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Objective: To investigate whether the introduction of non‐invasive pre‐natal testing for Down's syndrome (DS) has the potential to undermine informed choice. Participants: Three hundred and ninety‐three health professionals; 523 pregnant women. Methods: A cross‐sectional questionnaire study across nine maternity units and three conferences in the UK designed to assess opinions regarding test delivery and how information should be communicated to women when offered Down's syndrome screening (DSS) or diagnosis using invasive (IDT) or non‐invasive testing (NIPT). Results: Both pregnant women and health professionals in the NIPT and DSS groups were less likely than the IDT group to consider that testing should take place at a return visit or that obtaining written consent was necessary, and more likely to think testing should be carried out routinely. Compared to health professionals, pregnant women expressed a stronger preference for testing to occur on the same day as pre‐test counselling (P = 0.000) and for invasive testing to be offered routinely (P = 0.000). They were also more likely to indicate written consent as necessary for DSS (P = 0.000) and NIPT (P < 0.05). Conclusions: Health professionals and pregnant women view the consenting process differently across antenatal test types. These differences suggest that informed choice may be undermined with the introduction of NIPT for DS into clinical practice. To maintain high standards of care, effective professional training programmes and practice guidelines are needed which prioritize informed consent and take into account the views and needs of service users. [ABSTRACT FROM AUTHOR]

Genome sequencing (GS) will have a profound impact on the diagnosis of rare and inherited diseases in children and young people. We conducted 27 semi-structured interviews with young people aged 11–19 having GS through the UK 100, 000 Genomes Project. Participants demonstrated an understanding of the role and function of genes and DNA, however the terms 'genome' and 'genome sequencing' were less well understood. Participants were primarily motivated to take part to get a diagnosis or identify the gene causing their condition. The majority of participants understood they might not receive a diagnostic result. Most were unconcerned about data security or access, however anxieties existed around what the results might show and the potential for disappointment if the result was negative. Signing an assent form empowered young people, formalised the process and instilled a sense of responsibility for their choice to participate. Most young people (≥16 years) had consented to receive secondary findings and had come to that decision without parental influence. Our research suggests that at least some young people are capable of making informed decisions about taking part in GS, and that involving them in discussions about testing can empower them to take responsibility over healthcare decisions that affect them. [ABSTRACT FROM AUTHOR]

Objectives: To conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES)., Methods: Semi-structured interviews with 31 healthcare providers who report or return prenatal CMA and/or ES results (clinicians, genetic counsellors and clinical scientists) in six countries with differing healthcare systems; Australia (4), Denmark (5), Netherlands (6), Singapore (4), Sweden (6) and United Kingdom (6). The topic guide explored the main sources of uncertainty and their management., Results: There was variation in reporting practices both between and across countries for variants of uncertain significance, however, there was broad agreement on reporting practices for incidental findings. There was also variation in who decides what results are reported (clinical scientists or clinicians). Technical limitations and lack of knowledge (to classify variants and of prenatal phenotypes) were significant challenges, as were turnaround times and lack of guidelines., Conclusion: Health professionals around the globe are dealing with similar sources of uncertainty, but managing them in different ways, Continued dialogue with international colleagues on ways of managing uncertain results is important to compare and contrast the benefits and limitations of the different approaches., (© 2021 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Background: Perinatal and paediatric autopsy rates are at historically low levels with declining uptake due to dislike of the invasiveness of the procedure, and religious objections particularly amongst Muslim and Jewish parents. Less invasive methods of autopsy including imaging with and without tissue sampling have been shown to be feasible alternatives. We sought to investigate attitudes including religious permissibility and potential uptake amongst members of the Muslim and Jewish communities in the United Kingdom., Methods: Semi-structured interviews with religious and faith-based authorities (n = 16) and bereaved parents from the Jewish community (n = 3) as well as 10 focus groups with community members (60 Muslim participants and 16 Jewish participants) were conducted. Data were analysed using thematic analysis to identify key themes., Findings: Muslim and Jewish religious and faith-based authorities agreed that non-invasive autopsy with imaging was religiously permissible because it did not require incisions or interference with the body. A minimally invasive approach was less acceptable as it still required incisions to the body, although in those circumstances where it was required by law it was more acceptable than a full autopsy. During focus group discussions with community members, the majority of participants indicated they would potentially consent to a non-invasive autopsy if the body could be returned for burial within 24 hours, or if a family had experienced multiple fetal/pregnancy losses and the information gained might be useful in future pregnancies. Minimally invasive autopsy was less acceptable but around half of participants might consent if a non-invasive autopsy was not suitable, with the exception of the Jewish Haredi community who unanimously stated they would decline this alternative., Conclusions: Our research suggests less invasive autopsy offers a viable alternative to many Muslim and Jewish parents in the UK who currently decline a full autopsy. The findings may be of importance to other countries with significant Muslim and/or Jewish communities as well as to other religious communities where concerns around autopsy exist. Awareness-raising amongst religious leaders and community members will be important if these methods become routinely available., Competing Interests: The authors have declared that no competing interests exist.

Objective: To assess health professionals' and coroners' attitudes towards non-minimally and minimally invasive autopsy in the perinatal and paediatric setting., Methods: A qualitative study using semistructured interviews. Data were analysed thematically., Results: Twenty-five health professionals (including perinatal/paediatric pathologists and anatomical pathology technologists, obstetricians, fetal medicine consultants and bereavement midwives, intensive care consultants and family liaison nurses, a consultant neonatologist and a paediatric radiologist) and four coroners participated. Participants viewed less invasive methods of autopsy as a positive development in prenatal and paediatric care that could increase autopsy rates. Several procedural and psychological benefits were highlighted including improved diagnostic accuracy in some circumstances, potential for faster turnaround times, parental familiarity with imaging and laparoscopic approaches, and benefits to parents and faith groups who object to invasive approaches. Concerns around the limitations of the technology such not reaching the same levels of certainty as full autopsy, unsuitability of imaging in certain circumstances, the potential for missing a diagnosis (or misdiagnosis) and de-skilling the workforce were identified. Finally, a number of implementation issues were raised including skills and training requirements for pathologists and radiologists, access to scanning equipment, required computational infrastructure, need for a multidisciplinary approach to interpret results, cost implications, equity of access and acceptance from health professionals and hospital managers., Conclusion: Health professionals and coroners viewed less invasive autopsy as a positive development in perinatal and paediatric care. However, to inform implementation a detailed health economic analysis and further exploration of parental views, particularly in different religious groups, are required., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)