Very high risk for all 3 trisomy’s - handhold needed

[Maybepossibly22]

Looking for some advice/a handhold

I’m 13+2 with my 3rd pregnancy, 1 healthy DD and a MMC in 2022. 12 weeks scan last Wednesday saw a NT of 4.7mm but no other abnormalities. We had the results back from the combined test today that we have a 1 in 5 chance of DS and 1 in 6 of Edward’s and Patau. Papp-a and bHCG all within normal levels so the NT and my age of 35 I assume have pushed the risk up.

I have a CVS scheduled for Wednesday to get some definite answers but I am spiralling with anxiety.

has anyone been in a similar situation with a positive outcome? I’m distraught at the thought of losing this baby too

Hello, I don’t want to read and run. Have they offered you the NIPT (Harmony) blood test which is highly accurate? They can do that before CVS I think if you want to do that first.
no advice but just wanted to say those odds are still on your side. There is still a high chance the baby is fine

OP I'm sorry to hear this. I was given a high risk for downs for DC2 (although not as high as yours), I had an amnio and all was fine. Good luck for Wednesday, I remember how anxious I felt.

I’m sorry to hear this. I had a CVS and it’s a little uncomfortable, but not painful. Make sure you factor in some time afterwards. They suggested I should rest and I might have some mild cramps, and it was fine but I was very tearful with the anxiety of it all.

Theres no point telling you not to worry, but there is still a 4/5 chance your baby doesn’t have DS (and lots of support and advice if it does).

Thank you for the responses so far. I’m not terribly concerned about the DS, if baby has it then that’s no issue for me - I work in a school and have met some wonderful children who live very full lives with DS. My main concern is the Edward’s/Patau which I know is incompatible with life.

Not entirely sure how I’m going to make it to the CVS and the wait for results.

Hand hold - I'm sorry your facing this, amd theres still every chance your baby will be perfectly healthy, statistics are just that.
also, incase it helps to know, even a trisomy 13 or 18 diagnosis doesn't necessarily mean incompatible with life, though lots if medics still say that - its an outdated notion. Lots of trisomy children can now survive and live wonderful lives,. Please look on facebook for Fierce Georgia on my mind - she has trisomy 18 and is doing amazingly, she is 7. Actually she is progressing much better then my own daughter who has a rare chromosome disorder that would never be picked up on these tests.
Often the parents do have to fight for the treatments needed though rather then just comfort care, but there is a very active community on social media i beleive who would help you if you do need to cross that bridge.

Hi @Maybepossibly22 I'm sorry you're going through this, it's incredibly stressful. We had the same NT measurement as you about 3 weeks ago now, did NIPT, CVS and have had the first fetal echo. All have been clear so far. The next hurdle is a second heart scan and the usual 20 week NHS scan. My advice is to take it day by day, try to keep busy and share with friends and family for support. Do things which bring you comfort, hang in there xx

Hi there
I'm sorry you are going through this too. I had a very high NT and my risks were given as 1 in 5 for Edwards/Pataus, 1 in 8 for DS. I had to wait two weeks for an appt for a CVS. In the meantime I had a NIPT and it came back high risk for Edwards. Baby was very poorly so we had a TFMR at 14 weeks and didn't wait to do the CVS. A post mortem confirmed T18 and other conditions.

Handholding for you and I hope you get some answers soon

Sending you courage for the next few days.

I can't help with the waiting which will be just awful but just to say I have a child with DS and happy to talk/signpost anytime.

If it turns out you are carrying a child with Edwards/Pataus and you decide to continue the pregnancy there are support groups out there and amazing stories of children living longer, better lives with these conditions that I would have thought possible. Whatever the outcome and whatever you decide I wish you peace and calmness.

Thank you for all your support. Feeling more anxious this morning about the CVS tomorrow and the following results. I do hope I get the results before the weekend

Good luck for tommorrow @Maybepossibly22 🤞

if you find your anxiety is spiking speak to your doctor there is medication you can take for anxiety that is safe when you are pregnant. I’ve had some friends that have had to do that.

Hello OP, wrote a very similar post myself yesterday. We are high risk (greater than 1:2) for Down Syndrome and 1:49 for Edwards/Patau - I know just how emotionally drained you are. Scoured mumsnet for any positive stories with Papp-a as low as 0.12 MoM but there isn’t much.

I had the NIPT test (waiting results) but will opt for the amnio next week before making any decisions. It’s heartbreaking and so unfair - I feel your pain! Xx

We had similar, but had amniocentesis as slightly further along. It was a very hard time, and even after the results were normal, I still worried, but baby was born with no issues. Sending you a big hug.

Lots of love to you

Thank you for all your support. CVS went well, I’ve rested today and have tomorrow off work to recover - luckily I let my manager know as soon as I found out I was pregnant so she is aware of all the ups and downs we have had so far. Keeping fingers tightly crossed for the results to come back quickly.

I'm so sorry OP and I hope you get good news.

I'm sorry you're going through this, it's such a stressful and worrying time and can completely relate!

We had a 1:31 chance for downs on the combined test (I'm 39, 3rd baby) we went for the highly accurate NIPT test and got a lower chance result for all 3 conditions, so we're now 25 weeks gone with a healthy baby girl!

Just remember that your chances of having a healthy baby are still far higher than there being something wrong, that's what I held onto whilst waiting for our results. Good luck xx

Sorry, I don't normally police peoples language and I am completely pro-choice and support the OPs right to do whatever she wishes, for whatever reason, with her own body.

However mine was also a 'healthy pregnancy' and I gave birth to a 'healthy baby girl' too - Down's Syndrome isn't an illness, a baby with DS is automatically 'unhealthy'. This language is unhelpful, esp whilst so much is unknown for the OP as she is waiting.

Hello @DownRightAmazing, this is a genuine question coming from someone trying to educate themselves. What word would you ideally like people to use?

@Maybepossibly22 thinking of you - the waiting period is so hard.

Hi @ColdButSunny genuine questions always welcome :)

The word is 'typical' - I went on to have a typical pregnancy. Much nicer than 'normal' and far more accurate than 'healthy'.

Whilst we are at it I and many other parents hate the use of the work 'risk'. Humans associate the word risk with danger, so talking about a pregnancy having a certain risk of DS is very emotive. The DS community is working with the medical community to embed the word 'chance' instead. No less accurate, no muddying the waters - the test indicated your chance of having a child with DS. My daughter is no risk, she is wonderful

@DownRightAmazing - I'm also trying to educate myself on down syndrome given the high likelihood that my little baby also has DS. Can you point me in the direction of any online information particularly on the challenges of raising a DS child and the support that is available? Everything I've read has been positive so far but I assume there must be some challenges and I'd just like to prepare myself.

Thank you - it's appreciated.

@Hoping4amiracle yep, happy to - would never pretend there were no struggles! Have PM’d you.