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.

中文翻译：

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产前基因诊断光学基因组图谱的前瞻性研究

背景 光学基因组图谱 (OGM) 是一种用于检测结构变异 (SV) 的新型检测方法，并对其性能进行了回顾性评估。然而，其在产前诊断中的前瞻性评价尚未见报道。本研究旨在前瞻性评估产前诊断中 OGM 与护理标准 (SOC) 测试的技术一致性。方法 本研究纳入了 204 名孕妇的前瞻性队列。这些女性的羊水样本接受了 OGM 和 SOC 测试，其中包括并行的染色体微阵列分析 (CMA) 和核型分析 (KT)。评估了 OGM 的诊断率，并评估了 OGM 和 SOC 测试之间的技术一致性。结果 OGM 成功分析了 204 个培养的羊水细胞样本，即使细胞计数低至 24 万个。通过 OGM 和 SOC 组合测试，总共识别出了 60 个可报告的 SV，其中所有 3 种技术检测到了 22 个 SV。 OGM、CMA 和 KT 的诊断率分别为 25% (51/204)、22.06% (45/204) 和 18.14% (37/204)。当 OGM 和 KT 一起使用时，诊断率最高（29.41%，60/204）。在这项队列研究中，OGM 与 CMA 的一致性为 95.56%，与 KT 的一致性为 75.68%。结论 我们的研究结果表明，OGM 可以有效地应用于培养羊水细胞的产前诊断，并且与 SOC 测试表现出高度的一致性。 OGM 和 KT 的联合使用似乎能产生最有希望的诊断结果。