1. Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis.
- Author
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Xie M, Zheng ZJ, Zhou Y, Zhang YX, Li Q, Tian LY, Cao J, Xu YT, Ren J, Yu Q, Wu SS, Fang S, Zhuang DY, Geng J, Chen CS, and Li HB
- Subjects
- Humans, Female, Pregnancy, Prospective Studies, Adult, Karyotyping, Chromosome Mapping, Amniotic Fluid chemistry, Amniotic Fluid cytology, Prenatal Diagnosis methods
- Abstract
Background: Optical genome mapping (OGM) is a novel assay for detecting structural variants (SVs) and has been retrospectively evaluated for its performance. However, its prospective evaluation in prenatal diagnosis remains unreported. This study aimed to prospectively assess the technical concordance of OGM with standard of care (SOC) testing in prenatal diagnosis., Methods: A prospective cohort of 204 pregnant women was enrolled in this study. Amniotic fluid samples from these women were subjected to OGM and SOC testing, which included chromosomal microarray analysis (CMA) and karyotyping (KT) in parallel. The diagnostic yield of OGM was evaluated, and the technical concordance between OGM and SOC testing was assessed., Results: OGM successfully analyzed 204 cultured amniocyte samples, even with a cell count as low as 0.24 million. In total, 60 reportable SVs were identified through combined OGM and SOC testing, with 22 SVs detected by all 3 techniques. The diagnostic yield for OGM, CMA, and KT was 25% (51/204), 22.06% (45/204), and 18.14% (37/204), respectively. The highest diagnostic yield (29.41%, 60/204) was achieved when OGM and KT were used together. OGM demonstrated a concordance of 95.56% with CMA and 75.68% with KT in this cohort study., Conclusions: Our findings suggest that OGM can be effectively applied in prenatal diagnosis using cultured amniocytes and exhibits high concordance with SOC testing. The combined use of OGM and KT appears to yield the most promising diagnostic outcomes., (© Association for Diagnostics & Laboratory Medicine 2024.)
- Published
- 2024
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