# 1/6 High Risk Down's Syndrome and panicked



## mhs416

Hello everyone--

My husband and I recently went for our first trimester scan (NT measurements and blood work). We were saddened to receive a call a few days later from our OB informing us that our blood work and measurements were abnormal and we have a 1/6 or 16% chance that our baby could have DS. I'm honestly terrified and sad. We visited a genetic counselor today and got our detailed test results and had a MaterniT21 blood test which is 99% accurate in detecting DS. There is no family history (which I realize now is not very much of a factor and I am 25 yrs old. I'm very very nervous. Ive also had hyperemesis (incredibly intense "morning" sickness which has hospitalized myself and baby twice) throughout my pregnancy so far (13 weeks tomorrow). Its so discouraging to have gone through so much misery to discover this possible condition for my baby. I just don't understand.. opinions* especially encouraging ones * :) welcome.

Our results:
NT 3.0 mm (average around 1.6-2)
PAPP-A 1.13 (normal :)
Hcg level 3.4 (avaerage around 1)


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## madmae

I know how scary it is...our odds of downs were 1:5.....our little boy is fine and fingers crossed yours will be too.


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## mhs416

Thank you madmae its a relief to know that your son's results came back clear!!


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## ELLEMUM

Hiya,

I had a 1 in 8 chance of DS with a NT fold of 4mm, my bloods were also rubbish and i had really bad sickness as well. I have heard of lots of positive outcomes after having bad bloods and NT fold. Our son is now 11 months old and is absolutely fine.

I hope everything works out for you


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## wantagirlnow

ELLEMUM said:


> Hiya,
> 
> I had a 1 in 8 chance of DS with a NT fold of 4mm, my bloods were also rubbish and i had really bad sickness as well. I have heard of lots of positive outcomes after having bad bloods and NT fold. Our son is now 11 months old and is absolutely fine.
> 
> I hope everything works out for you

Do you remember if they checked the nuchal pad at your 20 wk scan?
I declined screening at dating scan but then read in my notes for the scan I had at 21 weeks and nuchal pad was 6.1mm which is borderline, I'm really worried about it xx


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## ELLEMUM

Hello

My notes just said it was reducing at 20 weeks as the professor
Said it is not accurate at 20 weeks so they don't measure it. However
i remember reading that around 6 is ok at 20 weeks. If you are worried 
you could ask for a level 2 ultrasound to check over baby.

X


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## wantagirlnow

ELLEMUM said:


> Hello
> 
> My notes just said it was reducing at 20 weeks as the professor
> Said it is not accurate at 20 weeks so they don't measure it. However
> i remember reading that around 6 is ok at 20 weeks. If you are worried
> you could ask for a level 2 ultrasound to check over baby.
> 
> X

Hey hun, I'm 37 weeks now, n it only came to my attention afterwards, even though I had another scan at 24wks(this was to check for blood flow to baby and notching because of high blood pressure last pregnancy)
I could have asked then but I hadn't looked on google yet that its high...I think just gotta wait and see now but thanks for the reply xxxxx


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## ELLEMUM

Wantsgirlnow I just noticed you live in London. If your worried ask to see
the fetal medical unit at st George's as they are amazing and will explain 
everything to you and I am sure put your mind at rest.


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## wantagirlnow

ELLEMUM said:


> Hello
> 
> My notes just said it was reducing at 20 weeks as the professor
> Said it is not accurate at 20 weeks so they don't measure it. However
> i remember reading that around 6 is ok at 20 weeks. If you are worried
> you could ask for a level 2 ultrasound to check over baby.
> 
> X




ELLEMUM said:


> Wantsgirlnow I just noticed you live in London. If your worried ask to see
> the fetal medical unit at st George's as they are amazing and will explain
> everything to you and I am sure put your mind at rest.

Thanks, I'll look it up xxx


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## flashy09

ELLEMUM said:


> Hiya,
> 
> I had a 1 in 8 chance of DS with a NT fold of 4mm, my bloods were also rubbish and i had really bad sickness as well. I have heard of lots of positive outcomes after having bad bloods and NT fold. Our son is now 11 months old and is absolutely fine.
> 
> I hope everything works out for you

Just out of curiosity, what causes a high NT fold in a normal pregnancy? Was there any reason for the the 4 mm?


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## susiebaba

We had our first trimester screens with a 1:13 chance. We did the MaterniT21 tests which came back fine! ... Great Releif! I have read multiple stories on this forum and others where perfectly healthy babies have come back with negative results in the first trimester "screening" - I guess there is a good reason why they call it screening - it can only be < 80% accurate. MaterniT21 should out your mind at ease - Try not to worry - I know it is easy to say this - we went through hell until we got the MaterniT21 results ... but really try to remind yourself - you need to stay healthy and worry free for the sake of the baby. Take it a day at a time and everything will work out ...


