Abstract
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.
Highlights
Chromosomal microarray analysis (CMA) allows the identification of small gains and losses of genetic material, not detected by conventional karyotyping
CMA has not yet replaced karyotyping in all indications for prenatal diagnosis, it is fast becoming the recommended test in pregnancies with structural anomalies, and increased nuchal translucency identified on ultrasound scan.[3,4,5]
This study explored the views of HCPs involved in prenatal CMA in the UK, as it moves from being a research technique to being offered to a growing number of pregnant women as part of their clinical care
Summary
Chromosomal microarray analysis (CMA) allows the identification of small gains and losses of genetic material, not detected by conventional karyotyping. Because of its increased diagnostic yield, CMA is the first-line genetic investigation for individuals with intellectual disability, developmental delay, autistic spectrum disorder, and multiple congenital anomalies.[1,2] CMA has not yet replaced karyotyping in all indications for prenatal diagnosis (such as advanced maternal age or raised risk from biochemical tests), it is fast becoming the recommended test in pregnancies with structural anomalies, and increased nuchal translucency identified on ultrasound scan.[3,4,5] This higher resolution view of the genome results in a greater chance of revealing: (1) variants of unknown clinical significance (e.g. novel microdeletions/duplications that contain no genes, or genes with no known function); (2) variants with uncertain clinical significance (VOUS) (e.g. microdeletions/duplications which include genes with incomplete penetrance),[5,6,7,8] (3) predisposition to diseases whose onset is not until adulthood (e.g. deletion of a cancer susceptibility gene),[9] and (4) findings relevant only to future pregnancies (e.g. a deletion of an x-linked gene in a female fetus). These include: to whom should testing be offered? (e.g. only in pregnancies where ultrasound anomalies are identified, or to all women?); which findings should be disclosed? (e.g. only those with clear pathogenicity, or VOUS; childhood-onset conditions only or adult-onset ones?); should women/parents be given a choice as to what type of results they receive?; and how can information about the fetus best be stored for potential future use?
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