TABLE 1.

Summary of included studies

Reference/country	KMET score (%)	Aim	Method	Participants	Findings and key themes relating to uncertainty before and after receiving CMA and ES results
Bernhardt et al, USA 15	80	Explore the experiences of women receiving abnormal results from prenatal CMA testing performed in a research setting	Qualitative Semi‐structured telephone interviews	23 women who had received positive/uncertain CMA results	After receiving uncertain results from CMA, participants were shocked, anxious and overwhelmed as they struggled with the lack of a definitive answer. The majority of participants felt they were not properly informed of the possibility of uninterpretable or uncertain results.
Desai et al, USA 29	86	Examine the influence that the return of genomic (CMA) results had on parental well‐being and perceptions of children's development	Quantitative 12 study instruments	138 participants (80 mothers, who underwent prenatal CMA, and 58 fathers) Mean age: 38.1 years	Participants who received VUS rated their child as less competent at 12 months than parents who received normal/likely benign test results (P = .04) but at 36 months there was no difference (P = .37), using the Brief Infant‐Toddler Social and Emotional Assessment instrument. At 36 months, participants who received VUS were significantly less satisfied with their decision to undergo genetic testing compared to the group who received normal results (P = .02).
Halliday et al, Australia 34	91	Examine the choices pregnant women make about the amount of foetal genetic information they want from CMA	Quantitative 2 self‐administered surveys with validated scales	111 pregnant women who underwent invasive prenatal testing, without a foetal structural abnormality	A slight majority (59.5%) of participants chose to receive the extended analysis report, which included VUS, over the targeted analysis report, which included only abnormalities with 100% penetrance.
Hillman et al, UK 30	85	Gain insight into the experiences of women and their partners diagnosed with a foetal abnormality on prenatal ultrasound examination and receiving CMA testing	Qualitative Semi‐structured interviews	25 women after receiving CMA results (12 male partners were present) Median age: 29.6 years	Participants felt uncertain during the long wait for results as they were aware of the 24‐week pregnancy termination time‐limit. Participants struggled with uncertainty within the medical team, when a healthcare professional was unable to give them the answers they wanted.
Quinlan‐Jones et al, UK 19	85	Explore parental experiences of ES for prenatal diagnosis and explore their reasons for undergoing genomic testing	Qualitative Semi‐structured interviews	12 women who underwent ES testing for prenatal diagnosis Mean age: 28.7 years	Participants reported a ‘fear of the unknown’ due to uncertainty for the baby. Participants were uncertain about the process their results would be returned and wanted this better explained to them.
Robson et al, UK 31	80	Determine what factors influence parents' and health professionals' choices and decision‐making about CMA	Qualitative sub‐study Semi‐structured interviews	16 women following CMA testing (5 male partners were present) Mean age: 35.3 years	The majority of participants did not recognise that CMA results could introduce more uncertainty. One participant reported that individuals have differing tolerances for uncertainty.
Rubel et al, USA 27	85	Assess how participants receiving abnormal prenatal genetic testing results seek information and understand the implications of results	Qualitative Semi‐structured telephone interviews	39 participants following abnormal/VUS results (27 women age range: 20‐43 years, 12 male partners age range: 29‐46 years)	Many participants found themselves in a ‘state of shock’ on receiving an uncertain CMA result. Many participants struggled to quantify and interpret the risks associated with their uncertain results. Some wished they did not have the information at all.
van der Steen et al, The Netherlands 32	85	Examine pregnant couples' preferences, doubts and satisfaction regarding the scope of invasive prenatal diagnosis	Quantitative Pre‐test self‐reported survey, post‐test interviews (validated measures)	250 participants (141 pregnant women who underwent prenatal CMA testing and 109 male partners) Mean age: 38.8 years	84% and 44% of participants in the prenatal screening and prenatal diagnosis groups respectively wished to be informed of significance loci if detected, despite the uncertainty they might have brought. Participants who opted for results of a lower resolution experienced significantly more doubt while waiting for results.
van der Steen et al, The Netherlands 33	80	Evaluate the psychological impact of disclosing a prenatal diagnosis of susceptibility loci	Qualitative Semi‐structured interviews	12 participants (8 women who underwent prenatal CMA testing and 4 male partners) Age range: 23‐41 years	Participants reported feeling shocked when they were told about a susceptibility loci, and subsequently feeling uncertain about the prognosis for the child and future. Participants expressed a desire to receive as much information as possible, despite the possibility of receiving unclear results with an uncertain prognosis.
Walser et al, USA 17	90	Identify women's specific pre‐ testing and post‐testing informational needs, as well as their preference for return of various types of results	Quantitative Survey	155 women who underwent prenatal CMA testing	Participants expressed the importance of pre‐test counselling to aid understanding of the test. Participants thought it was important that all types of results were reported, including VUS.
Walser et al, USA 26	90	Explore how couples' understanding of CMA results impacts their decision‐making and level of concern about the clinical implications of the results	Qualitative Semi‐structured interviews	40 participants (28 women, who had received abnormal/uncertain CMA results and 12 male partners) Mean age: 35.5 years	Participants were relieved to discover an inherited variant following a VUS finding, as they found comfort in knowing that the carrier parent was ‘reasonably healthy’. Most participants who received VUS struggled with the lack of information, especially regarding the spectrum of severity for the variant.
Werner‐Lin et al, USA 18	85	Examine couples' understanding and incorporation of findings into decision making regarding pregnancy termination following CMA	Qualitative Semi‐structured telephone interviews	24 participants (12 women who had received a pathogenic/VUS result and 12 male partners) Mean age: 35.5 years	Participants described feeling numb and dazed when they received VUS results, as well as being unaware of the possibility of uncertain/inconclusive results. Many participants wanted support from healthcare professionals. Some participants wanted support from others in a similar situation.
Werner‐Lin et al, USA 28	85	Understand how, in the wake of prenatal CMA testing which identified a copy‐number variant of uncertain or variable significance, mothers interpret, and make meaning of the variant through early infancy	Qualitative Semi‐structured interviews	23 women who had received prenatal CMA results Mean age: 36 years	Participants who received VUS sought services to assess their child's development over time. The uncertainty left them worrying about how to best support their child. Participants who had children with serious health issues reported not thinking about the uncertain result at all with everything else that was going on.
Wou et al, USA 6	90	Investigate the experiences of couples who underwent prenatal ES for fetal anomalies and the amount/type of information couples want from prenatal ES	Qualitative Semi‐structured interviews	29 participants (17 pregnant women who underwent ES and 12 male partners) Mean maternal age: 33.9 years	Participants reported feeling anxious, stressed and overwhelmed whilst waiting for results, due to the long wait for ES results. Participants wanted support from a known healthcare provider, as well as other families going through the same thing.

Abbreviations: CMA, Chromosomal microarray analysis; ES, exome sequencing.