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Pregnancy

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

1 in 16 chance of downs syndrome

225 replies

Mummyo1 · 13/09/2023 18:35

I've spent hours crying. I've had the call to say my scan was normal, babies fluid on the neck came back as normal but my blood tests showed high hcg and low papp a. I'm low risk for Edwards and patau syndrome but high for downs syndrome 1 in 16. I've got a nipt tomorrow. Anyone else similar and be okay? I'm heartbroken 💔

1 in 16 chance of downs syndrome
OP posts:
Mummyo1 · 21/09/2023 16:47

@OddlyFramed you'll always have someone who doesn't agree with you or who will make you feel bad, but it would have been a life changing decision and I was so heartbroken as this baby is so wanted so my relief is not like anything I've felt before! Thanks for your support x

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OddlyFramed · 21/09/2023 16:53

I’ve been through some similar decision making, and people with an affected child will always reply differently to those who currently don’t have children. Those with a child affected will always reply positively as they will never say otherwise as it’s saying their child shouldn’t exist in their head. And their answers will be different to those without an affected child/not yet a parent.

congratulations on your pregnancy!

Sunshineclouds11 · 21/09/2023 16:58

So pleased for you!!

supersonicginandtonic · 21/09/2023 17:21

@Mummyo1 I am so so pleased for you and your family. Best of luck for the rest of your pregnancy x

BreatheAndFocus · 21/09/2023 19:46

Mummyo1 · 21/09/2023 15:17

Just had my call for my results, I burst into tears as she told me it was good news and I'm low risk for all 3! It's been one of the hardest weeks I've ever faced and I appreciate you all being there for me xx

Great news! I hope you can relax now and enjoy the rest of your pregnancy 💐

Mummyo1 · 21/09/2023 20:06

I'm back to feeling excited again!! So pleased

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Itonlytakesaminute · 21/09/2023 20:09

Really pleased for you, try and enjoy your pregnancy now!

User69611 · 21/09/2023 20:54

YAY! Congratulations, what great news xxxxx

MrsR87 · 21/09/2023 23:13

Mummyo1 · 21/09/2023 15:17

Just had my call for my results, I burst into tears as she told me it was good news and I'm low risk for all 3! It's been one of the hardest weeks I've ever faced and I appreciate you all being there for me xx

I remember the feeling of relief. So glad you’ve had good news. Now enjoy the est of your pregnancy 😍

catwithflowers · 22/09/2023 06:18

@Mummyo1 Really happy for you. Good luck with the rest of your pregnancy 🥰

TurquoiseDress · 22/09/2023 13:26

That's wonderful news for you OP, not surprised you burst into tears, so much stress waiting for the results.

At least you can relax (sort of!) and try to enjoy the rest of the pregnancy.

Sorry you've had to deal with some less than helpful posters along the way.

TurquoiseDress · 22/09/2023 13:28

This thread made me think back to when i had my the Harmony test with my now almost 5 year old

I was low risk based on the NHS tests but even so I was so nervous about receiving the results...so I can only imagine how it felt to be told you're high risk and waiting to hear the results

FlowersFlowers

Blixem · 22/09/2023 22:39

I'm so pleased for you. Enjoy your pregnancy x

Mummyo1 · 23/09/2023 07:30

Thanks everyone! I keep randomly remembering baby is fine! And I just smile. Such a hard thing to go through but I've been supporting someone else for the last 4 days and they are saying it helps. So hopefully she can get the reassurance i did x

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Mummyo1 · 12/10/2023 12:44

Just found out baby is a girl! Maybe the hcg theory is right!

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IcakethereforeIam · 12/10/2023 12:47

Congratulations 🎊 😊

usernamealreadytaken · 12/10/2023 13:11

What wonderful news, congratulations!

Mummyo1 · 30/11/2023 08:25

@Good2chat any update your end?

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Mummyo1 · 30/11/2023 08:28

I thought I'd post an update here, I'm 24 weeks on Saturday I developed carpal tunnel, bells palsy and luckily I've been heavily treated. I found out my numbers, NT: 2.4 pappA 0.3 and BHCG 1.9 mom, had my 20 week scan a few weeks ago and the consultant said everything was fine, no markers at all. Now I'm just on 150mg asprin, extra growth scans at 32 and 36 weeks, then at weeks 39 we are having a c section! Hope all is well with everyone!

