High Risk for Downs Syndrome

deana923

I am 43 yrs old and pregnant with my first child. I had the Verifi blood test done at 10wks and all came back ok and gender predicted a girl but then I did the NT scan which gave me the odds of 1:18 chance of Downs..the fluid behind baby's neck was 2.2mm which I read is within normal range however they still see me as high risk based off blood test.I had the AFP test done last week and got those results of 1:21.

I am very nervous and anxious.I do not want to have Amnio but I am going to speak to genetic counselor per my Doctor's request.I don't know what they can possibly tell me being I am not going to opt for the Amnio. This is so nerve-wracking. Anyone else have these kind of results:(

jennielee123

After having my blood work done, I was given a 1:45 chance of my LO having Down Syndrome. I did opt to have the Amnio, and the results came back negative. Keep your head up, the odds of your baby not having Down Syndrome are close to 95.5%.

TashaPlusNika

I'm so sorry you are worried, but I completely understand. 

My experience, when pregnant with my first, the NT fold was mismeasured, and because of that, all of my 'statistic' numbers for the first screening came back abnormally high - 1 in 24. 

I'm not saying there was the same human error with you, however, this time around, I decided to also have the Harmomy blood test. Is something similar - a non invasive blood draw, that would give a more reliable result, an option for you? 

Edited to add: just noticed that the Verifi blood test part of your post, shouldn't post prior to having coffee), I agree with the other poster, what were those results?

peggels24

What were the results of the Verifi test?  You said that they came back "ok" but what were the odds for Downs?  

harmonicbabe26

msspeedymarie said:

If the Verifi came back fine, why did you even do the NT scan? The Verifi is much more accurate, and the NT scan wouldn't tell you anything new. I did the Mat21, but that was after getting a 1:18 risk from an NT scan, and my Mat21 came back low risk.

This! Are you for real just desperately looking for something to freak out about??? I had Harmony (same type of thing as Verifi) bc of being over 35. That is the test you should rely on. 1st tri blood work is notoriously unreliable. A good Verifi combined with a good NT scan is all you want to think about.

nolanova85

I agree - I'm surprised they're weighing the NT scan over the results of the verifi.  My understand has always been that the cell free fetal dna tests are the most accurate.

indianaalum

If Verifi said "low risk" I would trust it WAY WAY more than the nt scan.

NT scan take your AGE in consideration when they come up with a number statistic that is NOT diagnostic.

(I went through something similar..high risk based on NT scan but Panorama cleared me) and then later scans saw no markers either.

Try to relax (I know, it's hard..been there), but the Verifiy are much much more accurate measures

HerHighness

Im sorry i know this is scary. From what ive read cfDNA tests (like verifi) are 99% accurate at diagnosing downs. Im actually surprised they are concerned after seeing that. Its far more accurate than the blood tests they give you with the NT. Usually people with high NT results are offered the cfDNA not the other way around.
I hope everything is okay. My thoughts and prayers are with you.

amtay825

I'm sorry you're going through this :-(.

My first tri blood work came back 1:8 chance of downs. No soft markers on ultrasounds, NT measurement was normal. J had the panorama done and it came back with low risk. I've continued to have ultrasounds every two weeks (due to my health and something with baby unrelated) and still no evidence of downs. Try not to stress and don't put too much confidence in that first test. They're highly unreliable.

anssett

Why are you not willing to do the amnio? Are you worried about miscarriage rates? If so, do more research. One book I read that's fantastic is Expecting Better where she talks a lot about where those risk estimates come from so you can make the most informed decision. You may still choose not to do the amnio, and that's fine. Just don't avoid it without getting more details about the risks.

alexesq33

Mine was same as others have said, high risk at first (mainly due to my age) and then risk went down when actual diagnostic tests were done.

Try not to freak out about things that have been tested and come back low risk from actual diagnostic tests!

indianaalum

anssett said:

Why are you not willing to do the amnio? Are you worried about miscarriage rates? If so, do more research. One book I read that's fantastic is Expecting Better where she talks a lot about where those risk estimates come from so you can make the most informed decision. You may still choose not to do the amnio, and that's fine. Just don't avoid it without getting more details about the risks.

Nowadays, the NIPT tests should be done before things like CVS and/or Amnio. There is ZERO risk to the babies on those tests as they simply test the babies DNA in the mother (it is just like any other blood draw). They are 97-99 percent accurate depending on the test. From my understanding, if you get  "low risk" on those, you are basically in the clear. If you get HIGH risk, then maybe at THAT point, you should consider doing an amnio and/or CVS to get an absolute answer because "high risk" still is not an absolute certainty of an abnormality.

