Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing

Sahajpal, Nikhil; Mondal, Ashis; Fee, Timothy; Hilton, Benjamin; Layman, Lawrence C.; Hastie, Alex; Chaubey, Alka; DuPont, Barbara R.; Kolhe, Ravindra

doi:10.1016/j.jmoldx.2023.01.006

Cited by 12 publications

(14 citation statements)

References 27 publications

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“…The turnaround time (TAT) for OGM for prenatal samples was therefore limited to 14–16 days from cell culture to reporting, which is comparable to karyotyping (15–20 days) but slower than CMA (9–14 days). Recently, Sahajpal et al reported a faster TAT (10–14 days) for OGM using frozen amniotic‐fluid cell lines from retrospective cases, comparable to CMA 20 . They reported that 0.4 million cultured cells passed the minimum quality control metric and showed robust results with high molecule size, labeling density, and map rate 20 .…”

Section: Discussionmentioning

confidence: 99%

“…Recently, Sahajpal et al reported a faster TAT (10–14 days) for OGM using frozen amniotic‐fluid cell lines from retrospective cases, comparable to CMA 20 . They reported that 0.4 million cultured cells passed the minimum quality control metric and showed robust results with high molecule size, labeling density, and map rate 20 . The reduction in the number of cells required means a corresponding reduction in culture time.…”

Section: Discussionmentioning

confidence: 99%

“…20 They reported that 0.4 million cultured cells passed the minimum quality control metric and showed robust results with high molecule size, labeling density, and map rate. 20 The reduction in the number of cells required means a corresponding reduction in culture time. Therefore, it is very likely that the TAT of OGM will be further reduced, aiding the future clinical application of OGM.…”

Section: Complex Casesmentioning

confidence: 99%

“…To date, only a few studies have shown that OGM has high (~100%) concordance with SOC methods. 20,21 However, evidence supporting the clinical feasibility of OGM for the detection of chromosomal aberrations is far from sufficient, and its true detection efficacy is still unknown.…”

Section: Introductionmentioning

confidence: 99%

“…Although OGM is a next‐generation cytogenetic technology with a resolution higher than SOC methods, able to detect all classes of chromosomal aberrations in a single assay, studies on its application in prenatal diagnosis settings remain limited. To date, only a few studies have shown that OGM has high (~100%) concordance with SOC methods 20,21 . However, evidence supporting the clinical feasibility of OGM for the detection of chromosomal aberrations is far from sufficient, and its true detection efficacy is still unknown.…”

Section: Introductionmentioning

confidence: 99%

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Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Zhang

Wang

et al. 2023

Acta Obstet Gynecol Scand

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Introduction: Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical feasibility studies of optical genome mapping in prenatal diagnosis are limited. Material and methods: We retrospectively performed optical genome mapping analysis of amniotic fluid samples from 34 fetuses with various clinical indications and chromosomal aberrations detected through standard-of-care technologies, including karyotyping, fluorescence in situ hybridization, and/or chromosomal microarray analysis. Results: In total, we analyzed 46 chromosomal aberrations from 34 amniotic fluid samples, including 5 aneuploidies, 10 large copy number variations, 27 microdeletions/microduplications, 2 translocations, 1 isochromosome, and 1 region of homozygosity. Overall, 45 chromosomal aberrations could be confirmed by our customized analysis strategy. Optical genome mapping reached 97.8% concordant clinical diagnosis with standard-of-care methods for all chromosomal aberrations in a blinded fashion. Compared with the widely used chromosomal microarray analysis, optical genome mapping additionally determined the relative orientation and position of repetitive segments for seven cases with duplications or triplications. The additional information provided by optical genome mapping will be conducive to characterizing complex chromosomal rearrangements and allowing us to propose mechanisms to explain rearrangements and predict the genetic recurrence risk.Conclusions: Our study highlights that optical genome mapping can provide comprehensive and accurate information on chromosomal aberrations in a single test,

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%