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Use of chromosomal microarray in obstetrics

David T Miller, MD, PhD
Section Editor
Louise Wilkins-Haug, MD, PhD
Deputy Editor
Vanessa A Barss, MD, FACOG


Prenatal diagnosis and postnatal evaluation of pregnancy loss often involves cytogenetic analysis of amniocytes, chorionic villi, or fetal cells. Although conventional Giemsa(G)-banding of metaphase chromosomes detects aneuploidies and large structural changes (eg, balanced or unbalanced translocations, inversions), this approach also has limitations: it does not consistently identify submicroscopic (ie, smaller than what is visible under a light microscope) genomic defects (<3 to 10 million base pairs [Mb]) and requires cell culture, which takes a minimum of seven days to obtain an adequate number of dividing cells. The use of fluorescence in situ hybridization (FISH) reduces the time to obtain a result and is less labor intensive, but can only detect a limited number of pre-specified targets.

Chromosomal microarray (CMA) is an array-based molecular cytogenic technique that can overcome some limitations of a karyotype, and is particularly useful for its ability to detect submicroscopic gains and losses on every chromosome (figure 1). This technique compares the genomic content (DNA) of a patient (target) with that of a normal control individual (or individuals) and detects gains and losses (duplications and deletions) ranging in size from very large, including aneuploidy of entire chromosomes, to very small (typically as small as about 200,000 base pairs or 0.2 Mb). Gains and losses may correspond to structural changes such as unbalanced translocations), but CMA cannot detect the physical location of the extra material (as in a translocation) nor can it detect structural chromosome changes that do not result in deletions or duplications (eg, balanced translocations or balanced inversions).

Different laboratories perform CMA using different technology platforms and with different array design and content [1-7].

This topic will discuss the use of CMA in obstetrics. Basic principles of genetics are reviewed separately, and include:

(See "Basic principles of genetic disease".)

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Literature review current through: Sep 2017. | This topic last updated: Dec 19, 2016.
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