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Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders

Educational Objective
To understand who should be tested using chromosome microarray analysis and what is learned from this testing.
1 Credit CME

Quiz Ref IDChildren with neurodevelopmental disorders, including developmental delay, intellectual disability, autism spectrum disorder (ASD), or congenital anomalies may have genetic abnormalities that traditionally were detected using G-banded karyotype analysis. Karyotyping identifies clinically relevant genetic abnormalities in approximately 5% of children with these disorders.1 However, karyotyping has now been replaced by chromosomal microarray analysis (CMA), which detects unbalanced chromosomal rearrangements like G-banded karotyping but also detects smaller chromosome abnormalities, increasing the diagnostic yield to approximately 20% of patients.1,2 Because of its greater sensitivity, CMA tests should now be considered by any clinician evaluating a child with otherwise unexplained developmental delay, intellectual disability, ASD, or congenital anomalies (Audio) (Figure).

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Article Information

Corresponding Author: David H. Ledbetter, PhD, 100 N Academy Ave, MC 22-01, Danville, PA 17822-2201 (dhledbetter@geisinger.edu).

Conflict of Interest Disclosures: Both authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.

Funding/Support: Funded in part by the National Institute for Mental Health (NIMH; RO1MH074090).

Role of the Funder/Sponsor: NIMH had no role in the preparation, review, or approval of the manuscript; and decision to submit it for publication.

Additional Contribution: We thank Brian Bunke, BS, EGL Genetics, Eurofins Clinical Diagnostics, for providing the array and G-band images. No compensation was received.

References
1.
Miller  DT, Adam  MP, Aradhya  S,  et al.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.  Am J Hum Genet. 2010;86(5):749-764.PubMedGoogle ScholarCrossref
2.
Tammimies  K, Marshall  CR, Walker  S,  et al.  Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder.  JAMA. 2015;314(9):895-903.PubMedGoogle ScholarCrossref
3.
Kearney  HM, South  ST, Wolff  DJ,  et al.  American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.  Genet Med. 2011;13(7):676-679.PubMedGoogle ScholarCrossref
4.
Bassett  AS, McDonald-McGinn  DM, Devriendt  K,  et al.  Practical guidelines for managing patients with 22q11.2 deletion syndrome.  J Pediatr. 2011;159(2):332-339.e1.PubMedGoogle ScholarCrossref
5.
Fung  WL, Butcher  NJ, Costain  G,  et al.  Practical guidelines for managing adults with 22q11.2 deletion syndrome.  Genet Med. 2015;17(8):599-609.PubMedGoogle ScholarCrossref
6.
Trakadis  Y, Shevell  M.  Microarray as a first genetic test in global developmental delay.  Dev Med Child Neurol. 2011;53(11):994-999.PubMedGoogle ScholarCrossref
7.
Manning  M, Hudgins  L,  et al.  Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.  Genet Med. 2010;12(11):742-745.PubMedGoogle ScholarCrossref
8.
Moeschler  JB, Shevell  M.  Comprehensive evaluation of the child with intellectual disability or global developmental delays.  Pediatrics. 2014;134(3):e903-e918.PubMedGoogle ScholarCrossref
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