There ARE risks with an amnio, and even more risks with CVS. I personally (just my opinion) think any woman would be a fool to opt with one of those tests BEFORE doing a NIPT test which post ZERO risk to the baby

tjg5181

My wife and I are going through the same.  We had our NT testing done this past friday, and got the results yesterday (wednesday) that she was high risk for DS with 1:20 chance.  We went in today to have the Harmony test drawn and sent to California and are told we have to wait 2 weeks to hear back.  My wife and I are both 33, this is our first child, and needless to say were were a little shocked by the news.  The ultrasound came back good with the NT of 2.6 mm.  The doctor came in after we had the ultrasound and showed us the normal growth and was not concerned by the depth of the NT.  The blood test came back with the hcg of 2.61 MoM which put us in the 95th percentile, meanwhile the PAPP-A was good at 0.83 MoM.  They considered the NT of 2.6 mm to rate in the 95th percentile as well which is why we were given the 1:20 odds.  Had I read the reviews of the first trimester screening before opting to do it, I would never have allowed my wife to go through with it.  I think this causes more stress to the pregnant mother by giving them such detrimental odds and NOT actually testing for any actual chromosomal abnormalities.  We opted for the hamony test because of it's low false positive rating, and hope that we have good news in 2 weeks time.  If the test comes back in our favor we will skip the amnio and wait for our 18 week level 2 ultrasound.  

I know you have your doubts now, however, I believe the other posters are correct.  Favor the Verifi test and try to discard what was given to you at your NT scan.  I know it can be discouraging, however, after reading everywhere online that many people were given such high risk odds of having baby with DS, it's hard to believe that they still use that algorithm at all and rather use the ultrasound combined with an actual dna blood test like Harmony, Verifi, or Materniti21....

Best of luck going forward!

dreacwaters

I'm 39. We had insurance issues. Our first appointment was at 14 weeks. We met with the Genetics Counsler and opted for the Amnio. The amnio was not the hard part. It was the 2 week wait that was excruciating. But now at 23 weeks. Amnio results were great. We now have a peace of mind. The chance of a miscarriage is super slim. It's all up to the individual couple. Our chance was 1:65 for DS. Please do more research. The amnio is safe and really gives you and your doctor insite on what is really going on. The Amnio is 99.99999% accurate. The blood tests are not. Good luck!! Thoughts and prayers to you.

Bigboneded

@dreacwaters, the amniocentesis is safe (relatively) and only 1 in 100,000 result in miscarraige..... umm I would not opt to take that chance after losing a baby already. My mother had many amniocentesis done throughout her pg with my brother and he is fine, but cfDNA was not available in 1989.... she may have opted differently today. Yes, do the research.... but please dont minimize the risk of mc after invasive procedures! I am an educated medical professional and I would never opt for an amniocentesis for myself given any other choice.

ruemorgan

Sorry you're going through this. Try your best to remember its a screening and not diagnostic, and the odds are currently more in your favor!

LucilleAustero

Bigboneded said:

@dreacwaters, the amniocentesis is safe (relatively) and only 1 in 100,000 result in miscarraige..... umm I would not opt to take that chance after losing a baby already. My mother had many amniocentesis done throughout her pg with my brother and he is fine, but cfDNA was not available in 1989.... she may have opted differently today. Yes, do the research.... but please dont minimize the risk of mc after invasive procedures! I am an educated medical professional and I would never opt for an amniocentesis for myself given any other choice.

Um you are really really wrong, I had an amnio done 3.5 years ago and the risks for a miscarriage are between 1:250-1:500 depending on history.

I don't know what your specialty is, but it is irresponsible to spout grossly erroneous "facts" as a medical professional.

OP, here are the risks listed by the mayo clinic for amnios:
https://www.mayoclinic.org/tests-procedures/amniocentesis/basics/risks/PRC-20014529

FWIW, we were told that there was a high probablility that our baby had Edward's Syndrome and would not survive to birth. We opted to get the amnio. Since that and the CVS are the only two diagnostic tests available, it gave us peace of mind when the results came back normal. We opted out of the micro-array, which tests for genetics issues that are not covered in the amnio, but has a high rate of "non-determinable results".