Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed‐methods systematic review

Abstract

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. | BACKGROUNDFetal anomalies occur in 2% to 5% of pregnancies and cause around 21% of perinatal deaths. 1,2,3 Initially, prenatal testing for fetal anomalies was limited to karyotyping and targeted genetic testing. 4 Chromosomal microarray analysis (CMA), which is able to evaluate the sub-microscopic structure of chromosomes is now being offered routinely in many countries, and prenatal exome sequencing (ES), which provides resolution down to the single base-pair, is beginning to be used clinically to increase diagnostic rates. 5 There are a number of benefits in getting a result from prenatal testing. This includes the potential to provide a definitive diagnosis during pregnancy which can then inform genetic counselling, pregnancy and delivery management, and pre-and post-natal care. 6,7

Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han’s taxonomy of uncertainty

“…Many of the experiences of uncertainty identified through this study are consistent with findings in the published literature (Harding, Hammond, Chitty, Hill, & Lewis, 2020 ). Regarding the ‘sources’ of uncertainty ( probability , ambiguity, and complexity ) we found, for example, that the uncertainty related to ambiguity included the limited information available to parents about the anomaly identified.…”

Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross‐sectional study with healthcare professionals

“…An important finding was the role that HPs play in influencing the management of uncertainty by how they process and discuss it with patients. Parents have expressed that the way uncertain results are communicated has a significant impact on their experience and ability to cope with uncertainty 40 . Going forwards, it will be important to ensure adequate training for HPs returning CMA and ES results, so that only the more complex cases need to be referred to clinical genetics.…”

Prenatal chromosome microarray: ‘The UK experience’. A survey of reporting practices in UK genetic services (2012–2019)

“…In a focus group setting, clinical professionals expressed greater hesitancy round the reporting of incidental or uncertain findings in prenatal investigations, compared to patient representatives 18 . The vital viewpoint of the patient regarding results that may reveal unexpected information about them or without a clear clinical outcome has been explored in several publications 6,8,9,19 . In general, it has been suggested that patients may in fact welcome the potential to receive increased information, though there remains debate over whether this could potentially negatively impact individuals' view of their pregnancy or child 6,20 .…”