Hi new poster here. I just wanted to share my positive news story in case it helps anyone going through something similar. All I wanted was to find positive stories to help get me through the rollercoaster! I am 37 years old, have a DS aged 3 and a DD aged 2. I'm now 24 weeks pregnant with my third and final baby (a boy)!
I had 7 week private scan to check for heartbeat and another private scan at 11 weeks to put my mind at ease (I had a missed miscarriage at 11 weeks which was picked up at 12 week scan in 2017 before my DS was born). Nothing out of the ordinary was picked up. At the 12 weeks NHS scan a large (9mm) cystic hygroma was detected almost entirely covering the baby's body (nuchal translucency also of 9mm). We were given 95% miscarriage rate. We were obviously heartbroken. A lot of tears were shed thinking that we were either going to miscarry or we would need to terminate. We were told that there was a small chance if the CH resolved by week 20 then the fetal death rate reduces to 2% which is in line with a normal pregnancy. The combined screening returned a 1:5 chance of the baby having downs syndrome.
We had a week from hell where I feel like I read every scientific paper, every thread on mumsnet and other resources to try and educate myself on the situation but also try and find positive stories where the CH had resolved and a healthy baby had gone on to be born with no complications. Whilst thin on the ground, there were some such stories.
We returned the following week for follow up scan. We and the doctors were amazed to find that the CH had completely resolved leaving a slightly high nuchal translucency but was seemingly normal. However because it had been detected at 12 weeks (regardless of fact it had resolved) this was a marker for chromosomal issues and further testing was recommended. I had the NIPT blood test, the results of which were given within 10 days (another agonising wait). They came back as low risk for downs, edwards pateus. The NIPT is i belive around 98% accurate. We opted out of having amniocentesis on the basis of the 1% miscarriage risk and the fact that CH had resolved.
At 16 weeks, we returned to the hospital for check up. Issues with heart were picked up - said that it looked like the pulmonary artery was going the wrong way. However the consultant wasn't a fetal cardiologist and the heart is the size of a 5p piece and the artery a grain of rice and the baby was moving around a lot so it was difficult to see. She referred me to Manchester (closest special fetal medicine unit). She managed to get me an appointment to see the specialist 2 days later. The specialist was also struggling to see because it was quite early (they usually scan from 18 weeks) and wanted me to come back for 20 week scan and also fetal echocardiogram with the other fetal cardiology specialist for a 2nd opinion. Another huge dip on the rollercoaster. I knew that the NIPT only tested for a small number of chromonosnal issues and heart defects are often a marker for other chromosomal issues (particularly given the large CH detected at 12 weeks). Another agonising 4 week wait until 20 week scan. We again opted out of amnio at that point but said that if anomalies were picked up at 20 weeks we would have the test.
At 20 weeks, i returned to Manchester. Husband couldn't come as he had covid (i was negative) so my sister came with me. The nuchal fold this time was 8 mm (the cut off was 6mm). I was devastated as I was really hoping that everything would have resolved by 20 weeks which massively reduces the chances of there being a problem. I had a 2nd fetal echocardiogram and his words were "if you walked in off the street today and I didn't know your history/ your background to this pregnancy), I would consider that this baby's heart is developing normally. So that was good news. But we still had this marker for chromosomal issues (although no other structural issues detected). I called my husband and we opted for the amniocentesi which i had that day. I'm not going to lie, I found it very uncomfortable and nerve wracking - thinking I could be putting baby's life at risk but I was assured that the miscarriage rate at the hospital is actually lower than the average rate across England of 1%. A major reason for miscarriage post amniocentesis is infection. Anyway, it went as smoothly as it could do and was over pretty quickly. I just needed to rest for a few days, no heavy lifting etc. If you're going to miscarry you usually do within 2 weeks so I felt like I had another wait along with the 2 week wait for results. 2 days later I had a call confirming that the rapid results had come back and confirmed that baby didn't have downs, edwards or pateaus. 10 days later the full results were back confirming that no chromosomal abnormalities had been detected. Whilst good news, the amnio doesn't test for all the potential genetic issues. I was told to imagine chromosomes like a filing cabinet. The amnio checks that there are enough drawers in the cabinet and there aren't any deleted or repeated ones but it can't check all the thousands of peices of paper in the cabinet (the genes). Whilst science is improving all the time it cant at the moment check for all the spelling errors etc on the pieces of paper. I was referred to genetics team but I decided to elect for no further testing as I was told that by the time they've figured out what it could be I'd be ready to have the baby. I said that it was causing me too much anxiety and I wouldn't do anything with the information anyway at this late stage. I was advised to have one further test at 24 weeks which I went to yesterday. Good news! The nuchal fold has reduced to 5.9mm and is withing normal range with no structural issues detected!
So my reason for posting is to explain what I've been through in case it helps others but also to explain that there are so many tests available now that sometimes issues can be detected that resolve throughout the course of a normal pregnancy. the anxiety and stress this can cause can be significant to parents. If i'd have had my 12 week scan at 13 weeks the CH wouldn't have been detected and I wouldn't have had to be on this rollercoaster which I've been on for the last 3 months. In no way am I criticising the care I've received from the medical team both at Preston and Manchester - they have been amazing. Thorough, caring, approachable, taking a lot of care of me. But please don't think that just because you get a large nuchal translucency reading or even a large cystic hygroma detected that that means you're going to lose the baby or have major defects etc. This could've simply have been the lymphatic system kicking in late or some other blockage which has resolved. These babies and our bodies are incredible. So there you go... for all you middle of the night Googlers desperate for information and positive news stories, I hope you find some comfort in this post. I'll post again once our baby boy is born but all is looking good and I hope I can go on to start enjoying this pregnancy now. Xx