1in 2 chance of Downs Syndrome

[jorisbonsonstoupe]

I've just been told my baby has 1 in 2 risk of having DS AND 1 in 29 Edwards/Patt

Don't know what to think 😔

Hi OP,

I’m so sorry to hear this, have you been given options and some information on which markers have elevated your risk?

Hoping you have good support in real life. Take care xx

Thanks for your reply- my pappa a was 1.1 and the other one was very high but can't quite remember how high. I'm going for CVS. At the scan the Fold was only 1.5mm so I'm surprised.

Five years ago I was high risk (1:10 I believe). Largely based on a very high HCG result, although my NT was at the higher end of the accepted normal range too.

I had a CVS, it wasn’t as bad as I was expecting. I didn’t watch and it was a little uncomfortable but not terribly painful. I took it really easy afterwards and got my results a few days later. It was all clear and I then had further scans with a feral medicine consultant to ensure no other issues. My son is a very healthy and happy five year old now with no problems.

I hope you get the same outcome xx

Fetal medicine consultant! Not a feral one!

Feral- that made me smile I'm 40 so expected the risk to be high just not the highest and for both

Hugs and a hand hold, OP. My thoughts are with you.

My DS was 1:2 downs and 1:5 Edwards Patau. I had a CVS and the results came back negative. It was a horrendous time and my heart goes out to you. He is now 10 and fine. I do not want to give you false hope but i also want you to know that, really, you have to wait for a CVS and result.

Agonising and i wish you the best of luck.

Thank you and yes, we can only have the tests and wait. I guess our brains prepare us for the worst to protect t us x

Yes, self preservation mode. You will soon have more information, though it feels like an enternity. Hugs

Thank you sofa

Sorry to hear about your results. I was given greater than 1:2 and also very high chance for Pateu and Edwards. Sadly, the CVS confirmed T21. My story doesn't mean anything. You have 50% chance of a different outcome what I really hope you do. I only want you to know you aren't alone and give you a virtual hug because I know how difficult this time is. The waiting is the worst. Be kind to yourself xx

@Littlehoppe thank you, I want to hear all sides so I can mentally prepare. At least I won't have long to wait until we know for sure. It was a complete shock, this is baby number 5 for me but my partners first. I am still in denial thinking they must have got the test wrong, they don't work etc.

I was high risk for Pataus and Edwards. CVS initially confirmed diagnosis of what was thought to be full trisomy 18, long-term culture 3 weeks later was mosaicism.

Due to healthy ultrasound and mosaic result, we had amniocentesis a month later (couldn’t do so earlier due to obstetric reasons). Initial amniocentesis was all clear. Long terms culture detected low levels of mosaic trisomy 18 that were too low to detect in rapid results.

Our baby has been born perfectly healthy although the pregnancy was a rollercoaster with very dire prognosis being put to us and termination put forward as “an option” more times than we could count (no disrespect if anyone has chosen this route, everyone’s circumstances are different).

Thinking of you and wishing you all the best xx

My colleague was pregnant in her early 40s and had a 1:2 chance of DS. Her daughter was born without any genetic abnormalities. I was pregnant at 42 and had a 1:240 chance and normal NT (can’t remember the exact measurement) and my daughter was born with DS. This type of screening is notoriously inaccurate and incredibly stressful.

Sorry - posted too soon. I’d push for a NIPT, OP. Best of luck.

I would agree that NIPT does offer a more refined screening, particularly for older women. However bare in mind it is still only a screening and can result in still relatively high false alarms/high risk results.

If the uncertainty of screening is problematic, invasive testing may be a better option for you than more screening. However no prenatal test can provide a full picture, as my own circumstances demonstrate X

*bear in mind

Hi Sarah, what did you have? X

@jorisbonsonstoupe I went for CVS and amniocentesis. For Edwards and Pataus, particularly for my age group at that time, NIPT would not have provided robust results. Also I would’ve had to have gone private.

I've got CVS arranged for Tuesday- does that give more or less definitive results?

CVS and amnio are absolutely definitive, OP.
I am terribly sorry that you're here, in this place of complete and utter anxiety. I've been through it twice... consecutive pregnancies. My outcomes were not happy ones but I've had friends at more risk than I who had very happy outcomes. The CVS will tell you where you stand, definitively.
It's a bit premature, but do keep ARC in the back of your mind. I didn't carry on with my pregnancies (that was the choice I made but many others don't make this choice). The ARC forum was a lifeline for me. Also the ARC website is very informative regarding antenatal testing.

I'm thinking of you and sending you all of the luck in the world for Tuesday. www.arc-uk.org/

Just to add, the CVS is as difinitive as the amnio, it just doesn't test for as many disorders as amnio. But it rules out the most common trisomies.

@jorisbonsonstoupe unfortunately no prenatal test is definitive. As per my pp explaining my bizarre/mixed results.

Make sure you await long term culture results. Our initial CVS indicated full Edwards. Yet we went on to have a healthy baby.

Circumstances including confined placental mosaicism or vanishing twin syndrome for instance, can mean placental chromosomes do not reflect baby’s. It is unusual but more common than people realise (at least a lot of evidence increasingly suggests this).

Thank you. I was completely unaware of this!

@jorisbonsonstoupe it’s one of a few reasons the limits NIPT so much. NIPT aims to test cell free dna from placenta. Although maternal health issues can also minimise NIPT accuracy. Additionally there is no long term culture to test for mosacism with NIPT x