# 17 The results are in...

Sitting back in the clinic once again, The familiar caring eyes that were looking at me over her COVID mask, were the beautiful eyes of the wonderful midwife who supported me after my New years eve nightmare. She gave us the option to rush a CVS (chorionic villus sampling involves taking a sample of tissue from the placenta) which needs to be taken by 14 weeks or AMNIOCENTESIS (involves taking a small amount of amniotic fluid containing fetal tissues sampled from the amniotic sack) which can be taken usually between 15-20 weeks. I chose to be investigated sooner rather than later and 3 days later we went back to Liverpool, walking through the building that created our little miracle baby, but not the worrying corridors that we ever wanted to visit.

The combined results of the NT measurement and my blood results came back as 1 in 20 for Trisomy 21 (Down syndrome) 1 in 50 for Trisomy 13 (Edwards syndrome) and 1 in 760 for Trisomy 18 (Patau’s syndrome).

Upon arrival we sat nervously waiting in the reception of the fetal medicine unit. There were women surrounding me that all had much larger bumps than mine in all shapes and sizes. My husband knows me so well, he squeezed my hand reading my very thoughts, “would my bump ever get any bigger?”

We were fortunately soon called through and I began to shake. We waited for the consultant, I needed someone with a heart and not someone who looked at me as just another patient. Luckily I couldn’t have asked for someone more understanding. After a few questions she soon started with the scan. The baby was still in a distressed state, curled up extremely awkwardly and not making it easy to be seen. The outcome was pretty much the same as the previous scan, they couldn’t get the best of views to really see much. She could make out fluid over the body and could make out the cystic hygromas but not to the quality required. I was then given an internal scan and this is when our hearts sank. With a picture perfect view, there was the fluid over the baby’s entire body area including its head. The cystic hygromas were sticking out its neck on both sides, one slightly larger than the other at 6.5mm big (now when you take into consideration the baby was the size of a lemon, this was devastating to hear). The length of the legs were measured which were slightly on the short side but it was flagged up that there was an extremity of bilateral talipes (club foot), we could handle this if this was to be the worst outcome, however then they looked at the heart. There was a clear ventricular septal defect, both my husband and myself looked at each other as we saw blue coming out of the heart in the heat map on the screen in front of us. We knew that the chance of the baby having a heart defect would be high risk from what we were told and had read, but we really hoped it would be wrong. Once the scan was over, they kindly told us that it’s looking highly likely the baby has chromosome abnormalities and that they absolutely think that the CVS is the right decision to do.

We were taken into a private room where we were talked through the procedure once more (a needle was going to be inserted through my stomach, into the womb and guided to the placenta using the image on the ultrasound scan. A syringe is then attached to the needle, which is used to take a small sample of cells from the placenta. After the sample is removed, the needle is removed.) I was given water to drink to fill my bladder again and we signed all the paperwork.

Here it was once again, that outer body experience. I knew my brain was helping me walk, but I had no sensation of actually doing it. The corridors were moving instead of me, or so it felt.

Back in the room, the consultant and doctor were waiting for us. They lay my bed flat so I could no longer see the screen (nor did I want to). My husband sat up near my head kissing me on my forehead through his face mask. Once they were happy that they were ready, I was warned of a sharp scratch as they inserted a needle of anaesthetic, almost instantly followed by the CVS needle. They pre warned me that it was going in, which was fine, but I will not forget the sensation of it going through the wall of my stomach muscle, it was a popping sensation that took my breath away. My husband was rubbing my shoulder and I calmly asked him not to make me move, as his loving touch was making me move more than I wanted to, as I concentrated at the tiles on the ceiling. After a few minutes now feeling the soft touch of my husband's fingers in my hair I could feel the slow trickle of tears fall down each side of my cheeks almost running into my ears. The needle was slightly being moved around inside to get the right position and after a sample was taken, they checked the amount under a microscope. There was not enough, so with an extra minute or so an extra sample was taken out and they were happy. Out came the needle and they were cleaning my stomach and making sure the bleeding was slowing, I didn’t care about that, I wanted to know if the baby was still ok!?!? Within a couple more minutes my lovely consultant was scanning me and there was the baby, heart still beating. It was ok. The risk of a miscarriage caused by a CVS is less then 1%, but with the way this pregnancy was going, i was petrified. I walked out of the room fine as we went back to our private waiting room. Within the next 10 minutes I went from feeling fine to unbearably uncomfortable. I thought I was going to be sick, I’m guessing the sickness was just the whole shock of the day's findings and procedure combined. It didn’t help when my husband couldn’t stop kissing me and telling me how proud he was as he had never seen such a big needle!!!

