↓ Skip to main content

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
Altmetric Badge

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 3,685)
  • 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
4 policy sources
twitter
72 X users
patent
2 patents
facebook
4 Facebook pages
wikipedia
2 Wikipedia pages

Citations

dimensions_citation
256 Dimensions

Readers on

mendeley
459 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
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.

X Demographics

X Demographics

The data shown below were collected from the profiles of 72 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 459 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 <1%
Norway 1 <1%
France 1 <1%
South Africa 1 <1%
Italy 1 <1%
Unknown 452 98%

Demographic breakdown

Readers by professional status Count As %
Student > Master 79 17%
Student > Ph. D. Student 57 12%
Student > Bachelor 54 12%
Researcher 52 11%
Other 44 10%
Other 91 20%
Unknown 82 18%
Readers by discipline Count As %
Medicine and Dentistry 103 22%
Biochemistry, Genetics and Molecular Biology 79 17%
Agricultural and Biological Sciences 53 12%
Social Sciences 26 6%
Nursing and Health Professions 22 5%
Other 78 17%
Unknown 98 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 617. 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 16 November 2023.
All research outputs
#36,060
of 25,375,376 outputs
Outputs from European Journal of Human Genetics
#3
of 3,685 outputs
Outputs of similar age
#349
of 293,589 outputs
Outputs of similar age from European Journal of Human Genetics
#1
of 79 outputs
Altmetric has tracked 25,375,376 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 3,685 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.4. 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 293,589 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 79 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.