Perinatology.  2022 Sep;33(3):121-126. 10.14734/PN.2022.33.3.121.

Chromosomal Microarray Analysis and Pre natal Diagnosis: What Obstetricians Should Know

• Son H
• Choi ES
• Ju Y
• Park JS
• Lee SM

• KMID: 2533887
• DOI: http://doi.org/10.14734/PN.2022.33.3.121

Abstract

Chromosomal microarray (CMA) is a high-resolution technique that can analyze the entire genome and can detect submicroscopic aberration. CMA can be performed in prenatal settings by using fetal DNA. Compared to conventional karyotyping, CMA has higher resolution and can find out abnormalities of less than 5 mega-base-pair in size. Fluorescence in situ hybridization and polymerase chain reaction analysis are also widely used techniques for detecting submicroscopic aberration but have limitations in that they can detect only a specific target gene. The test can be performed with a small amount of tissue, cells, and even with stored tissue. In most cases, we can get results within a few days without culturing cells. We can also derive accurate results using an objective platform and database. CMA can be recommended when one or more structural abnormalities are noted in ultrasonography or when genetic analysis of intrauterine fetal death or stillbirth is required. CMA results are classified into five categories: benign, likely benign, variant of uncertain significance, likely pathogenic, and pathogenic. In the prenatal setting, performing CMA should be decided with full consideration of the clinical situation. Information about CMA test should be provided to all patients who undergo the invasive prenatal test. Before conducting the test, patients should also be informed about the limitations of the test. When the test is performed, sufficient counseling about results offered by medical specialists is required. Obstetricians need to be well prepared to provide patients with sufficient information and consultation about CMA.

Keyword

Chromosomal microarray; Prenatal diagnosis; Chromosome aberrations; Copy number variation