TABLE 3.

Managing uncertainty in pre‐ and posttest counselling

Pretest counselling
Explain the limitations of the technology	‘One of the things we talk about is the limitations of the test which is that negative result doesn't mean it's not genetic. It could still be genetic it just means the technology has a limitation and we haven't tested everything that we need to test'. Singapore 3, clinical geneticist
Explain that there is the potential to receive uncertain results including VUS and/or IFs	‘I explain that prenatally we do not report VUS, that unexpected findings may result. I give examples about the nature of the unexpected findings. It means that all actionable or controllable findings… we report that, because it can have a health benefit if it is found'. Denmark 1, fetal medicine consultant
	‘I let them know that if they choose to do the test it does mean if there is a VUS result it will be reported'. Singapore 4, genetic counsellor
Explain option not to undergo further testing	‘Present other options including the option of doing nothing which is almost always an option and a very important one. A lot of people feel compelled to do something…so validating that as an option is an important part of the consent process'. Australia 1, obstetrician
Clarify with patients whether they want to receive uncertain results	‘I start by addressing how much they want to know'. Denmark 4, clinical geneticist
Posttest counselling
Tailor the discussion to the patients' needs	‘I try to tune into the patients' level of understanding and their specific needs' Denmark 5 clinical geneticist
Highlight what is certain through linking the results from the CMA/ES with what was observed on the ultrasound	‘If the reason for the examination is structural ultrasound abnormalities, then … you can say something based on the result from the test result. Yes, then I know for sure that the child really has something… it can provide more clarity about what you are talking about'. Netherlands 1, clinical geneticist
Highlight that many conditions will have been ‘ruled out' through testing	‘But the moment you have normal results from a particular panel, I say that the chance of an additional problem is not so high any more, because you subsequently excluded many of those disorders' Netherlands 1, clinical geneticist
Explain that uncertainty will always exist in prenatal testing and the role of human genetic variation	‘I would frame it in the context of human genetic variation and how common that is and how variable we all are, because I think that as a background piece is very important'. Australia 3, clinical geneticist
Offer follow‐up appointments to monitor the pregnancy or referring to other specialists	‘I'd offer them a repeat appointment sooner rather than later if they had further questions or wanted to come back and see me, or appropriate referrals if required, depending on the result'. Australia 2, obstetrician
Conduct a review once the baby is born to review the baby's progress	‘If they're continuing a pregnancy, usually I would suggest that they have some sort of review after the baby's born, both to check out the baby make sure things are OK, but also to answer questions'. Australia 3, clinical geneticist
Signpost parents to support groups or psychological support if available	‘If they feel overwhelmed with the result and they need to talk to mental wellness service, I tell them the service is readily available for them'. Singapore 4, genetic counsellor

Abbreviations: CMA, chromosome microarray analysis; ES, exome sequencing;IFs, incidental finding; VUS, variants of uncertain significance