TABLE 2.
Characteristics of the selected papers
| Paper | Y.o.p | Country | Published by | Published in | Type of paper | Technique |
|---|---|---|---|---|---|---|
| ACMG | 2012 | USA | ACMG | Genetics in Medicine | Policy statement | ES |
| Armour et al. | 2018 | Canada | CCMG, SOGC | Journal of Medical Genetics | Policy statement | CMA |
| Claustres et al. | 2014 | Multiple countries a | ESHG | European Journal of Human Genetics | Policy statement | CMA/ES |
| Dugoff et al. | 2016 | USA | SMFM | American Journal of Obstetrics and Gynecology | Consult series | CMA |
| Hegde et al. | 2015 | USA | AMP | The Journal of Molecular Diagnostics | Special article | ES |
| ISPD, SMFM, PQF | 2018 | International | ISPD, SMFM, PQF | Prenatal Diagnosis | Position statement | ES |
| MacArthur et al. | 2014 | USA | US National Human Genome Research Institute | Nature | Guidelines | ES |
| Matthijs et al. | 2016 | Belgium, NL, Germany | ESHG | European Journal of Human Genetics | Policy statement | ES |
| Richards et al. | 2015 | USA | ACMG, AMP | Genetics in Medicine | Standards and guidelines | ES |
| Silva et al. | 2019 | Portugal, NL, UK | ESHG | European Journal of Human Genetics | Policy statement | CMA/ES |
| Suela et al. | 2017 | Spain | AEDP, AEGH, SEGCD | Medicina Clinica | Consensus statement | CMA |
| Vanakker et al. | 2014 | Belgium | All Belgium genetic centers | European Journal of Medical Genetics | Consensus statement | CMA |
| Van El et al. | 2013 | Multiple countries b | ESHG | European Journal of Medical Genetics | Policy statement | ES |
| Vears et al. | 2018 | Multiple countries c | ESHG | European Journal of Medical Genetics | Points to consider | ES |
| Wallis et al. | 2013 | UK, NL | ACGS (BSGM), VKGL | Association for Clinical Genetic Science; Dutch Society of Clinical Genetic Laboratory Specialists | Practice guidelines | ES |
| Monaghan et al. | 2020 | USA | ACMG | Genetics in Medicine | Points to consider | ES |
| Gardiner et al. | 2015 | UK | RCP, BSGM, RCOG, BMFMS (JCGM) | Royal College of Pathologists | Recommendations | CMA |
| Vetro et al. | 2012 | Multiple countries d | ESHG | Human Mutation | Special article | CMA |
| Skirton et al. | 2014 | UK | ESHG | European Journal of Human Genetics | Policy statement | CMA |
a
France, Czech Republic, Belgium, Switzerland, Netherlands (NL), Germany, Slovenia, Italy, UK, Ireland.
b
NL, Belgium, UK, Switzerland, France, Canada, Denmark.
c
Belgium, Canada, UK, Slovenia, France, NL.
d
Italy, NL, UK, Belgium, Germany, USA.