Array CGH in routine prenatal diagnosis practice

Cavalli, Pietro; Cavallari, Ugo; Novelli, Antonio

doi:10.1002/pd.3845

Cited by 6 publications

(2 citation statements)

References 6 publications

(5 reference statements)

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“…novel microdeletions/duplications that contain no genes, or genes with no known function), (2) variants with uncertain clinical significance (VOUS) (e.g. microdeletions/duplications which include genes with incomplete penetrance), [5][6][7][8] (3) predisposition to diseases whose onset is not until adulthood (e.g. deletion of a cancer susceptibility gene), 9 and (4) findings relevant only to future pregnancies (e.g.…”

Section: Introductionmentioning

confidence: 99%

What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis

et al. 2016

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ObjectivesThis study explored the views of healthcare professionals (HCPs) in the UK about what information should be disclosed, when; and whether women/parents should be given a choice as to what they wish to know.MethodsQ‐methodology was used to assess the views of 40 HCPs (genetic HCPs, fetal medicine experts, lab‐scientists).ResultsMost participants agreed that variants of unknown clinical significance should not be disclosed. Participants were divided between those who considered variants of uncertain clinical significance helpful for parents and clinicians, and those who considered them harmful. Although recognising the potential disadvantages of disclosing risks for adult‐onset conditions, participants thought it would be difficult to withhold such information once identified. Participants largely supported some parental involvement in determining which results should be returned. Most participants believed that information obtained via CMA testing in pregnancy should either be disclosed during pregnancy, or not at all.ConclusionHCPs taking part in the study largely believed that variants that will inform the management of the pregnancy, or are relevant to other family members, should be reported. Recent UK guidelines, published after this research was completed, reflect these opinions. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

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Section: Introductionmentioning

confidence: 99%

What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis

et al. 2016

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“…Others are more reticent about introducing this test prenatally. This reticence is mainly due to the fact that microarrays identify CNVs that can be categorised as being likely benign, likely pathogenic or a variant of unknown clinical significance (VOUS) (Hillman et al 2011), and that arrays generate more VOUS than karyotyping (Armengol et al 2012;Cavalli et al 2012;Dondorp et al 2012). Thus, finding more clinically relevant abnormalities comes at the price of finding more VOUS: estimations of the percentage of VOUS in all prenatal samples vary from 0.3-1 %, depending on the population tested and the platform used (Armengol et al 2012;Coppinger et al 2009;Wapner et al 2012a).…”

Section: Introductionmentioning

confidence: 99%

Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection

et al. 2013

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Genomic microarray analysis is increasingly being applied as a prenatal diagnostic tool. Microarrays enable searching the genome at a higher resolution and with higher sensitivity than conventional karyotyping for identifying clinically significant chromosomal abnormalities. As yet, no clear guidelines exist on whether microarrays should be applied prenatally for all indications or only in selected cases such as ultrasound abnormalities, whether a targeted or genome-wide array should be used, and what these should include exactly. In this paper, we present some ethical considerations on the prenatal use of microarrays. There is a strong consensus, at least in Western countries, that the aim of prenatal screening for foetal abnormalities should be understood as facilitating autonomous reproductive choice for prospective parents. The tests offered should be valid and useful to reach that purpose. Against this background, we address several ethical issues raised by the prenatal application of microarrays. First, we argue that the general distinction between a targeted and a genome-wide microarray needs to be scrutinised. Then we examine whether microarrays are 'suitable tests' to serve either a screening or a diagnostic purpose. Given the wide range of findings possibly generated by microarrays, the question arises whether microarrays actually promote or interfere with autonomous reproductive decision-making. Moreover, if variants of unknown clinical significance are identified, this adds to the burden and complexity of reproductive decision-making. We suggest a qualified use of microarrays in the prenatal context.

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Chromosomal Microarray in the New High-Throughput Technological and Bioinformatic Era

Mathew

2019

Essentials of Bioinformatics, Volume II

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Array CGH in routine prenatal diagnosis practice

Cited by 6 publications

References 6 publications

What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis

What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis

Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection

Chromosomal Microarray in the New High-Throughput Technological and Bioinformatic Era

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