Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications

Karen Wou; Brynn Levy; Ronald J Wapner

doi:10.1016/j.cll.2016.01.017

Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications

Clin Lab Med. 2016 Jun;36(2):261-76. doi: 10.1016/j.cll.2016.01.017. Epub 2016 Mar 28.

Authors

Karen Wou¹, Brynn Levy², Ronald J Wapner³

Affiliations

¹ Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, 3959 Broadway, CHN 718, New York, NY 10032, USA.
² Department of Pathology and Cell Biology, Columbia University Medical Center, 3959 Broadway, CHC 406b, New York, NY 10032, USA.
³ 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.

PMID: 27235911
DOI: 10.1016/j.cll.2016.01.017

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.

Keywords: Cell-free DNA; Copy number variant; Genetic counseling; Microarray; Microdeletion; Microduplication.

Publication types

Review

MeSH terms

Chromosome Deletion*
Chromosome Duplication*
Female
Genetic Counseling
Humans
Karyotyping / methods
Oligonucleotide Array Sequence Analysis / methods*
Polymorphism, Single Nucleotide
Pregnancy
Prenatal Diagnosis / methods*