1 in 2 chances for Down syndrome

[Whatiswrongwithmeffs86]

Currently awaiting Amino, been given 1 in 2 chance for DS. NT measurement of 4.3mm and high blood results. I feel like im waiting for the inevitable to be confirmed. Could you tell me your experience, good or bad, if you don't mind sharing? I have a long wait until 2nd January to get the amino and need to stop being so anxious.

I'm sorry that no one has replied to you.
I don't have an experience to share. I wanted to say that you deserve some replies.

I have no experience with this but I agree you should have more replies so I’ll have a go at responding.

I think you’re perfectly entitled to feel anxious; you had an image of how your pregnancy would be and now this might not be what you thought. Down’s syndrome is a spectrum and although there are many who thrive in life and live independently as adults; there are also people who require lifelong care and have severe behavioural issues. I say this with knowledge because my cousin has the latter kind of Down’s syndrome. My cousin and my aunt’s lives are difficult according to my aunt (my cousin is non-verbal so I don’t know what they would say).

I think you need to do a lot of research in order to make an informed choice if the result is positive. There is no right or wrong choice. Many people with Down’s syndrome are absolute rays of sunshine who light up the lives of others. Some are on the other end of the spectrum and life is challenging. It’s whatever you feel would be best for you; mothers’ lives matter as much as unborn children.

I’m talking as though the test will definitely show a Down’s syndrome result. Maybe the test will show a normal result. I think you need to prepare for a positive for DS though so you have time to process how you feel and so you feel informed about DS by the time you get the test results. Hopefully you can make the right decision for you. I hope you get the result you want.

I don't have anyone with DS in my family, but I work closely with someone who does and I work in special needs education.

You might find this useful: https://www.downs-syndrome.org.uk/

I have taught several children with DS and it's clear that although attitudes are changing, a lot of prejudice still exists. Look up Mar Galceran, Tommy Jessop, George Webster.

I appreciate that you must be extremely anxious right now. Wishing you all the best.

Hand hold from me. It is a horrible wait for the amino.

I had relatively high odds of Down Syndrome with DD so opted for an amniocentesis too. There was no alternative in those days.

I think that by choosing to have the amniocentesis I had already made the decision that I would terminate the pregnancy if I had a positive diagnosis.

I already had DS and didn't want his life to change for the worse by knowingly having a disabled sibling.

I know lots of people will argue that it can be a positive experience, and very fulfilling, but that wasn't my observed experience.

I worked as a TA in a class with a child with Down syndrome and then a couple of years later we had his younger brother. I felt so sorry for the brother because all of his parents' time and energy went into their older son. The younger brother was a handful because it looked like that was his only way to get attention. In the UK they had to fight for every resource which must have been draining.

I also had a lovely colleague years ago who had a younger brother with Down syndrome. She met a gorgeous Australian dentist and wanted to marry him and emigrate but had huge pushback from her parents. Their expectation had always been that she would take over responsibility for him when they no longer could.

I didn't want to knowingly put that on my DS.

Keeping fingers crossed for you. Only you can decide what would be best for your family.

I've no experience OP but I will say I didnt have any extra tests when pregnant with my DD I was worried about DS but I knew I would love her regardless so choose not to find out . Have a look at huddy buddy on Instagram for a bit of a positive spin . X

My main main concern with my Dr hst would be the associated cardiac defects which would probably sway me the most having volunteered with children with downs for years and then looked after term as patients. If the echo was fine id continue (but equally appreciate I'm somewhat skewed as my life plan was always to adopt disabled kids

Oh I'm so sorry OP I don't have the right words but wanted to say how sorry I was to read your note. I hope someone will be along soon with some experience as you have requested

Hey Op,

I’m sorry you’re in this position. I received a “high chance” NIPT test result which was confirmed by a CVS.

We spent a lot of time researching things. I spoke to ARC (Antenatal Results and Choices), the Down’s Syndrome Association (who were very balanced in their information), I read books “For the Love of Oscar” and “Don’t be Sorry” which a mum who has a son with DS had written. I also joined a “Great Expectations” FB group to get more views from parents and spent time researching local nursery / school and support options.

Ultimately we decided to terminate at 16 weeks which was a truly heartbreaking decision but was the right one for us, and we felt, for our son. (We will have limited wider family support and worried who would care for our son when we were no longer able).

(I take offence to comments like “we would have loved our child regardless” as we love that little boy with all our heart. It’s an impossible position to be in and no one knows what they would do until they’re in it).

ARC are now closed until the NY but I’d recommend speaking to them once they’re open. They will provide helpful information and will not be persuading you one way or another.

I had a 1:35 chance of DS with my DD, so not as high as yours, but quite high. Had a CVS at 13 weeks (I think) but had already decided to terminate if it was positive.
My work involves spending a lot of time with people with LD.
In my head, I was ending the pregnancy, the wait for the letter was agonising.
It arrived saying she was 46XX.
My head was a mess, I didn't get any support because she was 'normal' and I (can't explain why) became quite depressed throughout the rest of the pregnancy. She arrived, perfectly healthy, normal delivery , pretty much on her due date.
It took me about 4 months to appreciate her, obviously I cared for her, fed her, etc, but the bond really struggled.

I think my point is, don't make any decisions until you're absolutely sure of the result.

Much love, and good luck.

Hi lovely. Just wanted to give our experience. We had an NT reading of 4.5mm and was also given a 1 in 2 chance of DS. We had the CVS as we wanted to know and make an informed choice. We got the first set of results about 1.5 weeks later to say all clear, no DS, Edwards etc. About 2 days later got the full set; all clear.

