title: Copy number variants, aneuploidies, and human disease.
abstract: In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), clinicians are learning the significant role that these types of genomic variants play in human disease and their high frequency in ∼ 1% of all pregnancies. This article highlights key aspects of CNV detection and interpretation used during the course of clinical care in the prenatal and neonatal periods. Early diagnosis and accurate interpretation are important for targeted clinical management.
authors.affiliation: Geisinger Health System, Autism & Developmental Medicine Institute, 120 Hamm Drive, Lewisburg, PA 17837, USA. Electronic address: clmartin1@geisinger.edu.
authors.forename: Christa Lese
authors.initials: CL
authors.lastname: Martin
authors.affiliation: Geisinger Health System, Autism & Developmental Medicine Institute, 120 Hamm Drive, Lewisburg, PA 17837, USA.
authors.forename: Brianne E
authors.initials: BE
authors.lastname: Kirkpatrick
authors.affiliation: Geisinger Health System, Autism & Developmental Medicine Institute, 120 Hamm Drive, Lewisburg, PA 17837, USA.
authors.forename: David H
authors.initials: DH
authors.lastname: Ledbetter
mesh_terms: D000782:Aneuploidy; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics*; D056915:DNA Copy Number Variations; D005820:Genetic Testing / Q000379:methods*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn
keywords: Aneuploidy; CNV; Chromosomal microarray; Copy number variant; Genomic databases; Neonatal; Noninvasive prenatal testing; Prenatal