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

Children

Dylan Mordaunt²  Michael Gabbett¹  Melanie Waugh²  Karen O𠆛rien² 

[1] Genetic Health Queensland, Back Street, off Bramston Terrace, Herston, QLD 4029, Australia; E-Mail:;Mater Children’s Hospital, Raymond Terrace, South Brisbane, QLD 4101, Australia; E-Mails:

关键词: chromosomal microarray;    autistic disorder;    autism;    Asperger syndrome;    Rett syndrome;    childhood disintegrative disorder;    pervasive developmental disorder-not otherwise specified;   

DOI  :  10.3390/children1010021

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.