Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

CNV-plus detected 56 AOH regions compared with 65 by chromosomal microarray analysis, yielding 68 matched segments.

Genome-wide overlap was high (global Jaccard index = 0.871), although boundary resolution differed between methods.

At the sample level, CNV-plus achieved 97.1% sensitivity and 100% specificity, with no significant difference from chromosomal microarray analysis.