Uptake and diagnostic yield of chromosomal microarray in an Australian child development clinic

Dylan Mordaunt, Michael Gabbett, Melanie Waugh, Karen O’Brien, Helen Heussler

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)
15 Downloads (Pure)

Abstract

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.

Original languageEnglish
Pages (from-to)21-30
Number of pages10
JournalChildren
Volume1
Issue number1
DOIs
Publication statusPublished - 9 May 2014
Externally publishedYes

Keywords

  • Asperger syndrome
  • Autism
  • Autistic disorder
  • Childhood disintegrative disorder
  • Chromosomal microarray
  • Pervasive developmental disorder-not otherwise specified
  • Rett syndrome

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