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## wantagirlnow

susiebaba said:


> We had our first trimester screens with a 1:13 chance. We did the MaterniT21 tests which came back fine! ... Great Releif! I have read multiple stories on this forum and others where perfectly healthy babies have come back with negative results in the first trimester "screening" - I guess there is a good reason why they call it screening - it can only be < 80% accurate. MaterniT21 should out your mind at ease - Try not to worry - I know it is easy to say this - we went through hell until we got the MaterniT21 results ... but really try to remind yourself - you need to stay healthy and worry free for the sake of the baby. Take it a day at a time and everything will work out ...

Pity we don't have the maternitiT21 here in the UK :nope:


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## anna76

there is a further blood test available in the uk called the quadruple test. I think its only around 78% accurate but at least you can get another viewpoint from your 2nd trimester. Also i have found a place in london where they do the quadruple test and combine the results with your original nuchal scan result. I think it puts it up to 89% accuracy if im remembering what i read. Its done by the Wolfson Institute based at barts and the london and costs £90. I dont think these tests are available on the nhs so you have to pay. good luck xx


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## anna76

oh and also you dont have to travel to london. they send the test bottles to you and your local midwife does it and then you send it back to london xx


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## ELLEMUM

flashy09 said:


> ELLEMUM said:
> 
> 
> Hiya,
> 
> I had a 1 in 8 chance of DS with a NT fold of 4mm, my bloods were also rubbish and i had really bad sickness as well. I have heard of lots of positive outcomes after having bad bloods and NT fold. Our son is now 11 months old and is absolutely fine.
> 
> I hope everything works out for you
> 
> Just out of curiosity, what causes a high NT fold in a normal pregnancy? Was there any reason for the the 4 mm?Click to expand...

Hiya

I think a high NT can mean a variety of things or nothing. In our case my son has a really large hydrocele in his testicles that will be operated on at about 18 months, it causes no problems and easy and quick operation. I have read a study that said a larger proportion have hydrocele after getting a high NT fold. My son obviously was slower to get rid of fluid as hydrocele is common in premature babies so maybe he was slower to drain his fluid on the neck. He is perfect and has no problems and is crawling and cruising.


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## flashy09

ELLEMUM said:


> flashy09 said:
> 
> 
> 
> 
> 
> ELLEMUM said:
> 
> 
> Hiya,
> 
> I had a 1 in 8 chance of DS with a NT fold of 4mm, my bloods were also rubbish and i had really bad sickness as well. I have heard of lots of positive outcomes after having bad bloods and NT fold. Our son is now 11 months old and is absolutely fine.
> 
> I hope everything works out for you
> 
> Just out of curiosity, what causes a high NT fold in a normal pregnancy? Was there any reason for the the 4 mm?Click to expand...
> 
> Hiya
> 
> I think a high NT can mean a variety of things or nothing. In our case my son has a really large hydrocele in his testicles that will be operated on at about 18 months, it causes no problems and easy and quick operation. I have read a study that said a larger proportion have hydrocele after getting a high NT fold. My son obviously was slower to get rid of fluid as hydrocele is common in premature babies so maybe he was slower to drain his fluid on the neck. He is perfect and has no problems and is crawling and cruising.Click to expand...

Thanks. I have read a few of these posts by worried mothers and always wondered what the problem was (if any) when they had high NT measurements, but no chromosome problems


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## Gajendra

flashy09 said:


> ELLEMUM said:
> 
> 
> Hiya,
> 
> I had a 1 in 8 chance of DS with a NT fold of 4mm, my bloods were also rubbish and i had really bad sickness as well. I have heard of lots of positive outcomes after having bad bloods and NT fold. Our son is now 11 months old and is absolutely fine.
> 
> I hope everything works out for you
> 
> Just out of curiosity, what causes a high NT fold in a normal pregnancy? Was there any reason for the the 4 mm?Click to expand...

Allows the doctor to give a suggestion?https://www.cx-7.info/g.gif


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## dae114

Hi hun, i am so sorry to hear. I am also 25 and was just told today my baby has a 1 in 14 chance of downs, according to my quad screen results. We are going for a level 2 ultrasound in a couple weeks, but have opted out of amnio. Will be thinking of you and hoping your baby is just fine. xxx


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## Clauren

Sorry to hear of your stories am in a similar boat. my results for the combined test was a 1:25 risk. I am also in my 20's 21yrs old. I had the CVS yesterday was not painful at all and I felt very comfortable about the 1% miscarriage rate as I was seeing the top specialist. my CVS results are due back within 7-10 days. my fingers are crossed for a positive outcome for you. xo


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## Jmommy

I had a really low risk of down syndrome with my son who was born last July. We did not do the NT test. No one thought it was even a possibility really especially with no family history of it and my age of 22, but he was born and surprise he has Down Syndrome. I know how scary it really can be, but honestly he is truly amazing and a wonderful happy 10 month old right now. I know the pain and worry of having a child with Down Syndrome and I totally understand how you feel, but try to know that IF your child does have Down Syndrome it will be ok and that child will teach you more about life and joy than anything else could and give you so much happiness! If anyone would like to ask about having a child with DS feel free to pm me! 

