Prenatal whole‐exome sequencing: parental attitudes

Prenatal consent for whole exome sequencing is not a 'perfect' process, but consent takers should be fully educated regarding the test. PRGs highlighted issues involving access to results, feeling that women want to know all information. PRGs also felt that patients want reinterpretation of results over time, whilst CPs felt that interpretation should be performed at the point of testing only. © 2016 John Wiley & Sons, Ltd.

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“…Only 2.2% were opposed to the testing. However, over 70% reported an increased risk of adult onset conditions or a VUS would cause them anxiety …”

Section: Discussionmentioning

confidence: 99%

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives

et al. 2016

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“…showed that about 55% of parents undergoing prenatal CMA testing wanted to be informed of adult‐onset conditions found incidentally. Kalynchuk et al . and Walser et al .…”

Section: Discussionmentioning

confidence: 99%

“…showed that pregnant women and those undergoing prenatal CMA found it important to know about adult‐onset conditions, both treatable and non‐treatable. Nevertheless, the majority of the participants in Kalynchuk et al 's study believed that the identification of an increased risk for adult‐onset and/or a VOUS would cause them anxiety …”

Section: Discussionmentioning

confidence: 99%

What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis

et al. 2016

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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. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

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“…Interviews were digitally recorded and transcribed. National Research Ethics Service approval to undertake this study was granted by West Midlands South Birmingham Committee (REC reference /WM/0150).…”

Section: Methodsmentioning

confidence: 99%

Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly

et al. 2017

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Parents desired as much information as possible and appreciated information being repeated and provided in various formats. Many struggled with clinical uncertainty relating to the cause and prognosis following a fetal anomaly diagnosis and found it difficult to balance the risks of invasive testing against their need for more definitive information. Parents trusted their clinicians and valued their support with decisions in pregnancy. Testing was sometimes pursued to reassure parents that their baby was "normal" rather than to confirm an underlying genetic problem. Parents were motivated to undergo WES for personal and altruistic reasons but disliked waiting times for results and were uncertain about what findings might be returned.

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Prenatal whole‐exome sequencing: parental attitudes

Abstract: The majority of respondents felt prenatal whole-exome sequencing should be offered. Moreover, the majority wanted to know prenatally about treatable and non-treatable childhood and adult conditions.

Cited by 57 publications

References 26 publications

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives

What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis

Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly

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