standard methods. This advanced technique aids in genetic counseling and prenatal decision-making for fetal anomalies.

Area of Science:

  • Genomics
  • Prenatal Diagnostics
  • Cytogenetics

Background:

  • Cytogenetic analysis is crucial for prenatal decision-making and genetic counseling.
  • Optical Genome Mapping (OGM) has shown promise in retrospective studies for detecting genomic alterations.

Purpose of the Study:

  • To prospectively evaluate the performance of OGM in analyzing DNA quality from amniotic fluid (AF) and chorionic villi (CV) cultures.
  • To assess OGM's capability in detecting clinically relevant genomic aberrations compared to standard methods.

Main Methods:

  • Prospective analysis of 37 prenatal samples from pregnancies with fetal anomalies.
  • Samples were analyzed using OGM, with results interpreted blindly and compared to standard cytogenetic techniques.

Main Results:

Keywords:
Optical genome mappingPrenatal diagnosisProspective study

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  • OGM yielded interpretable results in 92% of prenatal samples.
  • 100% concordance was observed between OGM and conventional methods (karyotype/chromosomal microarray).
  • OGM identified a median of 30 small structural variations (<100 kb) per case, including those involving OMIM genes.

Conclusions:

  • OGM demonstrates strong performance in detecting genomic alterations in prenatal samples.
  • Further research is needed to define OGM's role alongside chromosomal microarray (CMA) and exome sequencing for optimizing prenatal diagnostics.