Im now just over 29 weeks and have a very active bambino in there! All other scans have come back clear. Development etc looks to be spot on for a “normal” (hate that word, but you know what I mean) pregnancy. Got two more growth scans booked before my due date to continue the monitoring. Can’t fault the NHS care we’ve had.

Im not going to sit here and say don’t worry, because I remember not being able to eat or sleep or anything when waiting. Try talking and resting as much as you can. Take it one step at a time, that’s my biggest bit of advice.

Sending all my best wishes. Let us know how you get on ♥️

I’m sorry you have had this news and have this wait over Christmas.

Remember, whatever decision you make will be the right decision for you, and there is no wrong or right decision. I know families who have terminated after a Downs diagnosis, and I also know a family who have a daughter with Downs Syndrome. Both feel they made the right choice.

Do some reading if you can and take the time to think how you feel about every outcome. I hope you manage some peace over Christmas.

Thank you to everyone who has replied. It's definitely comforting to hear all your experiences. I went to fetal medicine on 20th December for the CVS, but they couldn't do it as it wasn't easy to get to the placenta so I have to go back on the 2nd January for amino. I have such mixed feelings, like I should expect the inevitable with of odds of 1 or 2 but all my scans so far are looking OK, two halves of the brain, heart & stomach look OK. I have 2 beautiful children who are 6 and 3 and are so excited for Christmas tomorrow.

That's amazing. Thank you so much for sharing your experience, and I am so pleased to hear your positive outcome. Wishing you the best and I'll update 💕

I'm so sorry to hear your story, and thank you for sharing. I imagine it must have been an extremely difficult decision to have make. I am still unsure what I would do if DS is confirmed. I sometimes think I wouldn't be able to through a termination but then I also think the care they need will impact greatly on our other 2 children. I am just so anxious abd confused.

So sorry to hear you’re going through this @Whatiswrongwithmeffs86 :( I went through the same thing at Christmas 5 years ago. The waiting was agonising.

Our son had an NT of 4.7mm and a greater than 1 in 4 chance of T21. We had the NIPT which came back low chance and then the amino and echo were clear. He arrived safe and well the following July - it was put down to ‘one of those things’. It was such a traumatic time though and you go through every eventuality. We also had an little boy so had him to consider too. Arc were great, I’m sorry they’re not open over the Christmas period.

I coped by trying to distract myself for short periods and I found colouring helped a bit. But I also struggled to be present for my little boy over that time which still makes me sad :( My advice though would be to give yourself so much love and however you feel is ok ❤️

I'm thinking of you and sending so much love xxx

youll be able to find my full story on here OP, we had 1:5 chance, confirmed with a CVS. Terminated at 16 weeks.

I have no regrets and currently pregnant four months later with a low risk baby.

Let me know if you want me to try and tag you in my original post. It’s very detailed and thorough of my experience.

good luck - I hope you get low risk results - I will say I have heard it can happen so don’t give up hope.

I also felt like I was glad my wait time was filled with hope instead of dread.

cxx

This must be very hard. Be kind to yourself x

I'm sorry that you're in this position and have to endure the waiting due to the time of year.
I was fortunately not in that position but knew even when trying for a pregnancy that I would terminate if a condition like Downs was found.
It's all very well people talking about how so many people with Downs are delightful and can live relatively normal lives but what if they can't?

It's not even about what happens in childhood, it's what happens when their parents are no longer around. This has happened in an in law's family ,where the elderly mother who had cared for her disabled middle aged daughter all her life, suddenly became ill and could no longer do it. The family had never discussed what would happen in these circumstances so no provision had been made and the siblings had to take on the responsibility and the sister had to go and live with one of them.

Knowingly having a disabled child and expecting their siblings to care for them when you are no longer able to seems to me to be the height of selfish behaviour.

@NotThisOldChestnutAgain - you have explained exactly how I feel. I don't want to burden my children with having to look after a disabled sibling. But at the same time, I really struggle with the thought of terminating a pregnancy where the baby has a good chance of survival. I feel very conflicted. If the baby had Edwards or Pataus, then I may feel different. My odds come back at 1 in 5000 for both of those.

@jmm499 - Thank you for sharing your story, I'm so glad it worked out for you. It gives me hope that there may be a light at the end of tunnel.

Hi @Whatiswrongwithmeffs86 I was in your shoes this time last year.
12 weeks scan showed 4.6mm NT and bloods came back 1:3 for DS and 1:4 for Edward’s and Pataus. I went for a CVS at 14 weeks, the result to show all clear for the 3 main trisomies came back quite quickly, then the full array came back around 2 weeks later, again all clear.
Due to the clear chromosomes, they were concerned about a heart issues, so we had multiple scans at the Royal Brompton in London, again all clear.
My darling son was born in July at 37+1 and is a picture of health. Other than a tongue tie and a high palette which made feeding a little difficult to get going, he’s an absolute chunk of a 5 month old now.
There is hope, holding you tight right now x

@Maybepossibly22 - Thanks for sharing your story, I just can't understand why somany people have these high odds for chromosome issues, and fortunately, the baby is healthy. Did they ever say why they thought you had such a high chance?

@CSSL7 - Thank you for sharing g your story, and I'm really sorry to hear you went through that. Congratulations on your pregnancy,I hope it all goes well for you this time

No rhyme or reason given - all I can assume is the high NT (my boy does have a thick neck, but so does DH) and my age must have combined to give a high reading.
In my personal life I have heard of a lot of people in similar positions, most have received positive outcomes but of course some have received trisomy diagnosis.
Someone described it to me as “if you were betting on a horse, would you think that a 66% chance of winning was good odds?”
That statement kept me going through the hard days but the not knowing is so painful. I really do feel for you, and pray that you get answers very soon.

Thank you all for sharing your experiences. It has really helped, so thank you, and Merry Christmas to you all