Premium
Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed‐methods systematic review
Author(s) -
Harding Eleanor,
Hammond Jennifer,
Chitty Lyn S.,
Hill Melissa,
Lewis Celine
Publication year - 2020
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5729
Subject(s) - thematic analysis , worry , exome sequencing , harm , systematic review , regret , psychology , genetic testing , medicine , qualitative research , medline , clinical psychology , anxiety , social psychology , psychiatry , computer science , genetics , social science , machine learning , sociology , political science , law , mutation , gene , biology
Background Tests in pregnancy such as chromosomal microarray analysis and exome sequencing are increasing diagnostic yield for fetal structural anomalies, but have greater potential to result in uncertain findings. This systematic review investigated the experiences of prospective parents about receiving uncertain results from these tests. Methods A systematic search of three electronic databases was conducted. Data extraction was performed for studies that met the eligibility and quality criteria. Results were synthesised following the principles of thematic analysis. Results Fourteen studies (10 qualitative, 4 quantitative) were included. Findings were grouped into three overarching themes. Sources of uncertainty included the testing procedure, the diagnosis and prognosis, and health professionals' own uncertainty. The clinical impact of the uncertainty included parents struggling to make clinical decisions with the information available, the emotional impact included decisional‐regret, shock, worry and feeling overwhelmed. To manage the uncertainty, parents sought support from healthcare professionals, friends, family, the internet and other parents as well as remaining hopeful. Conclusions Prospective parents experience a myriad of uncertainties in the prenatal setting, which must be handled sensitively. Future research should explore optimal ways of managing uncertainty to minimise harm. Recommendations are made for discussing uncertainty during pre‐ and post‐test counseling.