Journal article
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
American journal of human genetics, v 86(5), pp 749-764
14 May 2010
PMID: 20466091
Featured in Collection : UN Sustainable Development Goals @ Drexel
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 (similar to 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.
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Details
- Title
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- Creators
- David T. Miller - Harvard Medical SchoolMargaret P. Adam - Emory UniversitySwaroop Aradhya - GeneDxLeslie G. Biesecker - National Human Genome Research InstituteArthur R. Brothman - ARUP Laboratories (United States)Nigel P. Carter - Wellcome Sanger InstituteDeanna M. Church - National Center for Biotechnology InformationJohn A. Crolla - National Genetics Reference Laboratory (Wessex), Salisbury, UK.Evan E. Eichler - Howard Hughes Medical InstituteCharles J. Epstein - University of California, San FranciscoW. Andrew Faucett - Emory UniversityLars Feuk - Uppsala UniversityJan M. Friedman - University of British ColumbiaAda Hamosh - Johns Hopkins University School of MedicineLaird Jackson - Drexel UniversityErin B. Kaminsky - Emory UniversityKlaas Kok - University of GroningenIan D. Krantz - Children's Hospital of PhiladelphiaRobert M. Kuhn - University of California, Santa CruzCharles Lee - Brigham and Women's HospitalJames M. Ostell - National Center for Biotechnology InformationCarla Rosenberg - Universidade Estadual Paulista (Unesp)Stephen W. Scherer - Genomics (United Kingdom)Nancy B. Spinner - Children's Hospital of PhiladelphiaDimitri J. Stavropoulos - Hospital for Sick ChildrenJames H. Tepperberg - Research Triangle Park FoundationErik C. Thorland - Mayo ClinicJoris R. Vermeesch - KU LeuvenDarrel J. Waggoner - University of ChicagoMichael S. Watson - American College of Medical GeneticsChrista Lese Martin - Emory UniversityDavid H. Ledbetter - Emory University
- Publication Details
- American journal of human genetics, v 86(5), pp 749-764
- Publisher
- Elsevier
- Number of pages
- 16
- Grant note
- R01MH074090 / NATIONAL INSTITUTE OF MENTAL HEALTH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Mental Health (NIMH) RC2FID064525; MH074090 / National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA ACMG Foundation Luminex ZIAHG200328 / NATIONAL HUMAN GENOME RESEARCH INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) 137578 / Simons Foundation RC2HD064525 / EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000278045300011
- Scopus ID
- 2-s2.0-77952032690
- Other Identifier
- 991019350595804721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity