Related Experiment Video
Updated: Aug 11, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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.
Purpose:
Cytogenetic analysis provides important information for prenatal decision-making and genetic counseling. Optical genome mapping (OGM) has demonstrated its performances in retrospective studies. In our prospective study, we assessed the quality of DNA obtained from cultures of amniotic fluid (AF) and chorionic villi (CV) and evaluated the ability of OGM to detect all clinically relevant aberrations identified by standard methods.
Methods:
A total of 37 prenatal samples from pregnancies with a fetal anomaly on ultrasound were analyzed prospectively by OGM between January 1, 2021 and June 31, 2022. OGM results were interpreted blindly and compared to the results obtained by standard techniques.
Results:
OGM results were interpretable in 92% of samples. We observed 100% concordance between OGM and karyotype and/or chromosomal microarray results. In addition, OGM identified a median of 30 small (<100 kb) structural variations per case with the involvement of 12 OMIM genes, of which 3 were OMIM morbid genes.
Conclusion:
This prospective study showed OGM performed well in detecting genomic alterations in cell cultures from prenatal samples. The place of OGM in relation to CMA or exome sequencing remains to be defined in order to optimize the prenatal diagnostic procedure.
