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Open AccessArticle

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

1
Mater Children's Hospital, Raymond Terrace, South Brisbane, QLD 4101, Australia
2
SA Pathology at the Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
3
Genetic Health Queensland, Back Street, off Bramston Terrace, Herston, QLD 4029, Australia
*
Author to whom correspondence should be addressed.
Children 2014, 1(1), 21-30; https://doi.org/10.3390/children1010021
Received: 10 February 2014 / Revised: 8 April 2014 / Accepted: 23 April 2014 / Published: 9 May 2014
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. View Full-Text
Keywords: chromosomal microarray; autistic disorder; autism; Asperger syndrome; Rett syndrome; childhood disintegrative disorder; pervasive developmental disorder-not otherwise specified chromosomal microarray; autistic disorder; autism; Asperger syndrome; Rett syndrome; childhood disintegrative disorder; pervasive developmental disorder-not otherwise specified
MDPI and ACS Style

Mordaunt, D.; Gabbett, M.; Waugh, M.; O'Brien, K.; Heussler, H. Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic. Children 2014, 1, 21-30. https://doi.org/10.3390/children1010021

AMA Style

Mordaunt D, Gabbett M, Waugh M, O'Brien K, Heussler H. Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic. Children. 2014; 1(1):21-30. https://doi.org/10.3390/children1010021

Chicago/Turabian Style

Mordaunt, Dylan; Gabbett, Michael; Waugh, Melanie; O'Brien, Karen; Heussler, Helen. 2014. "Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic" Children 1, no. 1: 21-30. https://doi.org/10.3390/children1010021

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