Fig. 1

Flowchart of copy-number variant (CNV) analysis by low-pass genome sequencing (GS) versus chromosomal microarray (CMA) in 1023 prenatal cases. All samples were referred to one of two prenatal diagnostic centers, and after exclusion of maternal cell admixture and polyploidy by quantitative fluorescence polymerase chain reaction (QF-PCR) with short tandem repeat (STR) markers, CNV analysis was performed by low-pass GS and CMA in parallel. Detailed methods and results are described in the main text. ^aThree cases with aneuploidy and pathogenic/likely pathogenic (P/LP) CNV were detected simultaneously. VOUS variants of uncertain significance.