Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders

Langlois, Sylvie; Benn, Peter; Wilkins‐Haug, Louise

doi:10.1002/pd.4532

Cited by 25 publications

(22 citation statements)

References 24 publications

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“…Currently, private companies are offering as well as determining what genetics diseases to include on screening panels for users in the USA, which are not necessarily compliant to professional guidelines (Langlois et al 2015). Moreover, there is some evidence of discrepancy in the prescription of expanded screening panels between private (almost 10-fold higher) and public doctors (Schoen et al 2014).…”

Section: Discussionmentioning

confidence: 99%

Swedish healthcare providers’ perceptions of preconception expanded carrier screening (ECS)—a qualitative study

2016

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Reproductive autonomy, medicalization, and discrimination against disabled and parental responsibility are the main ongoing ethical debates concerning reproductive genetic screening. To examine Swedish healthcare professionals' views on preconception expanded carrier screening (ECS), a qualitative study involving academic and clinical institutions in Sweden was conducted in September 2014 to February 2015. Eleven healthcare professionals including clinicians, geneticists, a midwife, and a genetic counselor were interviewed in depth using a semi-structured interview guide. The questionnaire was constructed after reviewing the main literature and meetings with relevant healthcare providers. The interviews were recorded, transcribed verbatim, and content analyzed for categories and subcategories. Participants nurtured many ethical and non-ethical concerns regarding preconception ECS. Among the ethical concerns were the potential for discrimination, medicalization, concerns with prioritization of healthcare resources, and effects on reproductive freedom. The effects of implementation of preconception ECS, its stakeholders, regulations, and motivation are some of non-ethical concerns. These concerns, if not addressed, may affect the uptake and usage of carrier screening within Swedish healthcare system. As this is a qualitative study with a small non-random sample size, the findings cannot be generalized. The participants had little to no working experience with expanded screening panels. Moreover, the interviews were conducted in English, a second language for the participants, which might have limited the expression of their views. However, the authors claim that the findings may be pertinent to similar settings in other Scandinavian countries.

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Section: Discussionmentioning

confidence: 99%

Swedish healthcare providers’ perceptions of preconception expanded carrier screening (ECS)—a qualitative study

2016

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“…These recommendations are based on consensus among experts that take into account disease severity, age of onset and prevalence, cost effectiveness, and the availability of therapies or other management options for affected individuals (including preimplantation or prenatal genetic diagnosis). Important limitations of this strategy for reproductive carrier screening include that many individuals do not have accurate knowledge of their ancestry, the increasing admixture in populations, and the focus of screening on more prevalent disorders, while other rarer but potentially equally or more severe conditions are not included 121 .…”

Section: The Emergence Of Expanded Carrier Screeningmentioning

confidence: 99%

“…In addition, as the number of genes included on these panels increases, 25% 122 or more 123, 124 of those screened will be identified as carriers, yet the chance that both reproductive partners carry mutations in the same gene remains low. The need for genetic counseling about these aspects and residual risks after testing puts significant strain on available genetic counseling services 120, 121, 125 .…”

Section: The Emergence Of Expanded Carrier Screeningmentioning

confidence: 99%

Recent advances in prenatal genetic screening and testing

Veyver

2016

F1000Res

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The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy.

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“…The utility of screening is likely to be far higher when risk is perceived from the perspective of the combined risk for a wide range of diseases. 10 The availability of broad screening panels thus seems to encourage the implementation of a population-wide screening offer. The Figure 1 Schematic overview of the different types of (preconception) carrier screening, including examples.…”

Section: Introductionmentioning

confidence: 99%

“…7,13 Moreover, some of these publications specifically indicate a preference for EUCS over traditional (targeted and/or ancestry-based) screening protocols. 2,10,14 Advocates mention three main moral advantages of this new screening proposition. First of all, EUCS would better serve the aim of reproductive screening, which is to enhance opportunities for autonomous reproductive choice.…”

Section: Introductionmentioning

confidence: 99%