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Original poster

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:
Original poster
Mummyo1 · 14/09/2023 07:50

@Vallmo47 thank you so much. I think a gambler would be happy with my odds...but I just can't help but feel, what if I'm that statistic? I'm praying baby is okay, I just think the wait is going to be torture as naturally I try to reassure myself but also know that not everyone gets the happy ending

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Vallmo47 · 14/09/2023 11:27

@Mummyo1 Unfortunately that’s the case with every pregnancy and birth though. I do completely sympathise with you and would also worry, but bottomline is we don’t know that everything is going to go to plan with anything in life so all you can do is try your best to look after yourself and your loved ones and one day at a time. ♥️

Tryingtohelp12 · 14/09/2023 11:32

Sorry but your language (and the language of many posters) is offensive to people with Down’s syndrome. Down’s syndrome (like many other learning disabilities and autism) is a spectrum. Many people with Down’s syndrome live ordinary full lives with partners, eduction and employment.

this is your child and you will love and support them and their needs.

Rusticanella · 14/09/2023 11:35

@Tryingtohelp12

What language had anyone used that's been offensive?

ShadyPaws · 14/09/2023 11:46

Tryingtohelp12 · 14/09/2023 11:32

Sorry but your language (and the language of many posters) is offensive to people with Down’s syndrome. Down’s syndrome (like many other learning disabilities and autism) is a spectrum. Many people with Down’s syndrome live ordinary full lives with partners, eduction and employment.

this is your child and you will love and support them and their needs.

And many can't. It's entirely up to the woman what she decides and she should be supported either way

Mushroo · 14/09/2023 11:53

@Tryingtohelp12 a Down syndrome diagnosis and the decision of what to do next is very personal.

I personally would have terminated, and if that is offensive than so be it.

OP - keeping fingers crossed for you, whatever the outcome, the decision is completely up to you on next steps. My NIPT came back within 5 days so I hope it’s quick for you.

SomethingNastyInTheBallPool · 14/09/2023 12:07

OP, I really feel for you. It must be horribly stressful. But — these initial tests are so far from accurate.

My colleague had a 1 in 2 chance of her daughter having DS. She didn’t.
When I was pregnant with my daughter, the chance was 1 in 240 - considered low for my age, and no further testing was recommended. Scans all looked fine. My daughter was born with DS.

I really hope the NIPT sets your mind at rest. But if it does come back positive, I promise you, it’s not the end of the world. xxx

HowcanIhelp123 · 14/09/2023 12:16

Tryingtohelp12 · 14/09/2023 11:32

Sorry but your language (and the language of many posters) is offensive to people with Down’s syndrome. Down’s syndrome (like many other learning disabilities and autism) is a spectrum. Many people with Down’s syndrome live ordinary full lives with partners, eduction and employment.

this is your child and you will love and support them and their needs.

It absolutely is a spectrum. Some people are affected much more mildly. Others are much more severely affected and DS can come with many co-morbidities including diabetes, congential heart defects, certain childhood cancers (20 times more likely to get ALL for example), hearing and sight loss etc on top of the typical neurological factors associated. At present there is almost no way to know how severely a baby will be affected. There is no test to say whether its a milder or more severe case (other than heart defect detection on ultrasound of course).

So parents need to go into it understanding their child could be of the more severely affected. They need to consider whether they can cope with the challenges it raises. It's a very personal decision that they have to live with and there are a large number of people that would of course love that child but do not have the capability or support to handle their needs.

Original poster
Mummyo1 · 14/09/2023 12:51

@Tryingtohelp12 I'm going to be honest with you. I don't care if you find me offensive. I'm heartbroken and have a right to be. I'm on a forum of other supportive parents and you don't have to be one of them, but I won't be sorry for my feelings. Don't invalid people's emotions and feelings because of your own thoughts.

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Vallmo47 · 14/09/2023 13:02

@Tryingtohelp12 I completely understand your strong emotions because if anyone ever dared to say anything negative about my disabled brother I would lash out, fiercely defend him and his right to be like everyone else. But deep down inside I cried many bitter tears about how difficult life was growing up and how hard it was to see how the world saw him. OP is upset at the possibility of a more difficult life for herself and her child, and that is perfectly understandable.

OP, the poster is right in that everything will be okay and you will always find a way of supporting and loving your child.

Original poster
Mummyo1 · 14/09/2023 14:01

I've had the NIPT, now just awaiting results. She said by my scan you would never flag anything, babies neck was 2.4 and she said they allow up to 4, papp a was a bit low but hcg was 3× what it should be. Keeping my fingers crossed for a good outcome I love my baby so dearly so this hurts. I have a 93.75% chance that all will be fine and I'm just going to keep remember that

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Original poster
Mummyo1 · 14/09/2023 14:08

@floofbag My nuchal fold was 2.4

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Vallmo47 · 14/09/2023 14:23

Yes definitely focus on that 93% chance, keep us posted.

