A new comprehensive paradigm for prenatal diagnosis: seeing the forest through the trees

Borrell, Antoni

doi:10.1002/uog.19035

Cited by 9 publications

(14 citation statements)

References 59 publications

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“…In most real-life clinical situations, geneticists and other workers in prenatal diagnosis struggle daily with the equilibrium between their clients’ right to know and the professional limitations of insufficient knowledge and scientific uncertainty. Professionals would welcome some kind of guidance 9–14…”

Section: Introductionmentioning

confidence: 99%

“…The Belgian approach sparks worldwide discussion. It has the advantage to prevent inconsistencies between genetic centres within the same country9–14 and avoids parental anxiety and needless terminations of pregnancy in case of VOUS 23 24. On the other hand, this approach can be viewed on as paternalistic, raising concerns about the legal implications and ignoring the personal wishes of the patient and with progressing knowledge non-communicated VOUS can become relevant later, leading to inconsistent counselling over several years.…”

Section: Introductionmentioning

confidence: 99%

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

Muys¹,

Blaumeiser²,

Janssens

et al. 2019

J Med Ethics

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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.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Muys¹,

Blaumeiser²,

Janssens

et al. 2019

J Med Ethics

View full text Add to dashboard Cite

show abstract

“…Based on these data, it has been argued that its accuracy detecting this chromosomal abnormality is very similar to very precise diagnostic invasive techniques such as amniocentesis but entraining no risk and hence ‘it has been advertised repeatedly in the press as the method to replace amniocentesis’ (Borrell and Stergiotou, 2015, p. 508). According to Borrell (2018), this misconception of cfDNA as a safer alternative to amniocentesis is based on its commercial name (NIPT) and it has been used for marketing purposes, implying invasive procedures will not be required. Most experts (within them, Gray and Wilkins-Haug, 2018; Petersen et al, 2017; Smith et al, 2014) agree, however, that NIPT cannot replace diagnostic invasive techniques to confirm foetal chromosomal disorders.…”

Section: Evolution Of Prenatal Testingmentioning

confidence: 99%

“…Most experts (within them, Gray and Wilkins-Haug, 2018; Petersen et al, 2017; Smith et al, 2014) agree, however, that NIPT cannot replace diagnostic invasive techniques to confirm foetal chromosomal disorders. Besides, the NIPT have been correctly validated for trisomy 21 singleton foetuses (99%) but not for twins and are not able to detect other aneuploidies (Borrell, 2018; Gray and Wilkins-Haug, 2018).…”

Section: Evolution Of Prenatal Testingmentioning

confidence: 99%

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Mission Impossible? Preventing discrimination on grounds of disability of foetuses with Down syndrome in Spain after the emergence of non-invasive prenatal testing

Díaz

2019

International Journal of Discrimination and the Law

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This article analyses the current situation of discrimination towards foetuses with Down syndrome (DS) in Spain, both legally and through the medical practice, pointing out how this discrimination breaches the United Nations Convention on the Rights of Persons with Disabilities (CRPD), ratified by Spain, according to the Committee of the CRPD. This work argues that an eventual modification of the Spanish abortion legislation (in appeal before the Constitutional Court) might not be enough to prevent the said discrimination due to the emergence of the non-invasive prenatal testing (NIPT). It explores the challenges introduced by the NIPT and the relationship between a prenatal diagnose of a disability (DS in particular) and termination of pregnancy rates. Health practitioners, mainly through the communication of the diagnose, play a significant role in the bias against the DS population that leads to discrimination. Consequently, this article suggests the need for a different approach towards a DS diagnose, more accurate, positive and based on the actual experience of individuals with DS and their families.

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Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study

et al. 2020

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Objective Belgian genetic centers established a database containing data on all chromosomal microarrays performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non‐benign copy number variant (CNV). Methods All children diagnosed with a prenatally detected non‐benign CNV in a Belgian genetic center between May 2013 and February 2015 were included in the patient population. The control population consisted of children who had undergone an invasive procedure during pregnancy, with no or only benign CNVs. Child development was evaluated at 36 months using three (3) questionnaires: Ages and Stages Questionnaire Third edition, Ages and Stages Questionnaire Social‐Emotional Second Edition and a general questionnaire. Results A significant difference in communication and personal‐social development was detected between children with a reported susceptibility CNV and both children with an unreported susceptibility CNV and the control population. The outcome of children with a particular CNV is discussed in a case‐by‐case manner. Conclusion Our postnatal follow‐up project of children with a prenatally detected non‐benign CNV is the first nationwide project of its kind. A higher number of cases for each CNV category is however needed to confirm our findings.

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A new comprehensive paradigm for prenatal diagnosis: seeing the forest through the trees

Cited by 9 publications

References 59 publications

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

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

Mission Impossible? Preventing discrimination on grounds of disability of foetuses with Down syndrome in Spain after the emergence of non-invasive prenatal testing

Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study

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