NHS quadruple screening came back high risk (1:23)

[xlaw]

I wanted to share my story to help others, as I found this forum a huge help when I went through this.

This is my first pregnancy, and I had my 12-week scan when I was just over 13 weeks. We were unable to get a NT reading for the NHS combined screening due to the baby’s positioning. So, we opted to have the quadruple screening (a blood test which only screens for Down syndrome) at my next midwife appointment, where I would be nearly 16 weeks.

A week went by after my screening, and I hadn’t heard anything. I assumed my results were low risk, as I was only 33, so I was expecting a letter through the post.

Then one afternoon, I got a call from the maternity unit to say that my screening results have come back high risk (I was just over 17 weeks at this point). At first, I was calm, as I knew that if you score under a 150, you are classed as high risk. However, the midwife explained that the risk for my age was 1:460 (they take your age at time of delivery so I would be 34), but the results from my bloods have increased the risk of Down syndrome to 1:23.

My husband and I were in absolute shock! I cried, my world crumbled in that moment, and I couldn’t believe this was happening. You worry so much in the first 12 weeks because of miscarriage, that we didn’t see this coming, and it absolutely floored us.

The midwife explained that it was only 4.34% chance of having Down syndrome and 95.66% that the baby would be ok, but I couldn’t shift the 1:23 risk from my head.

I was advised that because I was high risk, the NHS could offer me a NIPT test. It is a simple non-invasive blood test which analyses the baby’s DNA through the placenta and is 99% accurate - so we decided to go ahead.

After a long, heart-breaking, and anxious 10 days wait, we got our results…they came back low risk for Down syndrome, Edwards and Patau’s. We are absolutely over the moon!!!

I wanted to share our story to show that there is hope after receiving high risk results.

My advice to others would be to pay for the NIPT test privately if you can afford it. It’s more accurate than the NHS screenings and you can have the test done from 10 weeks gestation. I wouldn’t want anyone to go through what we did!

This is so heartwarming, I’m so happy that your results came back low risk! I hope your pregnancy is going well. I too only got the quadruple due to being too far along for the NT. me and my partner wasn’t in the slightest bit worried but today the midwife called to tell us that we’re 1 in 100, which sent us into mass panic and worry. I’m deciding again the invasive test and opting for the NIPT but still can’t help but worry!

I refused downs testing then got a shock at 20 week scan with echogenic bowel (a marker for downs). This test would have saved me 20 weeks of preparing myself for a baby with downs. I was 37. There was no mention at the time of anything other than amnio which I refused. As soon as he was born, the first thing I did, literally was to check his hands (downs syndrome often indicated by a single crease on the palm). I honestly couldn't believe he didn't have downs. It was not the lottery winning moment you might expect. I spent the next nine months waiting for whatever was wrong with him to reveal itself. He is 10 now and the perfect, healthy, light of our lives.

Sorry you have been through this, but so amazing this test has saved you from further worry. And I love how you come back with this thread simply to help others. Bless you OP.

@SummerHouse happy for you that your boy is perfectly healthy but sorry you had to go through that ❤️

I used Mumsnet a lot when we were going through fertility / first scans etc, so I too wanted to ‘give back’ as it were. We had a normal 12 week scan however my blood tests came back as 1:123 chance of a chromosomal abnormality…. I was 39yrs at the time and after speaking with my bro (who is a dr) he advised that it was probably just my age that pushed the tests to come back ‘high risk’, it is a simple algorithm which when you are older usually comes back high risk. We had our scans at St Thomas’s in London and they offered me the NIPT test which is a blood test which is sent off to St George’s in Tooting. After 7 days I got a call from St Thomas’s to say the NIPT test had come back low risk. I’m now sitting here with my 4 week old baby boy, all fine and happy. If I manage to have another baby I will definitely have the NIPT test before the NHS 12 week blood tests, as the NIPT test is far more accurate!

You can also have a down's syndrome child and they be an amazing person and a brilliant impact on your life.... which is also a heart-warming story