Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population

2015 ◽  
Vol 45 (8) ◽  
pp. 2323-2328 ◽  
Author(s):  
Watfa Al-Mamari ◽  
Abeer Al-Saegh ◽  
Adila Al-Kindy ◽  
Zandre Bruwer ◽  
Fathiya Al-Murshedi ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Microarray Analysis ◽  
Diagnostic Yield ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Spectrum Disorders

scholarly journals Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

2015 ◽  
Vol 45 (10) ◽  
pp. 3262-3275 ◽  
Author(s):  
Marian Reiff ◽  
Ellen Giarelli ◽  
Barbara A. Bernhardt ◽  
Ebony Easley ◽  
Nancy B. Spinner ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Microarray Analysis ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Spectrum Disorders

scholarly journals Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay

2022 ◽  
Vol 7 (1) ◽  
Author(s):  
Yi Liu ◽  
Yuqiang Lv ◽  
Mehdi Zarrei ◽  
Rui Dong ◽  
Xiaomeng Yang ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Microarray Analysis ◽  
Diagnostic Yield ◽  
Autism Spectrum ◽  
Han Chinese ◽  
Chinese Patients ◽  
European Ancestry ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

AbstractCopy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), the first-tier diagnostic test for individuals with NDDs, has been utilized to detect CNVs in clinical practice, but most reports are still from populations of European ancestry. To contribute more worldwide clinical genomics data, we investigated the genetic etiology of 410 Han Chinese patients with NDDs (151 with autism and 259 with unexplained intellectual disability (ID) and developmental delay (DD)) using CMA (Affymetrix) after G-banding karyotyping. Among all the NDD patients, 109 (26.6%) carried clinically relevant CNVs or uniparental disomies (UPDs), and 8 (2.0%) had aneuploidies (6 with trisomy 21 syndrome, 1 with 47,XXY, 1 with 47,XYY). In total, we found 129 clinically relevant CNVs and UPDs, including 32 CNVs in 30 ASD patients, and 92 CNVs and 5 UPDs in 79 ID/DD cases. When excluding the eight patients with aneuploidies, the diagnostic yield of pathogenic and likely pathogenic CNVs and UPDs was 20.9% for all NDDs (84/402), 3.3% in ASD (5/151), and 31.5% in ID/DD (79/251). When aneuploidies were included, the diagnostic yield increased to 22.4% for all NDDs (92/410), and 33.6% for ID/DD (87/259). We identified a de novo CNV in 14.9% (60/402) of subjects with NDDs. Interestingly, a higher diagnostic yield was observed in females (31.3%, 40/128) compared to males (16.1%, 44/274) for all NDDs (P = 4.8 × 10−4), suggesting that a female protective mechanism exists for deleterious CNVs and UPDs.

scholarly journals What Do Parents Think about Chromosomal Microarray Testing? A Qualitative Report from Parents of Children with Autism Spectrum Disorders

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Lei Xu ◽  
Linda Crane Mitchell ◽  
Alice R. Richman ◽  
Kaitlyn Clawson
Keyword(s):  
Autism Spectrum Disorders ◽  
Genetic Testing ◽  
Copy Number Variants ◽  
Cultural Influences ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Eastern Region ◽  
Children With Asd ◽  
Spectrum Disorders

Background. Chromosomal Microarray Analysis (CMA) is increasingly utilized to detect copy number variants among children and families affected with autism spectrum disorders (ASD). However, CMA is controversial due to possible ambiguous test findings, uncertain clinical implications, and other social and legal issues related to the test.Methods. Participants were parents of children with ASD residing in the North Eastern region of North Carolina, USA. We conducted individual, face-to-face interviews with 45 parents and inquired about their perceptions of CMA.Results. Three major themes dominated parents’ perceptions of CMA. None of the parents had ever heard of the test before and the majority of the parents postulated positive attitudes toward the test. Parents’ motivations in undergoing the test were attributed to finding a potential cause of ASD, to being better prepared for having another affected child, and to helping with future reproductive decisions. Perceived barriers included the cost of testing, risk/pain of CMA testing, and fear of test results.Conclusion. This study contributes to the understanding of psychosocial aspects and cultural influences towards adoption of genetic testing for ASD in clinical practice. Genetic education can aid informed decision-making related to CMA genetic testing among parents of children with ASD.

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