Emilia was born in April. I went on maternity the day the lockdown for the pandemic started.

Initially we had a screening test, which flagged up as high risk. We then saw a specialist for follow up tests and they confirmed Mosaic Trisomy 18. I’d heard of Edwards’ and Patau Syndrome but only that it’s something you get screened for. The very first conversation I had with the midwife was: “Given you’re at high risk of having a baby that will be incompatible with life, what do you want to do?”.

When the tests came back as higher risk, we had a CVS test – we were told that it was 98%/99% accurate and confirmed the Trisomy.

Although mosaicism was mentioned, neither of us felt it was adequately explained. There was a generalisation of the condition as ‘incompatible with life’ as opposed to a spectrum.

I said: “Should we not just at least check and maybe have an amniocentesis because baby looks healthy and the growth is good?”. The baby was actually growing bigger than you would expect for the stage of pregnancy and the measurements just didn’t really tally with what I understood of Edwards’ Syndrome. When I mentioned this to the consultant, she said: “You’re going to be looking for any evidence that you can to disprove your baby is unwell but your baby is critically unwell and all the evidence tells us that you shouldn’t concern yourself with an anomaly like mosaicism”.

Even if there was only a 1% chance of my baby being ok, I wanted to explore that option. We went to get a drink and had a walk around while the consultant chased up the lab. When we came back, her whole presentation had changed and she suddenly told us there was mosaic culture in the placenta and it could either be confined placenta mosaicism or it could be fetal mosaicism but because the ultrasound was looking good she told us to not go ahead with termination despite having had a long chat with us earlier saying: “I’m not telling you to terminate but it’s the right thing to do”.

If we hadn’t pushed for the other diagnosis, I think potentially we may have been pushed into termination.

We declined further testing because we were worried that our baby would be labelled as ‘incompatible with life’ and there’d have been a reluctance to treat her as a baby first and foremost.

Because I’d done so much research, I think I almost earned a bit more respect because they were very careful about what they said to me. The NIPT test for Edwards’ Syndrome is only about 37% accurate but because of how the statistics are cited they say it’s about 99% accurate based on the detection rate as opposed to the positive predictive value. The literature on Mosaicism is very limited because we’ve only just started to see new research that indicates lots of people may be low level mosaic in various conditions without ever realising. Some of the literature even indicates that people who have repeat Trisomy pregnancies, may be low level mosaic themselves.  

In terms of support, my family live quite far away so I couldn’t talk to them in person.

Shaun’s mum helped me a lot when we were told that the baby may not survive and we were being given the option between medical and surgical terminations and inductions. I just cried because I couldn’t even think about what it would be like to terminate. My manager didn’t understand any of the law around maternity rights and when I told him about the CVS test and possible induction, he thought I’d be back at work the next day. I had to explain that it wouldn’t be appropriate to give birth to a child that’s died and then go into work the next day, from a physical or emotional perspective. Thankfully another manager explained that her friend had to have a medical induction and was off work for 6 months.

When it came to the birth, the midwives weren’t going to break my waters until they knew that a specialist was on the ward rota and because of Covid nobody could come in with me, so I was on my own throughout. 

There was this euphoria that she’s perfect and healthy but then there was this sense of back down to earth and a really stressful period due to lockdown.

Emilia was assessed fully in the hospital, being discharged the same day because her Ap score was 10 out of 10. We can’t know that there won’t be other things that come further down the line but she is hitting her milestones.

Apart from a bleed, my pregnancy for Emilia was perfectly normal. It’s likely if I hadn’t had that screening test I’d have gone on to have a healthy pregnancy and healthy delivery, and I wouldn’t have batted an eyelid.

We’re not planning to have any more children but if this had been my first pregnancy experience, I think I’d have found a follow-up pregnancy quite difficult and traumatic. For those moments that are meant to be really exciting, like the 20 week scan, the tension was so high. I think it would have very much changed how I viewed pregnancy and I really admire the strength of women who go through a pregnancy that is impacted by Trisomy.

I think it’s okay for professionals to hold their hands up and say we don’t know everything.  

Read the other Stories in the ‘You’re not Alone’ Exhibition

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