Stina Lou1,2, Kirsten Lomborg3,4, Celine Lewis5,6, Sam Riedijk7, Olav Bjørn Petersen8, Ida Vogel1,4,9. 1. Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark. 2. DEFACTUM - Public Health & Health Services Research, Central Denmark Region, Aarhus, Denmark. 3. Steno Diabetes Center Copenhagen, Gentofte, Denmark. 4. Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. 5. London North Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK. 6. UCL Great Ormond Street Institute of Child Health, London, UK. 7. Erasmus Medical Center, Rotterdam, The Netherlands. 8. Fetal Medicine Unit, Department of Obstetrics & Gynecology, Rigshospitalet Copenhagen University Hospital, Copenhagen, Denmark. 9. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Abstract
INTRODUCTION: A common concern regarding the introduction of chromosomal microarray in prenatal testing is the concomitant identification of an uncertain copy number variant (CNV) where significance and clinical implication for the unborn child can be difficult or impossible to predict. Following the identification of an uncertain CNV, prospective parents may decide to continue the pregnancy. The aim of this study was to explore how prospective parents manage uncertainty and experience pregnancy in light of an uncertain CNV result. MATERIAL AND METHODS: Qualitative interviews with 16 women and 10 partners who had received a prenatally diagnosed, uncertain CNV. Participants were recruited from the Aarhus University Hospital, Denmark and most were interviewed in their homes 1-14 weeks after birth. Data were analyzed using thematic analysis. RESULTS: Following the CNV diagnosis, some couples focused on the severe syndromes ruled out by the result, whereas others were more concerned with the new potential risks, for example, learning disabilities. Most couples did not remember the actual diagnosis, but all described a number of attention points generated by the CNV result. During pregnancy, the couples used various strategies to limit worry and enjoy their pregnancy, such as limiting information seeking, reducing talk of the CNV, and deferring thoughts of potential consequences. Furthermore, ultrasound was considered a valuable resource for reducing worry as it provided reassurance about the development of the baby. Inherited CNVs caused relief on one hand, but also feelings of responsibility for the child's potential challenges. After birth, worry decreased considerably, but all couples paid some extra attention to the child's development, while also being alert to the risk of wrongfully interpreting the child's development in terms of the CNV. Eleven couples expressed satisfaction with knowing about the child's CNV, whereas five couples would rather not have known. CONCLUSIONS: The results indicate that health professionals should be mindful of terminology, remember to point out what has been ruled out by the CNV result, and discuss potential coping strategies with the couple. Furthermore, these couples may have a higher need for ultrasound during pregnancy to help reduce worry. More research is needed on the families' long-term coping.
INTRODUCTION: A common concern regarding the introduction of chromosomal microarray in prenatal testing is the concomitant identification of an uncertain copy number variant (CNV) where significance and clinical implication for the unborn child can be difficult or impossible to predict. Following the identification of an uncertain CNV, prospective parents may decide to continue the pregnancy. The aim of this study was to explore how prospective parents manage uncertainty and experience pregnancy in light of an uncertain CNV result. MATERIAL AND METHODS: Qualitative interviews with 16 women and 10 partners who had received a prenatally diagnosed, uncertain CNV. Participants were recruited from the Aarhus University Hospital, Denmark and most were interviewed in their homes 1-14 weeks after birth. Data were analyzed using thematic analysis. RESULTS: Following the CNV diagnosis, some couples focused on the severe syndromes ruled out by the result, whereas others were more concerned with the new potential risks, for example, learning disabilities. Most couples did not remember the actual diagnosis, but all described a number of attention points generated by the CNV result. During pregnancy, the couples used various strategies to limit worry and enjoy their pregnancy, such as limiting information seeking, reducing talk of the CNV, and deferring thoughts of potential consequences. Furthermore, ultrasound was considered a valuable resource for reducing worry as it provided reassurance about the development of the baby. Inherited CNVs caused relief on one hand, but also feelings of responsibility for the child's potential challenges. After birth, worry decreased considerably, but all couples paid some extra attention to the child's development, while also being alert to the risk of wrongfully interpreting the child's development in terms of the CNV. Eleven couples expressed satisfaction with knowing about the child's CNV, whereas five couples would rather not have known. CONCLUSIONS: The results indicate that health professionals should be mindful of terminology, remember to point out what has been ruled out by the CNV result, and discuss potential coping strategies with the couple. Furthermore, these couples may have a higher need for ultrasound during pregnancy to help reduce worry. More research is needed on the families' long-term coping.
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: James Buchanan; Melissa Hill; Caroline M Vass; Jennifer Hammond; Sam Riedijk; Jasmijn E Klapwijk; Eleanor Harding; Stina Lou; Ida Vogel; Lisa Hui; Charlotta Ingvoldstad-Malmgren; Maria Johansson Soller; Kelly E Ormond; Mahesh Choolani; Qian Zheng; Lyn S Chitty; Celine Lewis Journal: Prenat Diagn Date: 2022-04-30 Impact factor: 3.242
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
Authors: Celine Lewis; Jennifer Hammond; Jasmijn E Klapwijk; Eleanor Harding; Stina Lou; Ida Vogel; Emma J Szepe; Lisa Hui; Charlotta Ingvoldstad-Malmgren; Maria J Soller; Kelly E Ormond; Mahesh Choolani; Melissa Hill; Sam Riedijk Journal: Prenat Diagn Date: 2021-03-30 Impact factor: 3.050