The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis

Melissa Stosic; Brynn Levy; Ronald Wapner

doi:10.1016/j.ogc.2017.10.002

The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis

Obstet Gynecol Clin North Am. 2018 Mar;45(1):55-68. doi: 10.1016/j.ogc.2017.10.002. Epub 2017 Dec 9.

Authors

Melissa Stosic¹, Brynn Levy², Ronald Wapner³

Affiliations

¹ Department of Obstetrics and Gynecology, Columbia University Medical Center, 622 West 168th Street, New York, NY 10032, USA.
² Department of Pathology and Cell Biology, Columbia University Medical Center, 622 West 168th Street, New York, NY 10032, USA.
³ Department of Obstetrics and Gynecology, Columbia University Medical Center, 622 West 168th Street, New York, NY 10032, USA. Electronic address: rw2191@cumc.columbia.edu.

PMID: 29428286
DOI: 10.1016/j.ogc.2017.10.002

Abstract

Chromosomal microarray analysis (CMA) identifies microdeletions and duplications undetected on karyotype analysis. Copy number variants (CNVs) occur in 1% to 1.7% of all pregnancies, with clinical implications. All women undergoing invasive testing for routine indications should be offered microarray. Clinically significant CNVs are seen in approximately 6% of pregnancies with ultrasound anomalies, making CMAs the current standard of cytogenomic analysis. Clinicians should be familiar with different technologies and laboratory reporting practices. Pretest counseling is imperative and, when CMA results are abnormal, posttest counseling should be in-depth and conducted by a genetic counselor or clinical geneticist.

Keywords: Array CGH; Chromosomal microarray; Prenatal array; Prenatal diagnosis.

Publication types

Review

MeSH terms

Chromosome Aberrations
Chromosome Disorders / diagnosis*
Chromosome Disorders / genetics
Female
Genetic Testing / methods*
Humans
Microarray Analysis*
Pregnancy
Prenatal Diagnosis / methods*