# Down Syndrome Risk 1:11



## chattyB

The hospital have just called and given me the results of my combined NT test. I knew last Thursday at the NT scan that the measurement was 3.5mm so not good.

The bloods have came in at:

PAPP-A 0.6 MoM
B-HCG 0.93 MoM
NT Scan 3.5mm
Age at delivery 36yrs 4mths.

All of these combined have given me a 1:11 chance of having a baby with Down Syndrome. I was led to believe during the phone call that these blood results are "normal" and the risk ratio is largely governed by the scan result and of course, my age. I'm going in for a CVS on Friday to find out for sure and should hopefully have initial results for trisomy 21,18 and 13 by Tuesday next week.

Does anyone have any experiences/knowledge of what these blood results really mean? Are they really "normal"? or just scrapping the edge of normal? I know different trisomies have different blood value indicators but I have no idea where to begin to look for this info. 

Thank you in advance!


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## cj28

Hi again 

They didn't give me a copy of mine but I remember them roughly
PaPP A was 0.76 MoM
B-HGC was 2.39 MoM
NT measurement was 3mm
And I'll be 32 at delivery.

To be honest I have done plenty of googling and the NT measurement seems to give a higher risk than bloods. My HCG is much higher than yours but my measurement and age a bit less and I've been told 1 in 16.

I was told for bloods that 1 is the average and so 'normal' so your HCG seems ok to me.


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## chattyB

Thanks huni, having a bad day I think ... I was coping ok until the hospital phoned and I've been in floods in and off ever since. This wait is just awful :(

How are you? Thinking of you and will be keeping everything crossed that your baby is absolutely fine. :hugs:


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## rock_chick

I would try not to worry as I do feel the 'truth' is more linked to the nuchal measurement.

My son's was nearly 10mm, and he did have Downs. there were no soft markers, he had a nasal bone and measured perfectly everywhere else.

Trust me though, even if your child does have downs syndrome, you will love them regardless because they are still your child. I had no issues bonding with my son, I am having trouble letting him go tho, he was that precious. xx


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## duffers

Big hug to you. 

Don't know if this is of nay help but the fetal Medicine Foundation run a course for 11-13 week screening. The course booklet is online and has tonnes of info. Stuff on blood results is on page 20.
here is the link
https://www.fetalmedicine.com/fmf/FMF-English.pdf


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## cj28

Hi ChattyB

I'm doing ok - been at work today so not had so much time to dwell on things. Plus I was able to talk it through with my friend at work which helps.

The wait is awful and even once we've had the cvs we then have to wait for the results - I just want to fast forward to next week. 

Hope you are feeling a bit better and will be thinking of you on Friday too :hugs:


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## elfin2011

Hi chattyb

As has already been said, the blood results are indexed at 1, so your bHCG is pretty average. The papp-a is a bit low, but I've seen much lower. The 3.5mm NT is right on the upper boundary of normal. Your age won't be helping (sorry!). What typifies down syndrome is high bHCG (above 1), low papp-a (below 1) and soft markers like the nuchal fold.

My results were:
Nuchal: 2.6mm
bHCG 1.65
Papp-a 0.39
Age at delivery: 35

So, my blood results were more indicative of a problem, and my nuchal less so - but frankly all my results were a bit off! My risk factor was 1:15.

I had a CVS done and all was clear, and my little boy is now 14 months old. Mine was also done on a Friday, with the results coming in on the Tuesday afternoon. I hope it goes well for you tomorrow. x


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## chattyB

Thank you ladies, it's really helped. The fetal medicine booklet that Duffers linked is very interesting and it's there in black and white exactly what they're looking for at the scans/blood tests and what they mean. I know they ultimately won't change the result but it's giving my scientific brain something to digest at this time.

Rock Chick, I posted on your thread last week (days before I'd been for my NT scan) and you've given me SO much hope that if my baby has trisomy 21, it's not the end of the world and is actually a very special gift. I can understand how some families may decide not to continue the pregnancy out of fear, but for me, this wouldn't be an option at all - I'd love my baby whether or not s/he had an extra 21 chromosome. Haydon is just beautiful and I'm so sorry he had to leave :(.

