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The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis

Authors :
Brynn Levy
Melissa Stosic
Ronald J. Wapner
Source :
Obstetrics and gynecology clinics of North America. 45(1)
Publication Year :
2018

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.

Details

ISSN :
15580474
Volume :
45
Issue :
1
Database :
OpenAIRE
Journal :
Obstetrics and gynecology clinics of North America
Accession number :
edsair.doi.dedup.....f415cf90cfe80d4551a3c12217b0468e