'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

Hannah McInnes-Dean^{1

2

3}, Rhiannon Mellis^{2

3}, Morgan Daniel^{2

3}, Holly Walton⁴, Emma L Baple^{5

6}, Marta Bertoli⁷, Jane Fisher¹, Katarzyna Gajewska-Knapik⁸, Muriel Holder-Espinasse⁹, Caroline Lafarge¹⁰, Kerry Leeson-Beevers¹¹, Alec McEwan¹², Pranav Pandya^{13

14}, Michael Parker¹⁵, Sophie Peet¹⁶, Lauren Roberts¹⁶, Srividhya Sankaran^{17

18}, Audrey Smith¹⁹, Dagmar Tapon²⁰, Wing Han Wu^{2

3}, Sarah L Wynn²¹, Lyn S Chitty^{2

3}, Melissa Hill^{2

3}, Michelle Peter^{2

3}

Affiliations

¹ Antenatal Results and Choices, London, UK.
² North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
³ Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
⁴ Department of Applied Health Research, University College London, London, UK.
⁵ RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
⁶ Peninsula Clinical Genetics Service, School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
⁷ Northern Genetics Service, Newcastle upon Tyne, UK.
⁸ Department of Obstetrics and Gynaecology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
⁹ Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
¹⁰ School of Human and Social Sciences, University of West London, London, UK.
¹¹ Alström Syndrome UK, Torquay, UK.
¹² Department of Obstetrics and Gynaecology, Nottingham University Hospitals, Nottingham, UK.
¹³ Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, UK.
¹⁴ Fetal Medicine Unit, University College London Hospitals, London, UK.
¹⁵ The Ethox Centre, Nuffield Department of Population Health and Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, UK.
¹⁶ Genetic Alliance UK, London, UK.
¹⁷ School of Life Course and Population Sciences, Kings College London, St Thomas' Hospital, London, UK.
¹⁸ Department of Women and Children Health, Evelina Women & Children's Hospital Guy's and St Thomas' NHS Foundation Trust, London, UK.
¹⁹ Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK.
²⁰ Queen Charlotte's & Chelsea Hospital, Imperial College Healthcare NHS Trust, London, UK.
²¹ Unique - Rare Chromosome Disorder Support Group, Oxted, UK.

PMID: 38441167
DOI: 10.1002/pd.6537

'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

Hannah McInnes-Dean et al. Prenat Diagn. 2024 Apr.

. 2024 Apr;44(4):465-479.

doi: 10.1002/pd.6537. Epub 2024 Mar 5.

Authors

Affiliations

¹ Antenatal Results and Choices, London, UK.
² North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
³ Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
⁴ Department of Applied Health Research, University College London, London, UK.
⁵ RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
⁶ Peninsula Clinical Genetics Service, School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
⁷ Northern Genetics Service, Newcastle upon Tyne, UK.
⁸ Department of Obstetrics and Gynaecology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
⁹ Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
¹⁰ School of Human and Social Sciences, University of West London, London, UK.
¹¹ Alström Syndrome UK, Torquay, UK.
¹² Department of Obstetrics and Gynaecology, Nottingham University Hospitals, Nottingham, UK.
¹³ Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, UK.
¹⁴ Fetal Medicine Unit, University College London Hospitals, London, UK.
¹⁵ The Ethox Centre, Nuffield Department of Population Health and Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, UK.
¹⁶ Genetic Alliance UK, London, UK.
¹⁷ School of Life Course and Population Sciences, Kings College London, St Thomas' Hospital, London, UK.
¹⁸ Department of Women and Children Health, Evelina Women & Children's Hospital Guy's and St Thomas' NHS Foundation Trust, London, UK.
¹⁹ Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK.
²⁰ Queen Charlotte's & Chelsea Hospital, Imperial College Healthcare NHS Trust, London, UK.
²¹ Unique - Rare Chromosome Disorder Support Group, Oxted, UK.

PMID: 38441167
DOI: 10.1002/pd.6537

Abstract

Objectives: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England. This study aimed to explore parent experiences and their information and support needs from the perspective of parents offered pES and of health professionals involved in its delivery.

Methods: In this qualitative study, semi-structured interviews were conducted with 42 women and 6 male partners and 63 fetal medicine and genetic health professionals. Interviews were transcribed verbatim and analysed using thematic analysis.

Results: Overall views about pES were positive and parents were grateful to be offered the test. Highlighted benefits of pES included the value of the additional information for pregnancy management and planning for future pregnancies. An anxious wait for results was common, often associated with the need to make decisions near to 24 weeks in pregnancy when there are legal restrictions for late termination. Descriptions of dealing with uncertainty were also common, even when results had been returned. Many parents described pES results as informing decision-making around whether or not to terminate pregnancy. Some professionals were concerned that a non-informative result could be overly reassuring and highlighted that careful counselling was needed to ensure parents have a good understanding of what the result means for their pregnancy. Emotional support from professionals was valued; however, some parents felt that post-test support was lacking.

Conclusion: Parents and professionals welcomed the introduction of pES. Results inform parents' decision-making around the termination of pregnancy. When there are no diagnostic findings or uncertain findings from pES, personalised counselling that considers scans and other tests are crucial. Directing parents to reliable online sources of information and providing emotional support throughout could improve their experiences of care.

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References

REFERENCES

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'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

Affiliations

'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

Authors

Affiliations

Abstract

References

REFERENCES

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources