12 March 2016

Rumer's Story, part 7

Considering amnio

Tuesday 26th May to Wednesday 3rd June 2015
21 to 22 weeks pregnant

So there we were, with bad news piled on top of us. I said at the time to my mother: "A baby with problems with its heart, lungs and brain - that can't be good." I'm not sure what our families thought; they had mixed reactions. I think some thought we should or would be ending the pregnancy. I don't know about the rest.

We waited for our follow-up Fetal Medicine Unit (FMU) appointment, hoping for better news from the full MRI report. When the time came, there seemed little to be positive about. Prior to the appointment we had a '3D scan' (see picture below) with Claire Kennedy, the junior doctor. This was part of the research study that we had signed up to at the MRI. They were studying scanning techniques. We had decided to ask to find out the sex, as we now wanted to know, but she was unable to tell us.

I suspect she guessed at Rumer's T18 from this scan: looking back at the images, you can see the classic clenched fists. But there is a hierarchy in FMU, and if she did suggest it to George Donnachie, he never took it on board, and certainly she didn't tell us. I on the other had had begun to wonder. Googling CDH and small vermis brought up trisomy 18, as had the low PAPP-A in early pregnancy. It was beginning to niggle at me, that all these things were linked. I hoped desperately for another syndrome, but when I mentioned my fears to Claire as she performed the scan, the only indication to her thoughts that she was able to give without upsetting the hierarchy (presumably) was, "Mmmmm"! All I knew about T18 was that it was a death sentence, 'incompatible with life', blah, blah, blah.

Note the clenched fists

After the research scan, we went up to FMU, waited as usual and then were shown in. We were given the verbal MRI report and it was better news: they were not able to confirm the diaphragmatic hernia, which suggested that either it was not a severe one, or perhaps was an 'eventration' instead. I knew nothing about eventration, but it seemed less severe than a hernia, and that was how it was communicated to us too. George very much wanted us to have an amnio. He was willing to do it that day. We were not so sure.

Chris and I both knew we wouldn't want to terminate a pregnancy, and we weren't sure what the benefit of knowing would be. The conversation was circular, with George saying that having an amnio didn't mean you had to terminate, and us saying that we understood that but we weren't sure what the benefit would be. We asked for a referral to Genetics and he wasn't keen, despite having offered it previously. However, eventually he agreed. We would see Genetics and then discuss amnio the next week.

I asked which genetic syndromes this spectrum of anomalies was associated with, but George couldn't tell me. I suggested T18 and he dismissed it out of hand, although Claire, also in this appointment, nodded encouragingly. A few minutes later though, looking at my nuchal scan report, he noted the low PAPP-A and low B-HCG and acknowledged that T18 was possible, although he thought it very unlikely.

It wasn't the best appointment. We went home and spent the weekend discussing amnio. In the end we decided that the risk of miscarriage was considerably lower than quoted, and the benefit of knowing our baby had a genetic syndrome would be that we could make accurate decisions about the timing of delivery. Later gestation would benefit the baby's lungs, and if it was small due to a syndrome, we wouldn't deliver early. However if, later on, it was small because of poor placental function and had no genetic syndrome, then early delivery would be safer. Knowing the baby had a genetic syndrome would help us make birth plans, and with negligible risk and some concrete benefit, we felt our baby's best option would be amnio.

We had already decided this by the time we attended the Genetics appointment the next Wednesday.

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