Childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort

Abstract

To establish and follow up a Victorian cohort of children who had a prenatal diagnosis of a genomic copy number variant from 2013-2019. Children aged 12 months to 7 years will be assessed for developmental, social-emotional and health outcomes using validated, age-appropriate measures.

Objectives: 1. To compare the developmental, social-emotional and health status of children with prenatal CNVs to children with normal prenatal CMA results. 2. To measure the impact of a prenatal diagnosis of a VUS on parental perceptions of their child. 3. To determine the proportion of prenatally-ascertained VUS that are reclassified as benign or pathogenic after 2 or more years.