Min Xie, Zhao-Jing Zheng, Ying Zhou, Yu-Xin Zhang, Qiong Li, Li-Yun Tian, Juan Cao, Yan-Ting Xu, Jie Ren, Qi Yu, Shan-Shan Wu, Shu Fang, Dan-Yan Zhuang, Juan Geng, Chang-Shui Chen, Hai-Bo Li
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...
March 22, 2024: Clinical Chemistry