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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Original poster

1 out 2 chance of downs syndrome

29 replies

Sunny388 · 22/08/2023 13:34

I am currently 16 weeks pregnant, it was possible to check for any symptoms in my 12 week scan due to babies position.

I had a quad blood test which I have now been informed there is a 50% chance of the baby having downs syndrome.

I have now had a NIPT test done and have a week wait for the results.

Has anybody had any experience of this and went on to have healthy babies.

I feel very worried.

OP posts:
SlayB · 22/08/2023 13:42

I had a fifty/fifty chance but didn’t take any tests. Had a healthy baby though the previous baby did have the condition
( unbalanced chromosomes) there is always hope.

Think about IVF if there was a 50% chance of a healthy baby people who be jumping at the opportunity. We were told at the time it’s about 20%. Have a word with a genetic counsellor ours were provided by the hospital.

Blazzingsaddos · 22/08/2023 13:44

I had a high risk and had a healthy baby.
I had an amniocentesis for the diagnostic test.

Pr1mr0se · 22/08/2023 13:49

Personally I wouldn't continue with that level of risk. Hopefully the NIPT results will offer you a better option.

lemonsaretheonlyfruit · 22/08/2023 13:51

I was 1 in 2 and everything was fine (I had the amnio the same day) . I do remember the agonising wait though. I hadn't hear so I called a day or 2 early and they read out the result there and then. I would def call them ahead of time just to see. Good luck

MrsPatterson2014 · 22/08/2023 14:13

I also had a 1 in 2 chance. Had amino same day also and everything was fine. It is an agonising wait though. Good luck.

LDB1985 · 22/08/2023 14:25

Really sorry you’re going through this. I had to have the quad rather than combined test too and it came back as high risk, though not as high as yours. We then had the NIPT which came back low chance but the wait was awful and to be honest I struggled for a month or two to come to terms with everything. Now have a healthy 4 month old baby lying next to me.

We didn’t really tell anyone what we were going through for fear of judgement which really exacerbated feelings of isolation. Not sure whether I’d do that differently in retrospect so something for you to consider.

One thing to remember is that the quad test is notoriously less reliable than combined test!

Wishing you luck for your NIPT results and I hope you’re kind to yourself and get the support you need over the next few weeks while waiting for your results!

Original poster
Sunny388 · 22/08/2023 18:17

Thanks for your responses, reassuring to hear x

OP posts:
yarnmum · 23/08/2023 19:46

Hi, just thought I would share my experience. I have 4 children already, my eldest being 20! I am having a surprise pregnancy at 42 years old. We were given the NHS screening test which came back at 1:18 and NF was 2.99 mm.

I refused amnio due to risk of miscarriage and opted for NIPT instead Came back as high risk. I have researched and researched and researched and accepted baby will have DS. We are under care of fetal medicine and baby is doing fabulous. Currently 30 weeks. I experienced fear, anxiety, cried lots etc at first but have now accepted it and am actually excited. She is just a baby at the end of the day and will just be a different journey with this one. I am determined to make it work and for her to have a full and happy life.

I would say deep breaths, give yourself plenty of time. I am sure the results will be fine but if they do come back like mine, just give yourself plenty of thinking time to process it all as it can be a shock xxx

abyssofwoah · 23/08/2023 19:55

That’s such a tough wait. I had a high risk at screening with one of my pregnancies and really struggled in that week waiting for the NIPT result. Easier said than done but do try just to focus on getting through the week, not on thinking through the what ifs.

sabrixx · 15/02/2024 22:59

@MrsPatterson2014 @lemonsaretheonlyfruit

So happy to hear everything turned out well for you. i’m actually in the same situation, with a risk of 1 in 2.

Just wondering, what was your NT and blood results if you remember?

My NT is 3.5mm, PAPP-A 0.94 mom and HCG 3.88 mom

Midwife said the NT and HCG are very high so i’m super worried, i’ll have my CVS next week but it’s such a stressful situation, if you could share your story it would be great!!!

Original poster
Sunny388 · 08/04/2024 02:23

Just thought I would give an update. I gave birth to my baby girl who does have down syndrome. She is the most precious thing in the world and I am 100% commited to giving her the best life I can. They're times when I do worry about the future but I am learning to take things one step at a time.

@sabrixx a charity that has really helped is positive about down syndrome. If you search them up and join their Facebook page they can send you some resources that may help.

OP posts:
Aswellisnotoneword · 08/04/2024 02:34

Congratulations on the birth of your daughter @Sunny388 , I hope you're both doing well Flowers

PleaseletitbeSpring · 08/04/2024 02:36

Congratulations on your beautiful daughter. My cousin was Down's and a total joy. I'm sure she will amaze you with her achievements, like my darling cousin.

R41nb0wR0se · 08/04/2024 02:42

Congratulations on the birth of your precious daughter! 💐

Original poster
Sunny388 · 08/04/2024 02:51

Thank you so much for your kind words, we're both doing well. 😊

OP posts:
MissCaptain · 08/04/2024 03:04

Congratulations!!! What wonderful news🥰Have a look at outwith_millieanna on Instagram
An amazing fabulous and wonderful girl/young lady xx

Chaoseverywhere · 08/04/2024 03:38

Congratulations on your baby daughter. It must have been such a difficult time for you but now she’s here you must be so in love with her.

I'm just posting to say that my children go to a mainstream primary school with children with Down’s Syndrome and autism and there is so much diversity and inclusion. When I was a child i remember that all the children i knew who had any sort of disability, were sent off to separate schools. I think inclusion is a really big step forward in acceptance and education in society.

Of course a child needs the best education and care suitable for their needs and mainstream may not be the best fit for everyone but if it can work I think it’s so positive for everyone.

this is a few years ahead for you Op- But time goes by very quickly!

WhatTheFuk · 08/04/2024 03:57

Congratulations, that is so lovely to hear. 💕

SD1978 · 08/04/2024 05:15

Congratulations to you, and your family xx

HerkyBaby · 08/04/2024 06:01

Congratulations on the safe arrival of your precious daughter. You will be a fabulous mother and daughter team and I’m sure will navigate the journey ahead with determination, joy and love . Xx

SquigglePigs · 08/04/2024 06:12

Congratulations on your beautiful daughter.

Urgenthelplease · 08/04/2024 06:18

Congratulations, she's so lucky to have such a wonderful mum. Best of luck with your beautiful newborn.

user1480947435 · 08/04/2024 06:36

Congratulations on the birth of your daughter!

I have a 7 year old boy with DS - it was missed on the tests so came as a surprise. He is amazing and we can't imagine him being any different now. He is brilliant fun and has bought the whole family closer together.

curlupandvanishforever · 08/04/2024 06:41

Congratulations! Enjoy your baby cuddles 🥰

ThePerfectDog · 08/04/2024 06:48

Congratulations on your beautiful baby girl. This post has made my morning, such lovely news 🥰🥰👶👶🍼