Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

Vanakker, Olivier; Vilain, Catheline; Janssens, Katrien; Aa, Nathalie Van der; Smits, Guillaume; Bandelier, Claude; Blaumeiser, Bettina; Bulk, Saskia; Caberg, Jean‐Hubert; Leener, Anne De; Rademaeker, Marjan De; Ravel, Thomy de; Désir, Julie; Destrée, Anne; Dheedene, Annelies; Gaillez, Stephanie; Grisart, Bernard; Hellin, A.C.; Janssens, Sandra; Keymolen, Kathelijn; Menten, Björn; Pichon, Bruno; Ravoet, Marie; Revençu, Nicole; Rombout, Sonia; Staessens, Catherine; Bogaert, Ann Van Den; Bogaert, Kris Van Den; Vermeesch, Joris Robert; Kooy, R. Frank; Sznajer, Yves; Devriendt, Koen

doi:10.1016/j.ejmg.2014.02.002

Cited by 90 publications

(115 citation statements)

References 27 publications

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“…The deletion contained not only the EVC and EVC2 genes, but also STK32B and C4orf6, as in our case . It is important to underline that the deletion present Belgium, all genetic centres participate in a consortium to deal with this issue 13 .…”

Section: Letter To Editormentioning

confidence: 99%

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

et al. 2014

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What's already known about this topic?Array CGH permits high‐resolution genome analysis and allows for the detection of submicroscopic chromosomal deletions and duplications.Today, this technology is frequently used in prenatal diagnosis. What does this study add?We describe for the second time in the literature a particular form of compound heterozygosity in Ellis–van Creveld syndrome.Array CGH can uncover monogenic autosomal recessive disorders.Array CGH can be helpful in unraveling complex prenatal cases.

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Section: Letter To Editormentioning

confidence: 99%

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

et al. 2014

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“…Clinically relevant genomic imbalances are reported in 4%-7% of fetuses with ultrasound detected structural anomalies (7,9,10). Some laboratories completely switched over their prenatal invasive diagnosis to aCGH (11). Apart from the fact that aCGH is more expensive compared to conventional karyotyping, there is another very important issue in prenatal diagnosis, i.e.…”

Section: Genomic Tests In Prenatal Genetic Diagnosismentioning

confidence: 99%

Current practice and future perspective of the Prenatal Genetic Service in Slovenia

Volk

Teran²,

Maver³

et al. 2015

Paediatr Croat

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“…However, that may be changing. Even though prenatal genetic testing is usually subjected to more restrictions than postnatal testing, the directors of Belgian diagnostic laboratories recently reached a consensus that, when performing prenatal microarrays, they would report structural variants that affected genes for adult-onset disorders on the 56 gene ACMG list (31). Informal support for the reporting of adult results in children extends to clinical WES/WGS; a recent survey of geneticists found that the large majority would report medically actionable IFs for adult disease in children tested by clinical WGS (32).…”

Section: Tensions Between the Historical Consensus And Clinical Practicementioning

confidence: 99%

Predictive genetic testing for adult‐onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

et al. 2014

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The publication of the ACMG recommendations has reignited the debate over predictive testing for adult-onset disorders in minors. Response has been polarized. With this in mind, we review and critically analyze this debate. First, we identify long-standing inconsistencies between consensus guidelines and clinical practice regarding risk assessment for adult-onset genetic disorders in children using family history and molecular analysis. Second, we discuss the disparate assumptions regarding the nature of whole genome and exome sequencing underlying arguments of both supporters and critics, and the role these assumptions play in the arguments for and against reporting. Third, we suggest that implicit differences regarding the definition of best interests of the child underlie disparate conclusions as to the best interests of children in this context. We conclude by calling for clarity and consensus concerning the central foci of this debate.

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Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

Cited by 90 publications

References 27 publications

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

Current practice and future perspective of the Prenatal Genetic Service in Slovenia

Predictive genetic testing for adult‐onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

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