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....
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2014-05-01
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| Series: | Children |
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| Online Access: | http://www.mdpi.com/2227-9067/1/1/21 |
| _version_ | 1818623489683226624 |
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| author | Dylan Mordaunt Michael Gabbett Melanie Waugh Karen O'Brien Helen Heussler |
| author_facet | Dylan Mordaunt Michael Gabbett Melanie Waugh Karen O'Brien Helen Heussler |
| author_sort | Dylan Mordaunt |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-16T18:41:53Z |
| format | Article |
| id | doaj.art-ecb6708798c04ed08dd3103874106de5 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-12-16T18:41:53Z |
| publishDate | 2014-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-ecb6708798c04ed08dd3103874106de52022-12-21T22:21:00ZengMDPI AGChildren2227-90672014-05-0111213010.3390/children1010021children1010021Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development ClinicDylan Mordaunt0Michael Gabbett1Melanie Waugh2Karen O'Brien3Helen Heussler4Mater Children's Hospital, Raymond Terrace, South Brisbane, QLD 4101, AustraliaGenetic Health Queensland, Back Street, off Bramston Terrace, Herston, QLD 4029, AustraliaMater Children's Hospital, Raymond Terrace, South Brisbane, QLD 4101, AustraliaMater Children's Hospital, Raymond Terrace, South Brisbane, QLD 4101, AustraliaMater Children's Hospital, Raymond Terrace, South Brisbane, QLD 4101, AustraliaAutism 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.http://www.mdpi.com/2227-9067/1/1/21chromosomal microarrayautistic disorderautismAsperger syndromeRett syndromechildhood disintegrative disorderpervasive developmental disorder-not otherwise specified |
| spellingShingle | Dylan Mordaunt Michael Gabbett Melanie Waugh Karen O'Brien Helen Heussler Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic Children chromosomal microarray autistic disorder autism Asperger syndrome Rett syndrome childhood disintegrative disorder pervasive developmental disorder-not otherwise specified |
| 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 | chromosomal microarray autistic disorder autism Asperger syndrome Rett syndrome childhood disintegrative disorder pervasive developmental disorder-not otherwise specified |
| url | http://www.mdpi.com/2227-9067/1/1/21 |
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