Original poster
Mummyo1 · 14/09/2023 14:59

@Vallmo47 I will do, do you know if you wait a week (7 working days) or if it includes weekends aswell? I'm really hoping I don't get the call to say that it's come back high

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spiderlight · 14/09/2023 15:09

My best friend was given a 1 in 6 chance and her baby didn't have Down's - he's a strapping great 20-year-old now.

Original poster
Mummyo1 · 14/09/2023 15:13

@spiderlight I'm so glad to hear and thank you for the extra reassurance. The hospital kept saying sorry and made me feel like it was already a done deal. I'm just reminding myself of a 93.75% chance of a low result. I already feel myself like its going to come back high, maybe its just my anxiety and feelings on the situation

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lemonsaretheonlyfruit · 14/09/2023 15:16

I called mine a day early and they gave me the results over the phone. They have lots to process so she just hadn't got around to calling me yet. So I would try and get the number!

Original poster
Mummyo1 · 14/09/2023 15:26

@lemonsaretheonlyfruit she gave me her number and said the emails are open all day and as soon as its in they will call, but after 5 days I'll chase it up just incase. I already feel like it's game over and I'm really struggling

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LBWW · 14/09/2023 15:47

Hi Op,

I'm so sorry you have had that call. I had the same call aged 32. At the time the Harmony test wasn't available on the NHS, so we paid for it. For us, we just wanted to be as prepared as possible and the amnio was something I didn't want to risk. I had no understanding of what the ratio meant or how it was calculated. I still don't as nobody was able to explain it to me. Fingers crossed the results you get from tomorrows tests help you feel better/settle better.

One of my consultants eventually explained that the low Papp-A can be a cause for the reading. My understanding is that the initial blood tests are quite outdated and the NIPT gives you a much much more accurate reading.

There's some really insightful instagram pages: downssyndromeassociation and positiveaboutdown_syndrome They give lots of information and made me feel much more at ease about our potential diagnosis. Definitely worth taking a look at and worth asking questions on.

monkeynutters · 14/09/2023 15:49

Completely agree with you. “Well my baby was perfect” implying a child with downs is lesser than?

readingismycardio · 14/09/2023 15:51

Hi, OP!

I have heard a few similar stories and then they did the NIPT and came back perfectly clear, low risk! I know you must be out of your mind with worry, but please, do not lose hope. I know it's easy to say, but it's important for your little baby to be as calm and composed as possible too.

Wishing you a quick and low risk result!!! Please update here!🙏🏻 Sending unmumsnetty hugsFlowers

TurquoiseDress · 14/09/2023 15:57

We paid privately for the Harmony test when I was pregnant with DC2

None of my NHS screening tests suggested any high risk but we wanted to just get the Harmony done for peace of mind.

Mainly due a missed miscarriage at 12 weeks in between DC1 and DC2...I was 39 when pregnant with DC2

Good luck with everything, at least now that you've had the NIPT you will have more information/answers which will help going forwards

Think the private Harmony took around 5-7 days was definitely back within 1 week

Original poster
Mummyo1 · 14/09/2023 15:59

@monkeynutters please don't comment on my post. People can feel down about it if they want. You may be happy with a downs syndrome baby but some people it's heartbreaking and I'm shaming no one for that. Take your unnecessary comments else where.

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Original poster
Mummyo1 · 14/09/2023 16:00

@TurquoiseDress yes my nipt was done today and she said it's in priority and should know this time next week. By Monday/ Tuesday I'll be watching my phone like a hawk and keeping it on loud. It's a massive deal for us as we aren't sure we will continue the pregnancy if baby has downs, and that absolutely breaks me

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Blixem · 14/09/2023 16:11

I was given a 1 in 17 chance of DD having downs syndrome. I had the NIPT and it came back 1 in over 50,000.
The blood tests aren't very accurate and I know the waiting to find out is awful but try not to get too stressed.
I kind of detached myself from the pregnancy as a way of coping as thinking about it was too much for me.
I know lots of people with downs syndrome live happy full lives but we had agreed before the pregnancy if anything was wrong with the baby that we wouldn't continue the pregnancy due to the long term effect on the older children.
It felt so unfair, I was 15 weeks by the time they told me about my results and 17 weeks by the time I got the NIPT results. I hated knowing I was nearly half way though my pregnancy and it might not continue.
I didn't feel connected to the baby again until we had the 20 week scan.
Sending you lots of positive thoughts and I hope everything is OK for you.