Prenatal Microarray Analysis of Pregnancies Without Ultrasound Anomalies: Establishment of Copy Number and Homozygosity Frequencies in Low-Risk Population

Overall, these findings provide a better estimate of the baseline frequencies and types of pathogenic CNVs and homozygosity in a low-risk population. It provides insight into the distribution of stretches of homozygosity associated with identity by descent in this population and gives a better understanding of the extent of variants of uncertain significance in phenotypically unaffected individuals.