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Original poster

1 in 3 chance of Down’s syndrome

21 replies

Tinytree84 · 12/12/2018 16:37

Hello ladies, this is my first post so please bare with me. I found out yesterday after my 12 week scan and blood test that there’s a 1 in 3 chance our Baby has Down’s syndrome and 1 in 85 chance it has Patau. I will be 35 when baby is due, have no history on either side of the family, the nucal measurement was 5.8mm. I’ve got the CVS tomororw mornjng and I guess I’m wanting to hear from others with this percentage and your experiences.

Many thanks

OP posts:
mortifiedmama · 12/12/2018 17:44

No experience here, but that must have been hard to find out. Best of luck for tomorrow.

Nightmanagerfan · 12/12/2018 17:56

I’m so sorry. This is such a stressful time. I’ve been in your situation- we had nuchal of 5.8 and 1/5 chance of Downs. The CVS came back positive and we decided to terminate the pregnancy. I’d be happy to answer any questions if helpful - though I understand your situation might be different.
In the meantime the charity Arc is very good and they have a helpline you can call to get some more information about testing, results and choices.

My advice to you would be to think carefully about who you talk to about it as I found people always have an opinion. I had always thought I’d keep a downs baby but once I was in the situation I felt differently. I think the choice is very personal.

Hope you are ok Flowers

le42 · 12/12/2018 18:20

Just want to say thinking of you, such a stressful and heartbreaking situation. We were high risk and had CVS, nuchal was 4.7 - came back negative which was such a relief. I found CVS not too bad at all, so hope that maybe helps a little with your worrying. Thinking of you and hoping for good news for you ❤️

gingeristhenewblack43 · 12/12/2018 18:44

My DD turned 7 on Friday. We were 1 in 7 for Downs following the blood test. The hospital we were under at the time did not measure the nuchal fold.

The staff at the hospital put me under tremendous pressure to undergo an amnio, but having worked with children and adults with Downs and other learning disabilities I resisted.

My DD was born by section due to health conditions they thought she had due to the many many scans.

She did not have Downs or any of the health conditions that they thought she had in the scans.

Notverygrownup · 12/12/2018 18:52

DS2 was given a 1:2 chance of Downs. I did/already had done a lot of reading - and we made the decision to continue with the pregnancy, sure that it was right for us. In fact I was quite overwhelmed by the positive posts of online communities I found of people living with a child with Down's Syndrome. However, I totally accept that it is not a choice that would be right for everyone.

Wishing you all the best, whatever you decide.

(Oh, and ds2 was born without Down's)

stellarfox · 12/12/2018 19:59

Another thing you can look into doing is paying for the Harmony Test as it is more accurate than NHS testing. I have heard of some people getting high risk on NHS and then Harmony shows lower risk. May be worth looking up as it is blood tests only - non invasive unlike CVS

JustMe18 · 13/12/2018 07:10

@Tinytree84 Thinking of you ❤️

soontobe6 · 13/12/2018 11:20

I had a Nuchal measurement of 3.5 and a risk of Down’s syndrome of 1 in 30. I vividly remember the worry and distress of being given a high risk result and my heart goes out to you.
Eventually we choose not to have any further definitive diagnostic testing as we were certain we would continue with our pregnancy.
Our boy is approaching two and is an utter joy. He does have Down’s Syndrome but we feel extremely fortunate to have him in our family.
Thinking of you at this difficult time.

MustStopSnacking28 · 13/12/2018 12:43

Hi, I had high risk for downs Edwards and Pataus with ds and had the harmony test. If you can afford it it’s just more accurate than the NHS test but pricey - my mum kindly offered to pay but I know it’s not an option for everyone.

My advice would be to decide what you would do regardless of the test result and then you can use the result to prepare you for that outcome. We personally decided that Down’s syndrome wouldn’t affect our choice as we were prepared to care for a child/adult with downs. Edwards and pataus were more difficult as they are so life limiting. As it turns out ds has none of those but I think making a choice before we knew the outcome helped us a lot.

I hope you have a positive outcome but I also feel that you have a choice no matter what. If termination is right for your family then you can do that or if you feel equipped to look after a disabled child then that’s also fine. Hopefully it won’t come to any of that but you do have all the options available if so.

It’s a very difficult and stressful time so Flowers for you and I really hope you’re ok xxx

Original poster
Tinytree84 · 13/12/2018 17:17

So we saw the specialist and straight away from a scan he said he would almost completely rule out downs and thinks it's Turners which is very rare and only happens in females. He took the sample and we should have the results by Tuesday. He thinks it's most def that, which is a missing X chromosome and means the child could never have children and would need hormone injections all their life. Opposite facing limbs, abnormally short, no puberty development. Also 99% chance of miscarriage at around 16 weeks or still born. There was also something not quite right with the heart and my placenta is smaller than it should be. If it's none of those then he will test the chromosomes further and we will get the results in 2 weeks

OP posts:
Gobletoffire · 13/12/2018 17:24

I’m sorry to hear this OP, what a nerve wracking time for you. 💐

sunglasses123 · 13/12/2018 17:30

I am so so sorry. I agree with a PP. Be careful who you tell. Everyone will have a view. You will I am sure make the right decision for your family.

ShowOfHands · 13/12/2018 17:36

My most favourite MNer's fab dd has Turner Syndrome. If it is that, I will direct her over here.

I wish you all the very best. I fully recommend ARC too.

Princesspeachy0 · 13/12/2018 17:46

Thinking of u Flowers

I'm pregnant, baby is high risk DS. We decided not to have further testing.

Everybody has an opinion!

SylvanianFrenemies · 13/12/2018 18:15

Hi tiny tree,

I was given a 33% chance of chromosomal abnormality, 15% chance of structural defect last Friday, based on my scan alone. They didn't do bloods as nuchal measurement was already high risk at 4.8.

I had the Harmony the next day and am waiting for the results. The waiting is terrible. I am up and down, one minute I think all will be ok, next I am picturing all sorts of distressing scenarios.

Kind of wish I'd had CVS but I was put off my being quoted 2% miscarriage risk, though my OB has now explained that includes miscarriages that would have happened anyway.

Thinking of you, and hoping we both get good news soon.

HayleyHaystack · 13/12/2018 19:57

@tinytree84 My heart goes out to you. My 12 week scan is next week, I’m the same age as you, and finding the entire process worrying. I really hope everything is ok for you Flowers

Bella245 · 14/12/2018 06:31

Hello TinyTree84,
I had my scan yesterday. I am 40 and first pregnancy. I am waiting for blood results. It is really worrying. Fingers crossed for you and others in this situation. It sucks.

Bella245 · 14/12/2018 06:33

Sorry, just reread your post. Sending you a hug. It sounds so hard for you right now. I am so sorry for you

Original poster
Tinytree84 · 17/12/2018 18:58

Hello ladies. So I had my results today and I'm clear for downs, patau, edwards and Turner syndrome. Which is a step forwards.....I've been told it's a girl and they're now testing the remaining chromosomes which will take a week and a half to get the results for ....fingers crossed

OP posts:
ScarletGlow · 17/12/2018 19:10

That's positive, good luck for the next tests!

le42 · 17/12/2018 21:04

@tinytree84 - oh I have everything crossed for you at this final hurdle. What a terrible time you’ve had ❤️❤️❤️❤️

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