After reading a really informative and comforting post on mumsnet after looking all over online for some reassurance I felt compelled to share my husband and I’s experience in the hope it can offer someone else the same. It’s our first pregnancy.
I (32F) am currently 17 weeks pregnant and have just received the all clear after 5 weeks of hell.
I quite naively believed if I made it to 12 weeks then everything would be fine - my main concern being a 1st trimester miscarriage. At the 12 week scan we had an awful experience with an ultrasound technician who seemed unable to form full sentences, make eye contact or give us any information beyond ‘raised NT measurement’ and ‘4mm’. When we asked what that meant he said it could indicate Down’s syndrome but that someone would be in touch as he just did the scans. He sent me off to give blood where a totally disinterested woman told me to expect results in 2 weeks! We left our 12 week scan feeling scared and totally out of our depth. After spending all afternoon down a rabbit hole researching ‘raised NT measurement and downs’ I booked a private NIPT test for the same night. I just couldn’t face waiting two weeks for information.
At the private NIPT test the technician measured the NT at wildly varying amounts. The lowest being 3.3mm and the highest being 4.6mm. He recorded 3.3mm as the official and took my blood to test the foetal DNA.
This was a Thursday and I went home feeling reassured by nothing else other than the fact that these NT measurements seemed to vary quite a bit depending on who’s taking the measurement and the position of the baby etc. as all the measurements were taken on the same day! The NIPT results were due in 5-7 working days.
The following Monday (not two weeks later!) we got a call from the hospital, asking us to come it. We both knew that couldn’t be good. Once we arrived we were taken into a consultation room and presented with our Combined screening results. This was when reality really hit us. Seeing greater than 1 in 2 chance of Down’s syndrome was heartbreaking. Our chance of Edward’s and Pataus was 1 in 5000 so not at increased risk. But to find out that anything greater than 1 in 150 is higher risk and we had greater than 1 in 2 was devastating. We were talked through our options and as we had already paid for the private NIPT and the fact that a ‘lower risk result’ on an NHS NIPT meant you wouldn’t then qualify for the diagnostic testing (CVS or Amniocentesis) made our decision easier and we booked in for CVS two days later (13 weeks pregnant).
The combined screening looks at various factors (Age, ethnicity, diabetic status, smoking status, NT measurement and pregnancy hormones in your blood). I was advised the raised NT score of 4mm (anything above 3.5mm is worrying but below 3mm is ideal) and the fact my free beta hCG hormone was 2.25 MoM (above 2) is what had driven this result.
The CVS was unpleasant and I was devastated to hear that due to how my placenta had grown (down the back, parallel to my spine) they couldn’t get a sample. They booked me in for two weeks time for Amniocentesis which can be performed at 15 weeks onwards. Physically, I was sore for a few days afterwards but mentally I was totally drained. I felt like I was in limbo and trying not to get too attached to my baby while looking and feeling more pregnant by the day. Life went on hold and I didn’t want to make any plans because I suddenly didn’t know what the future looked like.
10 painfully long days after the 12 week scan and private NIPT test (I was now 14 weeks pregnant) we got the NIPT results back - which came back as ‘lower risk’. I tried not to let this give me hope as the NHS guidance says that where you have a very increased risk of Downs (between 1 in 2 and 1 in 10) then the NIPT is less reliable and can produce false negatives. I just didn’t know what to think and spent hours online trying to reassure myself.
The week after I went in for my amniocentesis (15 weeks pregnant) , which was less painful than the CVS and after two attempts they were able to get the sample. I took this opportunity to ask our consultant whether she could see any physical indications of Downs though it was early (ossified nasal bone, femur length, heart and kidney function, shape of the head etc. here is the most informative link I found - https://zayacare.com/blog/can-ultrasound-detect-down-syndrome/) which she confirmed there was no sign. She did however seem surprised when I told her the results of our private NIPT - as if she had expected the result to be higher risk which was worrying. Amnio Results take 3-4 working days for downs, Edward’s and Pataus with a more in depth screening taking a further 7 days. I was also booked in for a foetal cardio scan at great Ormond st. as a raised NT can also be a sign of a cardiac anomaly.
The odds of having a healthy baby felt slim to none with these obstacles to navigate and such bleak odds.
That weekend I spent more time researching combined screening and found the mumsnet post that inspired my own and the OP had linked an online cloud based version for free. https://www.prenatalscreeningcloud.com/
After putting my information in, it came back with a 1 in 11 chance of Down’s syndrome - which I admit isn’t great but definitely better than 1 in 2! I was questioning how accurate the combined screening truly is or whether our result was down to human error?
The following Monday (the 4th working day) we got the call. No downs was detected from the amniocentesis. We were clear for Edward’s and Pataus too. On the Wednesday we went off to great ormond st. And had the heart scan - after a tense 15 mins we again were told that everything is as expected but that we would need to come back at 22 weeks (in Jan 2024) to check that everything was developing normally. And finally yesterday - we recieved the final results for the full screening results of the amnio - and that was also clear.
To be perfectly honest, while I feel elated and relieved there is a part of me that questions how we came out so high risk in the combined screening and yet all results have come back clear so far. I almost don’t want to believe it. And I don’t think that fear will leave me until our baby arrives. I just hope I can help someone else going through a similar experience, even if it’s just to feel less alone and to know it may not always be the worst outcome!