Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach

2019 ◽  
Vol 46 (2) ◽  
pp. 104-109 ◽  
Author(s):  
Joke Muys ◽  
Bettina Blaumeiser ◽  
Katrien Janssens ◽  
Patrick Loobuyck ◽  
Yves Jacquemyn
Keyword(s):  
Reporting System ◽  
Ethical Issues ◽  
Copy Number Variants ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Evidence Based ◽  
Variant Interpretation ◽  
Parental Anxiety ◽  
Ethical Considerations ◽  
Chorion Villus

Detection of genetic aberrations in prenatal samples, obtained through amniocentesis or chorion villus biopsy, is increasingly performed using chromosomal microarray (CMA), a technique that can uncover both aneuploidies and copy number variants throughout the genome. Despite the obvious benefits of CMA, the decision on implementing the technology is complicated by ethical issues concerning variant interpretation and reporting. In Belgium, uniform guidelines were composed and a shared database for prenatal CMA findings was established. This Belgian approach sparks discussion: it is evidence-based, prevents inconsistencies and avoids parental anxiety, but can be considered paternalistic. Here, we reflect on the cultural and moral bases of the Belgian reporting system of prenatally detected variants.

scholarly journals Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Karen S. Ho ◽  
Hope Twede ◽  
Rena Vanzo ◽  
Erin Harward ◽  
Charles H. Hensel ◽  
...  
Keyword(s):  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
Detection Rate ◽  
Clinical Performance ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Ultrahigh Resolution ◽  
Significant Difference

Copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) significantly contribute to the etiology of neurodevelopmental disorders, such as developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD). This study summarizes the results of 3.5 years of CMA testing by a CLIA-certified clinical testing laboratory 5487 patients with neurodevelopmental conditions were clinically evaluated for rare copy number variants using a 2.8-million probe custom CMA optimized for the detection of CNVs associated with neurodevelopmental disorders. We report an overall detection rate of 29.4% in our neurodevelopmental cohort, which rises to nearly 33% when cases with DD/ID and/or MCA only are considered. The detection rate for the ASD cohort is also significant, at 25%. Additionally, we find that detection rate and pathogenic yield of CMA vary significantly depending on the primary indications for testing, the age of the individuals tested, and the specialty of the ordering doctor. We also report a significant difference between the detection rate on the ultrahigh resolution optimized array in comparison to the array from which it originated. This increase in detection can significantly contribute to the efficient and effective medical management of neurodevelopmental conditions in the clinic.

Incorporating Evaluation and Ethics

2016 ◽  
pp. 219-246
Author(s):  
John C. Norcross ◽  
Thomas P. Hogan ◽  
Gerald P. Koocher ◽  
Lauren A. Maggio
Keyword(s):  
Ethical Issues ◽  
Clinical Performance ◽  
Health Professions ◽  
Evidence Based ◽  
Ethical Considerations ◽  
Administrative Unit ◽  
Ethics Code ◽  
The Individual ◽  
Ebp Implementation ◽  
Liability Standards

The final core step in evidence-based practice (EBP) is evaluating the effectiveness of the entire process: the E(valuation) in the mnemonic AAA TIE. In the literature, this skill is typically referred to as monitoring, measuring, or auditing clinical performance. This chapter reviews the evaluation of EBP implementation at three levels: the individual practitioner, the program or administrative unit, and the profession as a whole. The chapter then focuses on risk management, liability standards, and ethical issues—matters typically ignored when considering EBPs. The key ethical considerations in EBP revolve around competence, consent, and public statements; all of these are considered according to the American Psychological Association’s ethics code, which is used as an exemplar for the various codes of behavioral health professions.

scholarly journals Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability

2018 ◽  
Vol 08 (01) ◽  
pp. 001-009
Author(s):  
Pinar Arican ◽  
Berk Ozyilmaz ◽  
Dilek Cavusoglu ◽  
Pinar Gencpinar ◽  
Kadri Erdogan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
De Novo ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genetic Syndromes ◽  
Pathogenic Cnvs ◽  
Spectrum Disorders

AbstractChromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disorders. In this study, we present the results of CMA analysis in patients with DD/ID. Of 210 patients, pathogenic CNVs were detected in 26 (12%) and variants of uncertain clinical significance in 36 (17%) children. The diagnosis of well-recognized genetic syndromes was achieved in 12 patients. CMA analysis revealed pathogenic de novo CNVs, such as 11p13 duplication with new clinical features. Our results support the utility of CMA as a routine diagnostic test for unexplained DD/ID.

scholarly journals Research Ethics of Twitter for MOOCs

2019 ◽  
Vol 23 (3) ◽  
Author(s):  
Eamon Costello ◽  
Enda Donlon ◽  
Mark Brown
Keyword(s):  
Research Ethics ◽  
Teaching And Learning ◽  
Ethical Issues ◽  
Evidence Based ◽  
Ethical Considerations ◽  
Ethical Practices ◽  
Ethical Implications ◽  
Twitter Activity ◽  
A Site

This study examined the ethical considerations researchers have made when investigating MOOC learners’ and teachers’ Twitter activity. In so doing, it sought to addresses the lack of an evidence-based understanding of the ethical implications of research into Twitter as a site of teaching and learning. Through an analysis of 31 studies we present a mapping of the ethical practices of researchers in this area. We identified potential ethical issues and concerns that have arisen. Our main contribution is to seek to challenge researchers to engage critically with ethical issues and hence develop their own understanding of ethically- appropriate approaches. To this end, we also reflected and reported on our own evolving practice.

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