Abstract
For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and non-invasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework.
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17 April 2014
This article has been amended since online publication and a corrigendum appears in this issue.
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Acknowledgements
This study was funded under the EuroGentest Coordination Action 2011 – EU Contract no.: HEALTH-F4-2010-2614692 project. The workshop participants who contributed greatly to the guidelines were: Katia Bilardo, Outi Kamarainen, Helena Kaariaianen, Susan Kelly, Faustina Lalatta Milan Macek, Olav Petersen, Thomy de Ravel, Martina Rodriguez de Alba, Maria Soller and Sally Taffinder. We acknowledge the support of Jan Preece in helping to organise the workshop. LSC is partially funded by the National Institute of Health Research Biomedical Research Centre at Great Ormond Street Hospital and the Great Ormond Street Hospital Children’s Charity.
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The views expressed in the article are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health.
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Skirton, H., Goldsmith, L., Jackson, L. et al. Offering prenatal diagnostic tests: European guidelines for clinical practice. Eur J Hum Genet 22, 580–586 (2014). https://doi.org/10.1038/ejhg.2013.205
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DOI: https://doi.org/10.1038/ejhg.2013.205
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