title: Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications.
abstract: Chromosomal microarray analysis has replaced conventional G-banded karyotype in prenatal diagnosis as the first-tier test for the cytogenetic detection of copy number imbalances in fetuses with/without major structural abnormalities. This article reviews the basic technology of microarray; the value and clinical significance of the detection of microdeletions, microduplications, and other copy number variants; as well as the importance of genetic counseling for prenatal diagnosis. It also discusses the current status of noninvasive screening for some of these microdeletion and microduplication syndromes.
authors.affiliation: Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, 3959 Broadway, CHN 718, New York, NY 10032, USA.
authors.forename: Karen
authors.initials: K
authors.lastname: Wou
authors.affiliation: Department of Pathology and Cell Biology, Columbia University Medical Center, 3959 Broadway, CHC 406b, New York, NY 10032, USA.
authors.forename: Brynn
authors.initials: B
authors.lastname: Levy
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Medical Center, 622 West 168th Street, PH 16-66, New York, NY 10032, USA. Electronic address: rw2191@cumc.columbia.edu.
authors.forename: Ronald J
authors.initials: RJ
authors.lastname: Wapner
mesh_terms: D002872:Chromosome Deletion; D058674:Chromosome Duplication; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
keywords: Cell-free DNA; Copy number variant; Genetic counseling; Microarray; Microdeletion; Microduplication