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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

Overview of attention for article published in European Journal of Human Genetics, March 2015
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • One of the highest-scoring outputs from this source (#3 of 3,026)
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (99th percentile)

Mentioned by

news
71 news outlets
policy
2 policy sources
twitter
77 tweeters
patent
1 patent
facebook
4 Facebook pages

Citations

dimensions_citation
173 Dimensions

Readers on

mendeley
371 Mendeley
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Title
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Published in
European Journal of Human Genetics, March 2015
DOI 10.1038/ejhg.2015.57
Pubmed ID
Authors

Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W Bianchi, Carsten Bergmann, Pascal Borry, Lyn S Chitty, Florence Fellmann, Francesca Forzano, Alison Hall, Lidewij Henneman, Heidi C Howard, Anneke Lucassen, Kelly Ormond, Borut Peterlin, Dragica Radojkovic, Wolf Rogowski, Maria Soller, Aad Tibben, Lisbeth Tranebjærg, Carla G van El, Martina C Cornel

Abstract

This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.European Journal of Human Genetics advance online publication, 18 March 2015; doi:10.1038/ejhg.2015.57.

Twitter Demographics

The data shown below were collected from the profiles of 77 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 371 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 <1%
Italy 1 <1%
Norway 1 <1%
Vietnam 1 <1%
South Africa 1 <1%
France 1 <1%
Unknown 363 98%

Demographic breakdown

Readers by professional status Count As %
Student > Master 72 19%
Student > Bachelor 51 14%
Student > Ph. D. Student 48 13%
Researcher 44 12%
Other 36 10%
Other 75 20%
Unknown 45 12%
Readers by discipline Count As %
Medicine and Dentistry 94 25%
Biochemistry, Genetics and Molecular Biology 68 18%
Agricultural and Biological Sciences 52 14%
Nursing and Health Professions 20 5%
Social Sciences 18 5%
Other 60 16%
Unknown 59 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 615. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 15 August 2019.
All research outputs
#19,823
of 17,925,806 outputs
Outputs from European Journal of Human Genetics
#3
of 3,026 outputs
Outputs of similar age
#303
of 269,957 outputs
Outputs of similar age from European Journal of Human Genetics
#1
of 75 outputs
Altmetric has tracked 17,925,806 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,026 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.6. This one has done particularly well, scoring higher than 99% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 269,957 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 99% of its contemporaries.
We're also able to compare this research output to 75 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 99% of its contemporaries.