Table 3 Timeliness and its impact on parental decision-making in pregnancy.

Q1

“A lot of the information is only becoming available after 24 weeks…if they pin their hopes on getting a diagnosis to be able to justify the option of a termination and that result comes through after 24 weeks, it’s quite possible that with the absence of a genetic diagnosis the option of termination is no longer available.” Professional 7 — FMU consultant.

Q2

“If we find an anomaly at twenty weeks and then we start doing foetal echoes and MRI scans, and then we decide to do an exome, they’re after twenty-four weeks by the time we get the result back or just before, and they’re making rush decisions.” Professional 60 — Clinical geneticist.

Q3

“Time was against us so if there was an issue, we didn’t want this pregnancy to go on much longer, you know, naturally 24 weeks you’re very far down the line by this point so I think we had to act quite quickly to think what was the best thing to do.” Parent 40 — mother, no findings result from pES (live pregnancy).

Q4

“So anyway, ten to fourteen days for the results… by the end of the fourteen days we still didn’t know anything, we hadn’t heard anything back…we kind of were at the deadline of having to make our decision. So, my hospital got us in for a meeting, explained the statistics, they put a plan for the process of termination and then I think, even by the time of the termination, we still didn’t have the exome sequencing results.” Parent 1- mother, partial diagnosis from pES (termination of pregnancy)

Q5

“…obviously one of the main criteria for having an exome is that it would alter the management of the pregnancy in some way and [the local FMU clinicians] don’t get that…so we’ve got one ongoing at the moment that has got catastrophic brain findings, absolutely, there’s absolutely no way this is going to be a normal functioning child. The parents will not terminate, don’t want to terminate, want an exome, I said ‘well what’s the point…what is the purpose of this very expensive test if it’s not going to change the management… there is limited capacity and it’s a very explicit requirement, it must have the potential to change the management of the pregnancy”. Professional – 46, Clinical geneticist.

Q6

“That was one of my worst fears, that we would have no answer [from pES] and then they would be asking us our decision on whether we were going to terminate or not based on no hard facts”. Parent 2 — mother, no findings from pES (termination of pregnancy).

Q7

“So, we definitely notice that people’s understanding of that test is better news to not find anything, which may be true but isn’t always true. And so I think the problem is, when people understand a little bit…you’re spending more time unpicking what they actually understand already…and unpicking all of that is actually sometimes harder than starting from nothing.” Professional 52 - Genetic counsellor.