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Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic

Autism is an etiologically heterogeneous developmental disorder for which the range of genetic investigations has expanded considerably over the past decade. Introduction of chromosomal microarray (CMA) to clinical practice has expanded the range of conditions which pediatricians are able to detect....

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Autores principales: Mordaunt, Dylan, Gabbett, Michael, Waugh, Melanie, O’Brien, Karen, Heussler, Helen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939515/
https://www.ncbi.nlm.nih.gov/pubmed/27417464
http://dx.doi.org/10.3390/children1010021
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author Mordaunt, Dylan
Gabbett, Michael
Waugh, Melanie
O’Brien, Karen
Heussler, Helen
author_facet Mordaunt, Dylan
Gabbett, Michael
Waugh, Melanie
O’Brien, Karen
Heussler, Helen
author_sort Mordaunt, Dylan
collection PubMed
description Autism is an etiologically heterogeneous developmental disorder for which the range of genetic investigations has expanded considerably over the past decade. Introduction of chromosomal microarray (CMA) to clinical practice has expanded the range of conditions which pediatricians are able to detect. This study reviewed the utilization, yield and cost of genetic investigations in a sample of children with pervasive developmental disorders (PDD) in an Australian metropolitan child development service. Six hundred and ninety eight patients with PDD were identified from the clinic population. One hundred and ten (15.7%) of the clinic population had undergone investigation with chromosomal microarray, 140 (20.0%) with karyotype (KT), and 167 (23.9%) with Fragile X testing (FRGX). Twelve (10.9%) CMA findings were reported, of which seven (6.3%) were felt to be the likely cause of the child’s clinical features. Five (3.5%) KT findings were reported, of which four (2.9%) were felt to be the likely cause of the child’s clinical features. Two patients (1.2%) were identified with Fragile X expansions. One fifth of the clinic’s recent PDD population had undergone testing with CMA. CMA appears to have increased the diagnostic yield of the genetic investigation of autism, in line with internationally reported levels. Number needed to test (NNT) and cost per incremental diagnosis, were also in line with internationally reported levels.
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spelling pubmed-49395152016-07-12 Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic Mordaunt, Dylan Gabbett, Michael Waugh, Melanie O’Brien, Karen Heussler, Helen Children (Basel) Article Autism is an etiologically heterogeneous developmental disorder for which the range of genetic investigations has expanded considerably over the past decade. Introduction of chromosomal microarray (CMA) to clinical practice has expanded the range of conditions which pediatricians are able to detect. This study reviewed the utilization, yield and cost of genetic investigations in a sample of children with pervasive developmental disorders (PDD) in an Australian metropolitan child development service. Six hundred and ninety eight patients with PDD were identified from the clinic population. One hundred and ten (15.7%) of the clinic population had undergone investigation with chromosomal microarray, 140 (20.0%) with karyotype (KT), and 167 (23.9%) with Fragile X testing (FRGX). Twelve (10.9%) CMA findings were reported, of which seven (6.3%) were felt to be the likely cause of the child’s clinical features. Five (3.5%) KT findings were reported, of which four (2.9%) were felt to be the likely cause of the child’s clinical features. Two patients (1.2%) were identified with Fragile X expansions. One fifth of the clinic’s recent PDD population had undergone testing with CMA. CMA appears to have increased the diagnostic yield of the genetic investigation of autism, in line with internationally reported levels. Number needed to test (NNT) and cost per incremental diagnosis, were also in line with internationally reported levels. MDPI 2014-05-09 /pmc/articles/PMC4939515/ /pubmed/27417464 http://dx.doi.org/10.3390/children1010021 Text en © 2014 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Article
Mordaunt, Dylan
Gabbett, Michael
Waugh, Melanie
O’Brien, Karen
Heussler, Helen
Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic
title Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic
title_full Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic
title_fullStr Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic
title_full_unstemmed Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic
title_short Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic
title_sort uptake and diagnostic yield of chromosomal microarray in an australian child development clinic
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939515/
https://www.ncbi.nlm.nih.gov/pubmed/27417464
http://dx.doi.org/10.3390/children1010021
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