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High risk of Down syndrome

(44 Posts)
Pjs89 Sat 02-Feb-19 11:12:40

I’m not sure if I’m posting in the right subject. It’s all a little new to me writing on forums but I didn’t know how much I would come to rely on them!
I’m 14+5 weeks pregnant. I had my scan last week and screening for Ds and Edwards. I was told during the scan that the measurement for the fluid at the back of the neck was normal at 2. I then had the blood tests to accompany these.

One week later on Wednesday (30/1) I was called with the news my baby has 1:18 chance of having DS. I’m only 29, my papa was slightly below normal at 3.1. We went into hospital the next day and paid for the Iona test to be done right away!

We are left crushed and terrified. I don’t know what to do with myself whilst we wait the results! We won’t be waiting long (3-5 days) as my father in law dropped it directly off yesterday. Has anyone had a similar experience or the same odds? It’s killing me and my husband. I wouldn’t wish this wait on my worst enemy.

Thank you in advance

Petitprince Sat 02-Feb-19 11:31:32

Yes, we were one in seven. The wait was horrible but it gave us time to realise we'd keep our baby whatever the result. As it was, the tests were negative. But as you say, the waiting was very scary. Sending lots of love.

doubleshotespresso Sat 02-Feb-19 11:39:57

Hello and so sorry to read this. We were informed of a high (higher than yours by a lot) that our baby may have DS. So high in fact they left us in a dark room "to consider termination".

We resisted amniotic testing and decided to proceed regardless .

DD now 4 years old, born healthy and no DS currently making ice-cream from play doh.

It's important to remember that these tests present a risk not a fact. I know how awful the waiting must be but be kind to yourself, focus on your baby, talk to your DP- wishing you all the best.

Pjs89 Sat 02-Feb-19 12:01:29

Thank you for both of your messages,
Means so much people take the time to message.
Both of your stories are so comforting, we too didn't want the invasive testing so we went ahead with the bloods.
Hoping and praying we are as lucky as you both.

Petitprince Sat 02-Feb-19 12:13:10

Yes, we had the pressure for a termination too. I'm still angry when I think how negative the consultant was about the whole thing. They made a hard time much worse.

CircleofWillis Sat 02-Feb-19 12:13:28

Think of in percentage terms, OP. You have a less than 6% chance of having a child with DS.

CircleofWillis Sat 02-Feb-19 12:14:18


Pjs89 Sat 02-Feb-19 13:02:59

It's so scary, they have to be so series and take you in a small room! I felt like I was about to be told I have cancer and I'm go by to die! That's what my husband says, we wouldn't put a bet on 1:18! I'm feeling much more positive today that everything will be alright! Had a low day yesterday but everyone's reassurance and stories have helped💓

ChariotsofFish Sat 02-Feb-19 13:10:29

Is it your PAPP-A that’s making you higher risk? 3.1 is actually high for PAPP-a, so that might not be the right figure. I also had low PAPP-A and didn’t have any chromosomal issues, though I did have a very small baby.

Good luck, I hope you get the results quickly.

Pjs89 Sat 02-Feb-19 13:19:57

Maybe I'm wrong and it's 0.31 and it's meant to be 0.4 I'm not sure but I think that's what given such a night risk, which may mean I will have a smaller baby, but I was a smaller baby and we've had a few smaller babies in the family. It's all very a lot to be understand and you're not really taking it in at the time are you! sadxx

Girlofgold Sat 02-Feb-19 13:24:06

The shock and wait is horrendous. I had an amnio and the procedure was fine too. Someone said to me he would play my odds all day long. My baby didn't have Down's syndrome. Interestingly I didn't do the bloods second time round. First time round your kind of blind marched into the tests with no prep for them. Good luck op. It will be fine and even if it's not, you will still be fine x

ChariotsofFish Sat 02-Feb-19 15:10:16

No, it’s hard to listen when you’re in shock. I was given all the results on paper to take away and it’s easier to take it in later. 0.31 is probably right and you’ll need monitoring throughout pregnancy because of the increased risks.

curliegirlie Sat 02-Feb-19 17:03:02

Hi, I’m so sorry you’ve had such a shock, and it’s great you’ve been able to have the Iona test and the results are expected back so soon.

If they too come back high chance for Down’s syndrome, don’t panic, but do get informed. There are some excellent resources for expectant and new parents on the Down’s syndrome Association website, so it’s definitely worth having a browse through them. The Postitive About Down’s Syndrome website is really great for stories and experiences of real parents, as is the Don’t Be Sorry Blog, about a 6 year old called Oscar and his family.