The doctors knocked on the door and they sat opposite us. They both looked at us with woeful faces through their masks. I will never forget the heartfelt head tilts when we were told that with all of today’s discoveries, we have a very poorly baby, with everything pointing towards Down syndrome. Depending on the quality of life that our baby would have, taking in consideration all of its complications it already is appearing to have, they offered us support for a termination which we would be able to do right up until it’s due date.

All we could do now is wait for the results which would be ready in 3 working days and 2-3 weeks for the microarray results (A microarray test is used to detect the expression of thousands of genes at the same time). Depending on the results depends on what we do next. But it’s likely that I will be regularly checked to keep an eye on the growth and health of the baby and check on its heart every couple of weeks.

With it being 8th January, a Friday, we had another weekend to get through before any results would start. On Wednesday 13th the phone call finally came. Everything was normal. It is not any of the trisomies. We sat in disbelief. We were so happy but still lost and concerned. Now it was the wait for the microarray results which we knew could still be 2 weeks wait.

I was turning 16 weeks pregnant on 21st January and hadn’t heard from my community midwife since my 8 weeks meeting. Feeling anxious and upset I contacted her for support and to inform her of what was happening and knew that I should have a 16 week check up. Sadly she would not see me, I was offered a telephone consultation instead. Let’s just leave it as I was extremely disappointed by the lack of support and my telephone consultation still left me in a limbo. NO checking of my blood pressure, no listening to the heartbeat and no measurement of my bump.

When it reached nearly 3 weeks of waiting for the microarray results, I contacted the caring midwife from our local hospital to find out if she had heard any results. I was phoned instantly back and she told me that it was unusual not to have heard anything. She could hear my anxiety and distress that I was getting myself in. She offered me an appointment for the following morning to have a check up I was so desperately wanting. (I was told I would be regularly checked, but with no results, nothing was happening after the cvs).

My husband and I were met in the waiting room as she took us to her office. After a quick chat about what she could offer from today and taking my blood pressure (that was great), we had decided to try using the Doppler to see if we could hear a heartbeat and the consequences and decisions we could make if there was no longer a heart beat. I jumped on the bed and she told me to try and relax, clearly feeling my tension. I had prepared myself that it may take a while to find it, but she found it instantly. There was the best sound I have EVER heard. Strong. Steady. Fast. Around 150 beats per minute. It was the best moment of this already crappy year that’s for sure!

Phew! Baby is still fighting. She turned the conversation to me, she spoke to me about taking some time off work, talking to ARK (a support line) and even maybe taking some antidepressants as I had struggled in the past with my mental health due to grief. I don’t want any of it, I just want the RESULTS. She tried to chase up the hospital once more but with no answers or results.

On Monday 1st February we rang the hospital and I finally spoke to a midwife. She said there were still no results back yet, but i should hear by tomorrow or the day after. When it got to 4pm on Wednesday 3rd February with still no news I phoned again. Still no news. On the morning of Thursday 4th Feb my phone rang, I was informed that the lab had “technical difficulties” and that they were having to run the test again. I broke down at work. Devastated by the news. “Did this mean that there are problems with the DNA?!?!” I didn’t ask at the time. That day felt like the darkest grey cloud over me. I was so lucky to have such a supportive group of colleagues around me and to come home to the open arms of my incredible husband who needed the hug every bit as much as I did.

Unexpectedly early on Friday 5th February (4 weeks after the CVS) the phone call we were waiting for called...it’s ALL CLEAR. Results are negative.

We now have our anomaly scan booked in in less than 2 weeks and the week after we will be travelling back to Liverpool to have a scan where a cardiologist from Alder Hey children's hospital will be present to check the baby’s heart and we can then discuss a plan of action into where we stand and what may need to happen.

Our friends and families love and support over theses scary weeks have meant more than we can even put into words during this scary and unknown time. All we can do is carry on and hope that this baby will keep fighting like the little warrior it’s already proven to be!!

I will keep you up to date with hopefully more good news 🤞 ....