High probability nipt result, just looking for other people's experiences and a bit of a hand hold

[milki]

Got the news today that despite the NHS combined test coming back low risk, the nipt test I had done has come back high probability for Downs. I wasn't convinced by the combined screening numbers even though low risk because of my age mostly, so opted for the additional testing, but felt quite optimistic. Came back down to Earth with a painful thump today. I'm just looking for others who have been in similar situation and can maybe offer a bit of support in the wait for CVS next Tues and then decision making. Have only told my very best friend irl and obviously my partner abut the pregnancy so feeling a bit lonely.
Thank you.

Hi @milki I’m so sorry to hear you feel alone at this uncertain time, I can relate to how time stands still between antenatal tests 😔 My situation was different to yours as in I went for the harmony test before the NHS screening but they picked up that our baby’s NT measurement was high. So I had a painful wait until the results, and in the meantime, my NHS screening came back as greater than 1 in 4 chance of DS. It was so difficult waiting for news - mine happened over Christmas and I found it so hard. We had a low probability result from the NIPT but then was advised to have further testing because of the high NT. They couldn’t do a CVS because of the location of my placenta so I had to wait a further 3 weeks for an amnio to be done. I can relate to feeling alone and time dragging 😥 Nothing was found from the tests but I did find the waiting pretty traumatic. Thinking of you and holding your hand at this time xxx

Thanks for replying @jmm499, sorry to hear you had such a difficult time too. I'm just feeling immense sadness I think, I don't really have any hope but still couldn't base any decisions on a probability test so am resigned to have to wait to be sure. It's just going soooo slowly and the temptation to Google is not helping! x

Thinking of you so much @milki ❤️ It must have been a shock to get that news today. Is your CVS this coming Tuesday? Another supportive group is the Babycentre UK antenatal test forum. Have you heard of ARC? They are meant to be amazing at listening and even if you don’t know what to say I’ve heard others say they felt a lot better for the call. Sending you a huge hug xxx

I’ve never faced this so I hope you don’t think this insensitive, but would it be the end of the world if your baby had DS? I have a vague memory that Edwards or Patau’s would be awful, but DS is slightly different I think?? Sorry if it’s totally insensitive of me to ask this, but I guess it’s another perspective to think about ?

Aw thank you @jmm499 My m/w sent through details of Arc but I haven't contacted them yet, and I will have a look at that forum.

@Holly60 not insensitive at all, I think it's good to try and stay optimistic! And of course Downs isn't the end of the world, I'm sure there are lots of positives- I guess that sadness I'm feeling is at the weight of the decision about whether it would be right for me and my family to take that journey. It just feels quite huge and overwhelming- I'm older (which is why I went for additional testing) and have teen daughters, and the impact on them would be greater, I'd worry more about having a child that was dependent all their life when I'm older to start with, that kind of thing. I just thought I'd avoided all the heaviness of thinking about it all with the low risk combined test but turns out not! x

I just wanted to send good thoughts and let you know I'm thinking of you

I went through high Edward's / downs results last year. I luckily had my CVS very quickly and only waited 4 days for the results ( over a weekend) genuinely the longest 4 days of my life. . My CVS came back clear . I really hope the same happens for you .

Oh @milki .... I'm so sorry you're going through this. It's horrendous.

Unfortunately (or fortunately...) NIPT is very very accurate for T21. I was in a similar position last year (NIPT before NHS and results on the same day, NIPT came back >99% for T21 and NHS came back 1:40, so high probability.) Our baby's NT was absolutely fine and his nasal bone was present, so all the typical soft markers for downs were not present. However he had an omphalocele (intestines growing on the outside, similar to umbilical hernia), which can be a stand alone issue or a sign for chromosomal abnormalities, yet rarely T21.... CVS confirmed a full copy of T21 (so non-mosaic) and we decided to TFMR. It's such a personal choice that only the parents of the affected baby can make, no one else can judge this, it just takes too many things into account and, quite frankly, is no one else's business.

I can also recommend the ARC. The forum however is only for parents who have gone through a termination for medical reasons and it's a very safe place.

There are quite a few women on here who have gone through T21 diagnosis. Some have decided to continue the pregnancy, some have decided to end it. I'm sure that you will find a lot of support here, whichever you route you decide you want to go.

Yes @NoCallerID I completely agree - only you can make the choice that’s right for you and your family, there are so many things to consider and like you say, it’s only your business. Although we didn’t get that news, we did have many conversations in preparation for potentially receiving it and I can wholeheartedly agree that until you’re there, you can’t really begin to understand (and I recognise that we weren’t even in that position in the end).

@milki we are here fir you, I really hope you find some comfort from the experiences of others. You will know the right decision for you and your family. I’m sending you so much love in anticipation of your CVS and for the weekend ahead which isn’t a welcome break when you need services that aren’t operating 😥 Hang in there xxx

@milki I'm sorry you're going through all this stress - I hope that you get a good outcome from the CVS and that your baby is healthy.

I'm not an expert in T21, but I have had family friends with T21 and have also worked as a support worker with people with T21 and other health problems. If you think it might be helpful, I'm happy to share some anonymised experiences through PM?

Thank you all ❤️

Sorry to hear you are going through this OP. It is only a choice you can make but can I suggest that you get in contact with charities information about caring for a child with Down's syndrome? It isn't something I have gone through but I have friends who have children with downs and they say they are the best thing to ever happen to them and their wider family - even with the concerns for their child's care as the parents get older etc.

Sending you a hand hold as you work through your decisions and remember that any choice you make will always be the right one foe you and your family.

Hope you're doing OK, OP. I would recommend ARC very highly. My son had Patau Syndrome so it really was the worst case scenario, but while I was waiting for the results (we got a very late diagnosis) I found them very helpful. They are very real and won't give you false hope, but are also very sympathetic and will listen to you and advise on the situation.

Thanks for all the replies. I'm feeling ok- still lots of sadness but I think the shock has worn off. Had an amino this morning, I thought it was going to be CVS but I think because I'm 16 weeks tmrw they opted for amino as quickest, most accurate result. Scans showed short femur but no other soft markers. I just think the NIPT result is so likely to be right, margin for error is much smaller because I'm older and as far as I can gather they either see an extra chromosome in that test or not?

Anyway, I think going round in circles trying to best guess is futile- I will know for certain in a few days. Im determined to put all my efforts into being kind to myself instead, big hugs with my partner and appreciating the two daughters I to already have, even when their teenage antics are driving me up the wall! I now realise how lucky I was to have easy, straight forward, uneventful pregnancies with them.

I'm also completely inspired by the strength PPs have shown in facing similar situations, thank you so much for sharing. I'm heartbroken for us all and hope people are doing ok xxx