Elizabeth Quinlan-Jones1, Sarah C Hillman2, Mark D Kilby1,3,4, Sheila M Greenfield5. 1. Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK. 2. Unit of Primary Care, Warwick Medical School, University of Warwick, Birmingham, UK. 3. Birmingham Centre for Women's and New-born Health, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK. 4. Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK. 5. Institute of Applied Health Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Abstract
OBJECTIVE: To explore parental experiences of whole exome sequencing (WES) for prenatal diagnosis and ascertain what influenced their decision-making to undergo testing. METHOD: Twelve women comprised a purposeful sample in a series of semistructured interviews. All had received a fetal anomaly diagnosis on ultrasound. A topic guide was used, and transcripts were thematically analyzed to elicit key themes. RESULTS: Five main themes (parental experiences of prenatal WES, need for information, consent/reasons for prenatal WES, sources of support for prenatal WES, and return of WES findings to families) emerged, some with multiple subthemes. CONCLUSIONS: 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.
OBJECTIVE: To explore parental experiences of whole exome sequencing (WES) for prenatal diagnosis and ascertain what influenced their decision-making to undergo testing. METHOD: Twelve women comprised a purposeful sample in a series of semistructured interviews. All had received a fetal anomaly diagnosis on ultrasound. A topic guide was used, and transcripts were thematically analyzed to elicit key themes. RESULTS: Five main themes (parental experiences of prenatal WES, need for information, consent/reasons for prenatal WES, sources of support for prenatal WES, and return of WES findings to families) emerged, some with multiple subthemes. CONCLUSIONS: 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.
Authors: Melissa Hill; Sian Ellard; Jane Fisher; Naomi Fulop; Marian Knight; Mark Kroese; Jean Ledger; Kerry Leeson-Beevers; Alec McEwan; Dominic McMullan; Rhiannon Mellis; Stephen Morris; Michael Parker; Dagmar Tapon; Emma Baple; Laura Blackburn; Asya Choudry; Caroline Lafarge; Hannah McInnes-Dean; Michelle Peter; Rema Ramakrishnan; Lauren Roberts; Beverly Searle; Emma Smith; Holly Walton; Sarah L Wynn; Wing Han Wu; Lyn S Chitty Journal: NIHR Open Res Date: 2022-07-18
Authors: Mirjam Plantinga; Lauren Zwienenberg; Eva van Dijk; Hanna Breet; Janouk Diphoorn; Julia El Mecky; Katelijne Bouman; Joke Verheij; Erwin Birnie; Adelita V Ranchor; Nicole Corsten-Janssen; Irene M van Langen Journal: Prenat Diagn Date: 2021-10-22 Impact factor: 3.242
Authors: Jennifer Hammond; Jasmijn E Klapwijk; Sam Riedijk; Stina Lou; Kelly E Ormond; Ida Vogel; Lisa Hui; Emma-Jane Sziepe; James Buchanan; Charlotta Ingvoldstad-Malmgren; Maria Johansson Soller; Eleanor Harding; Melissa Hill; Celine Lewis Journal: PLoS One Date: 2022-01-28 Impact factor: 3.240
Authors: Jennifer Hammond; Jasmijn E Klapwijk; Melissa Hill; Stina Lou; Kelly E Ormond; Karin E M Diderich; Sam Riedijk; Celine Lewis Journal: J Genet Couns Date: 2020-07-07 Impact factor: 2.717