Keep in mind too that your odds are still better that your baby is completely typical! Good luck! I hope the best for you!


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## sunnydays123

im glad i have joined this forum..... i am 14 weeks pregnant and found out at my 12 week scan that bub has a nt of 5mm which when i was told was totally deverstated and cried every tear i had i think.. i have been put in a high risk for downs, trisomy 18 and 13.... i have seen so many positive stories on here which i love... i go back for another scan at 16 weeks to check for other soft markes on bub.. i am preying that my lil one is all ok... has any one else had a high Nt and bub been great.....


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## Jmommy

sunnydays123 said:


> im glad i have joined this forum..... i am 14 weeks pregnant and found out at my 12 week scan that bub has a nt of 5mm which when i was told was totally deverstated and cried every tear i had i think.. i have been put in a high risk for downs, trisomy 18 and 13.... i have seen so many positive stories on here which i love... i go back for another scan at 16 weeks to check for other soft markes on bub.. i am preying that my lil one is all ok... has any one else had a high Nt and bub been great.....


I just wanted to say that I hope the best for you and your LO. I know how it feels to cry like that. We had no idea our son had DS til he came out and the doctor told us he had certain characteristics. Two days later it was confirmed. Now its been over 10 months and some days are harder than others but I dont cry anymore. He is truly wonderful! (And Healthy) 

I really hope that your LO is typical and something not so scary is causing the high NT. but if you wanted to ask anything about DS or my pregnancy with a baby with DS Feel Free!! :hugs:

GL to you!


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## akwingnut

Hi WantaGirlNow, Since you posted that you were 37 weeks at the beginning of April how did your delivery turn out? Thanks in advance

-AkWingnut


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## chattyB

I'm going through the same thing at the moment - NT measurement of 3.5. Baby looks ok, nasal bone present, long bones normal and heart looks ok. I'm going on for a CVS next Friday at 13w2d. Praying that my baby is ok :(


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## Viperbunny

sunnydays123, have you gotten any other results in? I lost my little girl to trisomy 18, and I know how scary it is to go through all the possibilities. They though she was just small, there was only one artery in the umbilical cord, and she had a cyst on her brain at 20 weeks that was gone by 26 weeks, but that is a soft marker. Still, my doctors didn't suspect anything else wrong until she was born at 29 weeks 1 day with birth defects on her hands and feet. We found out later that week she also had 3 heart defects. They didn't see any of these things on ultrasound. She was perfect to us and we had 6 days with her. We didn't find out it was trisomy 18 for sure until the last day of her life. 

I know it is scary, but there is more of a chance that your baby is okay than there is something wrong. I am pregnant wit baby number 2, got pregnant 6 months after we lost our daughter, and so far, all the test have been great. We were given a 1 in 100,000 risk of trisomy 18 at our NT, also, low risk of downs. 

I hope and pray everything is good with you and your baby. If you ever need to talk about results, or need information, or anything, I'm around.


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## mhs416

I just wanted to thank everyone for the encouragement during what proved to be a very challenging time for my family. I was ever so grateful to have support through this blog. For all the future moms out there that get discouraged through testing.. stay positive and don't let the negative take over. I know that is easier said than done, but do it for your baby; do it for yourself!!


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## Physiomom

Hi mhs416,
Can I ask what the outcome was for you? I am currently waiting...my odds are 1:17. We are waiting until the birth to find out. It's hard to be patient.


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## maxalias

Im so sorry you are going through this hard time, I recently did the same. I had a risk of 1;15 downs, 1;330 trisomy13 and 1;1200 trisomy 18, I was that 1 in 1200, We had our wee girl at just before 18 weeks with edwards syndrome, She had died because of her condition and there was no hope for her. I had a nt reading of 10.6mm, It was huge, Fetal hydrops and nothing looked good. I had u/s showing smaller for dates baby the whole way and it was terrifying. You just never know what is going to happen because I was high risk of downs and it didnt happen, I really hope your wee bubby is fine x


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## maxalias

sorry to hear of your bubby with trisomy 18 too, we lost our wee girl on the 1st of september with the same trisomy, it is devastating, I hope you are doing ok x


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