High risk for downs syndrome

[Dan1986]

Hi all,

My wife and are expecting our first child. We are very excited! We had a viability scan and confirmed everything was ok and the GA was 7w4d.

We went back on Monday for the usual 10 - 14 week dating scan and screening. The CRL was at 78mm so baby looks like it is growing well and the computer said the GA was 13w5d. The sonographer left it as 13w though as that matched what the viability scan said.

My wife is 25 and the scan went well, it was amazing seeing thr baby pushing itself around.

The NT was taken and measured 2.8mm, they struggled to get a measurement and they took a while before settling on that, it ranged from 2.1mm to 2.8mm. The sonographer said it was the high end of normal but still ok. Nasal bone was present and he took measurements of the skull and checked the organs and no concern was raised.

We went off for the bloods and at no point did we consider anything would be wrong or implied that anything could be wrong by the staff. We left elated and happy we had just seen our baby moving around with a strong heartbeat.

2 days later my wife called me and said we had a high risk for downs syndrome.. 1/144 chance. (I understand this is on the better end of the scale but still to us we were in shock).

We have always decided that unless the baby is very ill we would always continue with the pregnancy.

We went in and the midwife spoke to us.and went through the options, she briefly explained that due to a higher NT and low PAP-A (0.37 cut off 0.4) probably caused this. They suggested the IONA test that she had on Thursday so waiting for the results. I wanted to have this as if the child had downs we could prepare the best we can.

The issue is I just cant understand why this has happened.

I'm annoyed with myself that I made my wife have these tests as my naivity 6 months ago making comments that I couldn't support a child with downs and that I'd abort it made us have these tests. I felt that the NHS did not prepare us at all for this as they said itll be fine, she is young and healthy..

I'm hoping everything will be ok either way and we have a healthy baby but I am racked with guilt over my comments and wish we never bothered with the tests. We both have made a pact that regardless of the results we are not doing the combined test again unless anomalies are raised during a scan..

Sorry for long post just needed to vent.

[DippyAvocado]

Anything over 1 in 250 is considered a high enough risk to offer further testing, but actually 1 in 144 is still low odds. That NT measurement is still within the normal range, albeit towards the higher end. The reason for the testing is to allow people to make an informed decision. Does the IONA test give you a definitive result?

I had a risk of 1 in 73 with my second pregnancy, given as a combination of very high HCG levels, a slightly high NT measurement and my age. I had an amnio as advanced blood testing wasn't available at the time. There were some risks with the procedure but I would rather have known than not known. My DC was perfectly healthy.

[Dan1986]

The IONA is 99% accurate, it's not 100% like the invasive procedures.

The way it was explained-

Combined test (NHS test) is like seeing a drunk person leaving the pub and they are stumbling around and smell of alcohol, you assume they are drunk.

The IONA and other NIPT test are like going up to that drunk person and brealthalising them and saying they are drunk.

The invasive tests are like giving yhsg drunk person a blood test and knowing yeh are drunk.

[Gilbert82]

Hi, I don’t have experience of a “high risk” screening test as we declined the screen for Down syndrome (we knew it wouldn’t change the course of the pregnancy so didn’t see the point). We had a postnatal diagnosis of Down syndrome following the birth of our little one. If you have any questions feel free to send me a message. Wishing you all the best for a healthy pregnancy

[Pineapplefish]

OP, it's understandable that you are feeling shocked and upset, but I believe your anger against the NHS staff is misplaced. They didn't prepare you or raise concerns because until the information had been combined from the different tests they didn't know.

Good luck with the results from the IONA test. I hope it all works out well for you.

[Mintjulia]

Op, like dippyavocado, I was older than your dw when my tests came back as 1 in 25, and I opted for an amino, which showed my baby (now 11) to be healthy.
I didn’t find the amino uncomfortable and it meant I didn’t spend the rest of my pregnancy worrying. It’s worth considering if it will allow your wife to relax and enjoy the next few months. I hope all is ok.

[Tini17]

The IONA / any NIPT will give you another probability, not a certainty one way or another as they are screening, not diagnostic tests (unlike CVS/Amnio). They (Cvs/Amnio) also look for other issues, not just Down’s.

As PP said, your anger towards the NHS staff is very much misplaced - they had no way of preparing you for what they didn’t know the tests would show. Equally, they don’t know any more than you do at this point in time, which is a probability, a ratio.
Wishing you all the best with the results and the pregnancy, the waiting and not knowing is agonising.

[Boobahs]

No advice about the furthers tests but I had the QUAD test with both of mine. The first result was 1/41 chance of Downs, the second one was 1/144. Both of them are perfectly healthy.

I hope things work out for you x

[oreo81648]

My friends baby had this issue and was born perfectly normal

[stucknoue]

Whilst maternal age increases risk of downs it does just randomly occur, my friend was 29 and it was before the prenatal tests were brought in (only amino existed and it was only offer to mums over 35 and carries a 1% miscarriage risk). My friends dd is now a young 18 years old lady and she's amazing, a credit to her mum who never allowed officials, medics, teachers etc to limit her daughter, she's at mainstream further education college doing something to do with film editing

[Dan1986]

Thanks for all your responses.

I am definitely not angry with the NHS. Just thought I would be more informed about the tests and how the ratios are worked out.

We will hopefully get the results this week from the IONA. We have decided not to proceed with any further invasive tests as we do not want to risk anything with the baby. I called ARC that explained that the IONA if it comes back high risk it will detect 9/10 ratio for downs syndrome.

[Dan1986]

Just an update, we had our results back today and they came back low risk. Thanks for all your responses.

[sleepyhead]

That's great news and must be a relief after a worrying few weeks.

My hospital used the term "higher risk" rather than "high risk" (the test had come back 1:27) which I found helpful to try to stay calm - I was higher risk than most, but ultimately the most likely outcome was that ds2 would not have Down Syndrome (he didnt).

[Boobahs]

Glad you had some positive news, enjoy the rest of your pregnancy and the baby when they arrive!

[Daisydoo1767]

Hui

[GummiberryJuice]

I was 24 with my first dc, I had a 1/42 result and was offered an amnio, which I declined as I new it wouldn't change the course of my pregnancy and thought I didn't want to have any further risks. Later in my pregnancy I had sleepless nights etc spoke to my gp who rang the maternity ward and I got sent for a very in depth scan, which showed everything to be in normal ranges and a consultant who explained all the reasons besides downs syndrome that result in a high risk result, 1 of which was testing too early, bleeding in early pregnancy.....
It was 18 years ago so I cant remember them all but I do remember thinking it was too many and regretting ever ticking the box for what was then called the double test without putting any more thought than getting another opportunity to see another scan. It turns out I was tested too early and my dd did not have down syndrome.

Glad all is well, relax and enjoy the excitement of waiting to meet your little one.