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ObjectivesThis study explored the views of healthcare professionals (HCPs) in the UK about what information should be disclosed, when; and whether women/parents should be given a choice as to what they wish to know.MethodsQ-methodology was used to assess the views of 40 HCPs (genetic HCPs, fetal medicine experts, lab-scientists).ResultsMost participants agreed that variants of unknown clinical significance should not be disclosed. Participants were divided between those who considered variants of uncertain clinical significance helpful for parents and clinicians, and those who considered them harmful. Although recognising the potential disadvantages of disclosing risks for adult-onset conditions, participants thought it would be difficult to withhold such information once identified. Participants largely supported some parental involvement in determining which results should be returned. Most participants believed that information obtained via CMA testing in pregnancy should either be disclosed during pregnancy, or not at all.ConclusionHCPs taking part in the study largely believed that variants that will inform the management of the pregnancy, or are relevant to other family members, should be reported. Recent UK guidelines, published after this research was completed, reflect these opinions.

Original publication




Journal article


Prenatal diagnosis

Publication Date





252 - 259


Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, UK.


Humans, Chromosome Disorders, Prenatal Diagnosis, Microarray Analysis, Uncertainty, Attitude of Health Personnel, Disclosure, Professional-Patient Relations, Choice Behavior, Age of Onset, Pregnancy, Time Factors, Adult, Female, Male, Surveys and Questionnaires