Optical genome mapping for prenatal diagnosis: A prospective study

•OGM can be performed on cell cultures from prenatal samples.•OGM detects all cytogenetic abnormalities identified by karyotype and chromosomal microarray.•OGM identifies small additional structural variations that may be clinically significant.•The combined use of OGM and exome sequencing will sign...

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Published in:Clinica chimica acta 2023-11, Vol.551, p.117594-117594, Article 117594
Main Authors: Goumy, Carole, Guy Ouedraogo, Zangbéwendé, Soler, Gwendoline, Eymard-Pierre, Eleonore, Laurichesse, Hélène, Delabaere, Amélie, Gallot, Denis, Bouchet, Pamela, Perthus, Isabelle, Pebrel-Richard, Céline, Gouas, Laetitia, Salaun, Gaëlle, Salse, Jérôme, Véronèse, Lauren, Tchirkov, Andrei
Format: Article
Language:English
Subjects:
Chromosome Aberrations
Chromosome Mapping
Cytogenetic Analysis
Female
Humans
Karyotyping
Life Sciences
Optical genome mapping
Pregnancy
Prenatal Diagnosis
Prospective Studies
Prospective study
Retrospective Studies
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Summary:•OGM can be performed on cell cultures from prenatal samples.•OGM detects all cytogenetic abnormalities identified by karyotype and chromosomal microarray.•OGM identifies small additional structural variations that may be clinically significant.•The combined use of OGM and exome sequencing will significantly increase the diagnostic yield in the prenatal setting. 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. 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. 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 (
ISSN:0009-8981
1873-3492
DOI:10.1016/j.cca.2023.117594