I was given a postnatal diagnosis of my daughter’s Down Syndrome (our chance had been 1:1900!). The consultant reeled out a list of all the potential medical problems just hours after she was born. Do you know what? She’s completely healthy- no heart, bowel or feeding problems (although breastfeeding was tricky at first due to her low muscle tone). She’s now 3 and a half, a cheeky little girl who can walk and is saying more and more each day! Things are a bit different to what we expected, but I can’t imagine life without her!

AmethystMoon Sat 02-Feb-19 17:09:50

I was 1:21 risk, that was 7 years ago and she’s now demolishing a bag of sweets after a birthday party.... and no Downs, or either of the other two she was high risk for Edwards and another beginning with P (aging memory fail blush)
I opted for amino and it came back negative thankfully.
I can remember though being devastated when others were getting 1:2500 and even 1:700..... compared to them it felt like a dead cert. but of course it’s not at all.
Keeping my fingers crossed for you.

Pjs89 Sat 02-Feb-19 19:01:39

Both of your messages have filled me with different kind of positively!

On both side of the coin now, I know everything will be fine and if the results aren't fine it will be in the end and my path is laid out for me now I can't change it!

I cant believe be all the false negative results and the stories of low odds who now have a child with ds. Your little girl is beautiful and makes everything seem less scary! When I first found out I imagined a life sentence but now seeing it in a different light completely! All children and beautiful and a blessing!

Thank you for all your stories and messages of support in this strange time!

I am trying to remain positive! Peaks and troughs I think until we find out.

It's hard not having a definitive answer, in ways that would have been easier. I have a very support husband, family and best friend and now mums net!

Feeling ok the up! Xxxsmile
I will keep you all updated!

Fiona0x Sat 02-Feb-19 19:10:15

@curliegurlie your dd is beautiful, she looks like such a ray of sunshine 😊

Pjs89 Sat 02-Feb-19 19:22:31

She really is! Beautiful blush

DoAsYouWouldBeMumBy Sat 02-Feb-19 20:01:14

The thing to remember is that we test for Downs because we CAN. It's not the worst result for a baby, but it is easyish to test for. So we do.

I had borderline DS test results, and twisted myself into knots over them. I decided against aminio and then just worried. As soon as he was born, I had no idea what I'd been so worried about. He didn't have Downs, but I realised instantly that I didn't give a shit, frankly, I loved him so so so much.

DoAsYouWouldBeMumBy Sat 02-Feb-19 20:01:54

@curliegirlie your daughter is stunning 😍

Pjs89 Sun 03-Feb-19 07:15:43

Its the worrying it's twists you up and takes hold of you!

This is our first baby so I've been worried about everything to begin with.

Had a positive weekend then boom! Hits me again. We will have 99.9% accurate answer then I can focus on the future and come to terms with it! Whatever it may be.

Just feels very uncertain now and it's out of my control at the moment.

My nans words yesterday to me were 'I've worn god out these last few days' 😂

I won't be having the tests again and I don't think enough is emphasised on the results. You're led to believe it will all be ok! Especially as the midwife said how healthy my baby was looking and normal so he blood results threw me into a state of shock!


Fiona0x Sun 03-Feb-19 07:34:50

Of course OP that feeling is understandable. I'm sure everything will work out, hand hold flowers

Pjs89 Wed 06-Feb-19 17:53:55

Hi all,
Thanks for all of your positive messages at the weekend!
I'm am a woman on the edge today, really hoped to have them back today but I've called today and they said that they are expected tomorrow!
I will keep you all informed, trying to keep it together tonight!

LaurenSarah22 Wed 06-Feb-19 18:01:09

My LO was 1 in 24. Her fluid behind her neck was in the normal range but at the higer end of normal range. We had a NIPT test and that came back as highly unlikely to have DS.
Well she was born in novemeber and doesn't have DS

Pjs89 Wed 06-Feb-19 19:03:47

Think you!
I'm so glad you have a healthy baby!
Congratulations 💓
What was her measurement if you don't mind me asking?
Is the Nipt test the blood test as well?
Another positive story!
Thank you x

MrsTiffin Wed 06-Feb-19 21:40:04

@Pjs89 we also had a similar result as you, 1 in 19 for DS. Had the NIPT blood test which came back negative. My DS is now 7 days old and doesn't have DS.

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