scholarly journals The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening

2018 ◽  
Vol 38 (10) ◽  
pp. 730-734 ◽  
Author(s):  
Mark I. Evans ◽  
Stephanie Andriole ◽  
Jenifer Curtis ◽  
Shara M. Evans ◽  
Alan A. Kessler ◽  
...  
Keyword(s):  
Copy Number ◽  
Prenatal Screening ◽  
Copy Number Variant ◽  
Noninvasive Prenatal Screening ◽  
Abnormal Copy Number

scholarly journals Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

2019 ◽  
Vol 21 (12) ◽  
pp. 2774-2780
Author(s):  
Nathalie Brison ◽  
Jazz Storms ◽  
Darine Villela ◽  
Kristl G. Claeys ◽  
Luc Dehaspe ◽  
...  
Keyword(s):  
Copy Number ◽  
Prenatal Screening ◽  
Copy Number Variations ◽  
Secondary Findings ◽  
Noninvasive Prenatal Screening ◽  
Dmd Gene

44. Reevaluation of copy number variant (CNV) classifications in the clinical laboratory setting: challenges, insights, and experiences with a laboratory-initiated process

2021 ◽  
Vol 252-253 ◽  
pp. S15
Author(s):  
Denise I Quigley ◽  
Zoe K Lewis ◽  
Timothy Tidwell ◽  
Adam Clayton ◽  
Brandon Chandler ◽  
...  
Keyword(s):  
Copy Number ◽  
Clinical Laboratory ◽  
Copy Number Variant ◽  
Laboratory Setting

scholarly journals Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes

2019 ◽  
Vol 105 (4) ◽  
pp. 384-389 ◽  
Author(s):  
Adam Jackson ◽  
Heather Ward ◽  
Rebecca Louise Bromley ◽  
Charulata Deshpande ◽  
Pradeep Vasudevan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Copy Number ◽  
Developmental Disorders ◽  
Drug Exposure ◽  
Genetic Disorders ◽  
Copy Number Variants ◽  
Copy Number Variant ◽  
In Utero ◽  
Developmental Problems ◽  
Number Of Children

IntroductionFetal anticonvulsant syndrome (FACS) describes the pattern of physical and developmental problems seen in those children exposed to certain antiepileptic drugs (AEDs) in utero. The diagnosis of FACS is a clinical one and so excluding alternative diagnoses such as genetic disorders is essential.MethodsWe reviewed the pathogenicity of reported variants identified on exome sequencing in the Deciphering Developmental Disorders (DDD) Study in 42 children exposed to AEDs in utero, but where a diagnosis other than FACS was suspected. In addition, we analysed chromosome microarray data from 10 patients with FACS seen in a Regional Genetics Service.ResultsSeven children (17%) from the DDD Study had a copy number variant or pathogenic variant in a developmental disorder gene which was considered to explain or partially explain their phenotype. Across the AED exposure types, variants were found in 2/15 (13%) valproate exposed cases and 3/14 (21%) carbamazepine exposed cases. No pathogenic copy number variants were identified in our local sample (n=10).ConclusionsThis study is the first of its kind to analyse the exomes of children with developmental disorders who were exposed to AEDs in utero. Though we acknowledge that the results are subject to bias, a significant number of children were identified with alternate diagnoses which had an impact on counselling and management. We suggest that consideration is given to performing whole exome sequencing as part of the diagnostic work-up for children exposed to AEDs in utero.

scholarly journals Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

2010 ◽  
Vol 87 (5) ◽  
pp. 618-630 ◽  
Author(s):  
Daniel Moreno-De-Luca ◽  
Jennifer G. Mulle ◽  
Erin B. Kaminsky ◽  
Stephan J. Sanders ◽  
Scott M. Myers ◽  
...  
Keyword(s):  
High Risk ◽  
Copy Number ◽  
Copy Number Variant
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