. 2020 May 24;40(8):1028–1039. doi: 10.1002/pd.5729

TABLE 2.

Themes relating to sources of uncertainty

Themes	Example quote/findings
Testing procedure
Not knowing the test could reveal uncertain results ¹⁸ Uncertainty about the test itself¹⁵^,¹⁸^,³¹ Uncertainty around who delivers the results and how they are delivered⁶^,¹⁹	‘I was not aware that we could get inconclusive results, or they would find something, but it not mean anything to them’. [Patient quote] ‐¹⁸ Because it seemed risk‐free, many women said they had not understood much about microarray testing before having it done [Findings]. ‐¹⁵ Some parents were uncertain regarding the process by which results would be returned and would have appreciated having this better explained to them. Some parents preferred to return to the hospital and have the results explained by familiar clinicians face to face. [Findings] ‐¹⁹
Results, including diagnosis and prognosis
Difficulty recalling diagnosis²⁶ No information available about diagnosis (following CMA or ES)¹⁵^,³⁰ Prognosis around learning disability¹⁵^,²⁶^,²⁷ Prognosis around spectrum disorder¹⁵^,¹⁸^,²⁶ Prognosis around what child will look like/be like¹⁵^,²⁷^,²⁸^,³³ Whether baby will survive³⁰ Uncertainty around whether condition was inherited¹⁵^,¹⁸^,²⁶^,²⁷ Variants of uncertain significance found (VUS)¹⁸^,²⁶^,²⁷^,²⁸^,²⁹^,³⁰^,³⁴	‘I can't remember which letter or number it was— it was 22 or something’. [Patient quote] ‐²⁶ In two cases women said that they had not received enough information. One of these cases involved an uncertain chromosome result where no accurate information was available. [Findings] ‐³⁰ ‘Since I had this uncertain microarray result … if anything happens to him in the future … that will always pop up in my mind…. You just have to have a “wait and see” attitude…. I'm a lot more vigilant’. (Participant 8) ‐^[ ¹⁴ ^] One woman who terminated a pregnancy diagnosed with a de novo DiGeorge deletion said: ‘We still grapple with this because it is very much a spectrum of severity, very, very hard to predict what the outcome would be…. So that was very, very difficult for us because it made assessing our choices really hard’. [Patient quote] ‐¹⁵ ‘I was upset, because they could not tell me exactly how high the risk of developing the clinical features was. I just sat there stared at the geneticist and asked what it was, and if it was dangerous’. [Patient quote] ‐³³ Many women and their partners expressed uncertainty and lack of control over the situation. Two women expressed distress at not knowing if their unborn child would live or die. [Findings] ‐³⁰ Genetic testing of biological parents confirmed whether the variant was inherited or de novo. If the variant was inherited from a parent who had no clinical presentation, participants reported being reassured by their providers that the baby likely develops typically as well. [Findings] ‐¹⁸ Two people described getting the result of unknown significance (VUS). The second couple found the uncertainty difficult to deal with: ‘You never think a doctor's going to go, phew, don't know what it is’. [Patient quote] ‐³⁰
Accuracy of online information¹⁵^,²⁷	‘We did a little bit of research online, but when you look online, you ‐ it's just nonsense. I mean some are true, some are false’. ‐ [patient quote]²⁷
Health professionals’ uncertainty¹⁵^,²⁷^,³⁰	‘You know, they're telling me there's something wrong, but they can't tell me what…. We wanted to know what that would mean for our son in the future. And they really couldn't tell us’. ‐ [patient quote]¹⁵ ‘I assume nobody really knows and because they don't know they can't tell me’. ‐ [patient quote]³⁰