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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.


ABSTRACT: Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype ( approximately 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.

SUBMITTER: Miller DT 

PROVIDER: S-EPMC2869000 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller David T DT   Adam Margaret P MP   Aradhya Swaroop S   Biesecker Leslie G LG   Brothman Arthur R AR   Carter Nigel P NP   Church Deanna M DM   Crolla John A JA   Eichler Evan E EE   Epstein Charles J CJ   Faucett W Andrew WA   Feuk Lars L   Friedman Jan M JM   Hamosh Ada A   Jackson Laird L   Kaminsky Erin B EB   Kok Klaas K   Krantz Ian D ID   Kuhn Robert M RM   Lee Charles C   Ostell James M JM   Rosenberg Carla C   Scherer Stephen W SW   Spinner Nancy B NB   Stavropoulos Dimitri J DJ   Tepperberg James H JH   Thorland Erik C EC   Vermeesch Joris R JR   Waggoner Darrel J DJ   Watson Michael S MS   Martin Christa Lese CL   Ledbetter David H DH  

American journal of human genetics 20100501 5


Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, includi  ...[more]

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