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MotherCooke · 07/03/2024 19:07

Hi everyone, just happened upon this, I have a 1-17 chance of DS. Scan was fine, NT was fine, hormone levels have come back as : hCGb: 2.77 PAPP-A: 0.65. Not sure how these affect the result/likelihood of DS.
I'm 40, overweight and this is my 4th pregnancy. 3 healthy children so far..

Mummyosc · 22/03/2024 19:29

I'm so sorry that you felt this way about having a child with Down's syndrome. My little boy was diagnosed at birth, all my scans were perfect and nothing was picked up. He is the best thing to ever happen to us, he has no health issues, met all his milestones and just the most perfect little boy. If I could go back in time to when I found out he had it, and cried, not one tear would have fallen. They are real life angels and Down's syndrome is totally misunderstood x

HowcanIhelp123 · 22/03/2024 20:59

Mummyosc · 22/03/2024 19:29

I'm so sorry that you felt this way about having a child with Down's syndrome. My little boy was diagnosed at birth, all my scans were perfect and nothing was picked up. He is the best thing to ever happen to us, he has no health issues, met all his milestones and just the most perfect little boy. If I could go back in time to when I found out he had it, and cried, not one tear would have fallen. They are real life angels and Down's syndrome is totally misunderstood x

Down syndrome is a spectrum. Some have very mild symptoms, the fact yours wasn't picked up on scans means likely to be more mild. For some babies Down's can be extremely catastrophic. Congential heart conditions that need painful surgical intervention immediately after birth, sight and hearing loss, diabetes, cancer, all on top of the learning disabilities. I'm really glad you got your little boy and he seems to be a very mild case. But there is no test to show whether your baby will have a mild or severe case and parents need to decide if they could cope with worst case scenario without judgement.

Mummyosc · 22/03/2024 22:36

HowcanIhelp123 · 22/03/2024 20:59

Down syndrome is a spectrum. Some have very mild symptoms, the fact yours wasn't picked up on scans means likely to be more mild. For some babies Down's can be extremely catastrophic. Congential heart conditions that need painful surgical intervention immediately after birth, sight and hearing loss, diabetes, cancer, all on top of the learning disabilities. I'm really glad you got your little boy and he seems to be a very mild case. But there is no test to show whether your baby will have a mild or severe case and parents need to decide if they could cope with worst case scenario without judgement.

These are also true in children with DS yes, however every baby is deserving of life. I'm not judging anyone's decisions, but babies without syndromes can also present with health issues..
Me and my partner were also extremely scared at the unknowns of Down syndrome. At the moment is seems that my little boy is thriving, but this could change in the future, it's a waiting game as he gets older. It doesn't take away that he is still our little boy and love him regardless.
There are interventions that sometimes need to happen as you mention, but this is picked up right after diagnosis and in most cases extremely successful and people with Down syndrome live long and happy lives. In a recent study nearly 100% of people with DS said that they were happy with their life. This doesn't of course take away parent's right to choose what's best for them, I completely agree @HowcanIhelp123

Mummyosc · 23/03/2024 09:41

We didn't have the tests to find out when I was pregnant, as it didn't matter to us either way as still our baby. I know not all parents will feel this way and not here to judge because we were heartbroken when we first found out he had DS, as you do expect your child not to have it. I just wanted to share some information from a parent with a child with DS that it's not as scary and debilitating as the doctors and Google makes out.

Immasucker · 25/03/2024 21:30

HowcanIhelp123 · 22/03/2024 20:59

Down syndrome is a spectrum. Some have very mild symptoms, the fact yours wasn't picked up on scans means likely to be more mild. For some babies Down's can be extremely catastrophic. Congential heart conditions that need painful surgical intervention immediately after birth, sight and hearing loss, diabetes, cancer, all on top of the learning disabilities. I'm really glad you got your little boy and he seems to be a very mild case. But there is no test to show whether your baby will have a mild or severe case and parents need to decide if they could cope with worst case scenario without judgement.

My DS baby had a serious heart defect. We were heavily invited to terminate. The defect was repaired and will require monitoring throughout his life, but he is an utter utter joy. His life is worth exactly the same as yours if you discovered you had a horrible heart problem.

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