Prenatal genetic testing

[FortheBeautyoftheEarth]

I wondered if anyone have any stories (especially positive ones) related to prenatal genetic testing.

I am pregnant with my first baby (Due March 2024) and had some bloods taken last week to test for risk of Down's syndrome and Edwards and Patau. I also had my 12 week ultrasound on the same day.

Was told ultrasound all looked normal/positive which was reassuring and that I would either receive a letter in 2 weeks if blood tests were normal, or a phone call this week if they flagged that we might be high risk.

So I received a call from one of the screening midwives yesterday and was advised that our risk of Downs is 1 in 141 (cut off is 1 in 150) and for Edwards and Patau it's 1 in 91. I understand that this is considerably higher than average which is normally 1 in 4000 or something like that. So that makes me really worried.

Obviously dh and I are very worried but I am trying to be calm and take comfort in the fact ultrasound didn't flag anything. I am have the NIPT blood test on Thursday which I am advised is a much more accurate indicator if these conditions are very likely or not very likely. But as they are genetic tests will have to wait 7-10 days for those results to come back 😧So I'm not looking forward to the long wait.

I'm not sure why I'm posting really, I guess I'm just looking for reassurance really. Has anyone else been through this?

Hi, please check the Antenatal testing topic where you will find a lot of cases where NIPT came out normal after a high risk combined screening test. There is one long thread where people have posted their results from long back and it is quite reassuring.

https://www.mumsnet.com/talk/antenatal_tests_choices/1384335-High-risk-screening-Normal-NT-but-high-hCG-Low-PAPP-A

Hope all goes well for you xx

Because of my age (42) I was told that I would most likely come back high risk with the combined test even if scan is OK. I had my bloods taken a couple of weeks ago and had the scan yesterday but annoyingly the baby was not in the right position to take a good measurement, she took one nonetheless to have an idea (and looked like 1.8mm) but wanted a better image so asked me to come back next Monday. Frustrating much. In the meantime last week I did the NIPT test which include a scan where she told me that unofficially things looked fine. I was quite deflated yesterday after not being able to get the scan done properly but then got the results from the NIPT to confirm that it was all low risk. I am still going ahead with the scan next week as I would like to know the nuchal measurement.
How old are you if you don't mind me asking? I know the wait is excruciating but I'm sure you will be fine!

Thank you both so much for your reassuring words and I will check out the thread as suggested.

@TTCbaby2023 I definitely can empathise, it's excruciating waiting but that is really good news about the Nipt test results. That must be a relief for you.

I am 36 and will be 37 when baby is born. I am quietly optimistic. I remember back in the late 90s when my Aunty was pregnant with my cousin, they thought she may have a genetic abnormality and even suggested termination but that was definitely not something my Aunty and uncle wanted to do. Anyway it's a good job they didn't as she was born healthy and is a beautiful and thriving young woman today.

Wishing you all the best. I will let you know how it goes. Hope the scan goes ok!

Hi,
I'm generally rubbish at giving updates but I know how helpful it is to see on outcome when looking into this kind of thing.
I received a call from screening midwife this week with my NIPT results advising the chance on each condition is low (extremely unlikely). It is obviously a massive relief. Last week when I went for the tests she really did act as though it was almost certain and it really raised my anxiety! So if you're going through this take heart, it can be a good outcome.
The midwife last week said she thinks they will probably replace the PG tests (algorithm) with Nipt eventually as it gives a more instant and accurate result, but they are very expensive so at the moment they only offer them to people flagged as potential high risk (under 150)....I do think that would have saved me a lot of worry but understand the need to prioritise!

@FortheBeautyoftheEarth This is excellent news! I'm very happy for you and understand it is a great relief! After the rescan, NT measurements were very good. The risks though (and yes my age was a huge factor and it says underneath in the comments ) was 1 in 62 for T21. I didn't pay too much attention in the end as I already had the NIPT results.
Maybe for women from a certain age they should go directly to NIPT. I went ahead with the scan as I wanted to have that measurement for extra peace of mind.
Now you can relax!!

That's GREAT news @TTCbaby2023 Yes it is good to be able to relax a little now :-) and yes the other test results are a bit meaningless when you have NIPT. Yes I do think that would be a better approach, but maybe they are worried about missing some.

Hi! I'm so glad you got positive news.
I received a call from my DR yesterday that the blood results for Downs suggested a 77% risk. Hubby and I are freaking out. We have a call with a genetic councillor today to discuss options and what we want to do going forward. I just feel sick to my stomach 😭

Whilst the figures are considerably higher, the risk is really tiny. Less than 1% chance for DS and just over that for Patau's. I'd try not to worry about it, but easier said than done of course 💐