My main concern at this point is that they may find another of the trisomies "incompatible with life" - THAT is what is killing me inside, the fact that I may have to make *that* decision for my child :(. 

Thanks again for your input ladies :)


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## Kpj1990

Hi, i had a cvs test done last wednesday as lots of swelling and fluid behind babies neck. Got my first redults on friday normal for 13,18 and 21. So now in limbo as dont have a clue what could be wrong. Im 22 and husband is 25, my nt measured 3.8. X


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## chattyB

Kpj - that's great news about the CVS results, I'm really glad it went well. I was unable to have the CVS due to the location of the placenta so it's amnio for me in a few weeks. The Dr mentioned that a raised NT measurement can also be a sign of possible heart problems and that I'll be offered a detailed fetal heart scan between 16-18 weeks. It might be worth asking your MW/DR about this.

Good luck hun x


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## Kpj1990

But the full results could come back abnormal so i am really in a mess on this hardest waiting game of my life!! i am having another scan n heart echo in 2 weeks x


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## everthingX

Just found your link. Will keep everything crossd all is good hun. your blood was more normal than mine near 1marker but my pap was 0.38 so low too. my hcg was double 2.0 but scan 1.2. Its all so confusing.

Keep us posted xxxx


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## chattyB

Just an update and to thank you all for all your good wishes, you've been fantastic!

I went for my amnio on Monday - it went really well and was nowhere near as uncomfortable as I'd expected, the blood test after was more uncomfortable. The Dr was great and spent a good 30 minutes scanning me before hand, she found no soft markers of trisomy problems and answered all of my (many) questions with patience and understanding without making me feel like a pain in the ass. She had a peak at the gender (we asked) and she confirmed my suspicisions that fidget is a BOY! I didn't look at the needle but stayed watching the screen and nearly had a heart attack as fidget moved his hand from beside his head to right by the catheter (the needle had been removed at this point to leave behind a small plastic tube). It was all over very quickly, I had a slight contraction as she removed the catheter but all in all felt fine. I stayed lying down for 10 minutes then got up .... and nearly fell over lol, I was quite light headed from nerves and lying on my back for a while. I've been on bed rest since returning home, precautionary due to previous preterm labours but apart from the occasional cramp for the first 24 hours feel great.

The hospital have just phoned with my results .... Fidget is fine with no trisomy abnormalities detected in the initial results. I'm SO relieved!


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## Blondie007

That's great news, you can relax now and enjoy the rest of your pregnancy. Congrats on a boy! x


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## duffers

Brilliant news!

:happydance:


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## Rickles

Great news xx


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## Meloc9710

Wonderful news! So happy for you! :)


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## cj28

Just seen this - great news! Hope you can relax now and go shopping for some blue things!


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## everthingX

Oh hun that is AMAZING to hear!! SO SO pleased for you, I know how much you must have been worried!!! I feel a sigh of relief for you to be honest! I think I might have to go for Amnio after all, this not knowing is eating away at me! :(.

So so pleased for your results hun...go out and celebrate!! (obviously within limits hee hee) you must be on cloud 9 :O))) xxx


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## AmesLouise

That's fantastic news!! I just had my amnio yesterday- it wasn't as bad as I thought it was. Rellly, I was more nervous for miscarrying. Doc said your out of the danger zone after 48 hours. I was definately crampy afterwards and this morning still get an occasional cramping or muscle pull feeling. My NT test came back 1/84 for trisomy 21. The first thing the genetic lady asked me was if baby did come back positive for downs was I goign to terminate. I said NO right away. I just want to know so that I can prepare. I will likely get my results next week.


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## chattyB

I'm glad your amnio went well Hun! We're pretty lucky in the UK as the FISH results (in 48 hrs) are pretty much standard. My fear is miscarriage too and dr put me on strict bed rest until Thursday night/Friday ..... Religiously enforced by hubby . I'm still getting occasional cramps but nothing too bad. The puncture site is an impressive yellow and green bruised colour now! 

I have everything crossed that your results show that everything is fine :hug:


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