Screen Positive for Downs

[Goolia]

Just got back from my First Trimester Screening exam - which involved an ultrasound looking at various markers (heartrate, crown-rump length, and nuchal translucency) and all were within normal range...in fact, the doctor said the fetus looked "pristine."

However, my bloods were bad. I had high hCg and low PAPP-A, which together with my age and also I presume the ultrasound info, put my overall risk for Downs at 1:49 (my background risk is 1:119, based on age alone - I am 38).

I know that 1:49 is still only 2% risk of Downs, but given that the risk of amnio are lower than my Downs risk, I have decided to get amnio done.

Has anyone here had a similar result and gotten a good result back with their amnio? Just looking for some reassurance here (as usual, sorry...)

 

[Goolia]

Anyone? I guess it is an unusual result .

 

[mnjhowell]

I have no experience with DS markers but I have had 4 amnios so if you have any questions about that let me know. Good luck

 

[Helenita]

Just got back from my First Trimester Screening exam - which involved an ultrasound looking at various markers (heartrate, crown-rump length, and nuchal translucency) and all were within normal range...in fact, the doctor said the fetus looked "pristine."

However, my bloods were bad. I had high hCg and low PAPP-A, which together with my age and also I presume the ultrasound info, put my overall risk for Downs at 1:49 (my background risk is 1:119, based on age alone - I am 38).

I know that 1:49 is still only 2% risk of Downs, but given that the risk of amnio are lower than my Downs risk, I have decided to get amnio done.

Has anyone here had a similar result and gotten a good result back with their amnio? Just looking for some reassurance here (as usual, sorry...)

Hi. I had a very similar situation with the blood: high hCG (1.81 MoM), low PAPP-A (0.65 MoM) and my combined risk came back as 1:9, even though my US measurements at 12 weeks were good. (NT=2.3). I wanted to avoid amnio at all costs, but with such high risk result I thought I would have no choice. However, I then learned about and took advantage of the new diagnostic test which is only available in the US as of now, because it was marketed only about a month ago (cutting edge of genetic testing), which looks for fetal DNA in the maternal blood - so it is a non-invasive blood test that costs $235. It has 99.8% accuracy, so basically the same as doing the amnio. It came back negative for Down syndrome in my case. While waiting for the test results, I went back to do another US at 13.6 weeks to get further reassurance because I believed the US was a more reliable indicator compared to the blood work, and the baby looked normal once again, with NT even less than at 12 weeks, 1.8. So I am pretty sure your baby is fine, given the US findings, but it is up to you, of course, whether to do amnio or not, especially if you want to know for sure.

 

[Helenita]

As I was researching the Internet on the subject of the 1st trimester screening, I have come across the forum discussing the same issue and read the answer of a pregnant woman who was also a Statistician. I am posting part of her answer (most relevant) below. She was replying to another lady who was worried about getting the high risk for the Down syndrome (1:47) based on her combined NT/blood testing. I found her explanation interesting and perhaps it will also help any of you make a decision about what to do in a similar situation.

"...I'm answering you as both, as a statistician and as a mother. Statistician's voice: The way the ''nuchal test'' is typically conducted in medical practices in the US these days is an unfortunate marriage between a relatively reliable and a very unprecise indicator. I can not see how these two very different things can, even half-resonably, be combined into one likelyhood:
(A) The measurement of the nucal fold taken during an ultrasound. If the measurement is above a certain threshold (2.5 if I remember well), this is a semi-quantitative (but relatively reliable) indicator for Down syndrome.

(B) A measurement of the concentration of a hormones released in pregnancy, and some other data. It has been observed that the concentrations of this hormon develop slightly differently when the fetus has Down syndrome (or other chromosomal problems, or spina bifida). A deviation from the typical curve can, but does not have to, be caused by Down syndrome or one of the other diseases. Unfortunately, the evaluation of the results is extremly sensitive to the estimated time of conception. The latter is estimated by the date of last period, or by ultrasound. Both methods are not precise enough to ensure the interpretation is even half reasonable.

I would encourage doctors to report their findings separately. Every woman who chooses to do this test should be reported the measurement from (A). She could then choose by herself if she wants to put any confidence in part (B) or not. In particular, if she already has reasons to belief that the date of conception (the doctors will talk about ''due date'' for the birth, actually) was well estimated. For example, if her cycle lengths are not the ''normal'' 28 days, if she's not sure about her date of last period, or if the dates based on the day of last period and the date based on ultrasound differ. I actually talked to the statistician in charge of the Californian program for screening for genetical diseases. He said that something like three days off the correct date of conception can completely falsify the results. Doctors and their assistents usually do not even know this, and go ahead to do a useless computation. The results they report to the women are probabilities of a precision that is misleading. I would like to see the standard errors for their computations. It would not be surprising to see: ''the probability your fetus has Down syndrome is, most likely, some number between 1/10 and 1/300''. What are you making out of this information?..."

 

[Garnet]

Couple of my friends came high on the test for Downs. One was 1:6 and the other was 1:10 on the blood test but they had advanced ultrasound screens and the babies were fine. If you are comfortable with amnio the do it otherwise you can wait until advanced screening...

 

[April2012]

Just got back from my First Trimester Screening exam - which involved an ultrasound looking at various markers (heartrate, crown-rump length, and nuchal translucency) and all were within normal range...in fact, the doctor said the fetus looked "pristine."

However, my bloods were bad. I had high hCg and low PAPP-A, which together with my age and also I presume the ultrasound info, put my overall risk for Downs at 1:49 (my background risk is 1:119, based on age alone - I am 38).

I know that 1:49 is still only 2% risk of Downs, but given that the risk of amnio are lower than my Downs risk, I have decided to get amnio done.

Has anyone here had a similar result and gotten a good result back with their amnio? Just looking for some reassurance here (as usual, sorry...)

My experience was difference in the sense that my downs risk was low after my blood, but I had an amnio anyway...and all ended up fine (the amnio procedure and the results). if you post this in second trimester you might get a jump in responses. i like this board, but i do notice it doesn't get the traffic as the second trimester board.

 

[Borboleta]

I always make sure to respond ladies concerned about there blood test. I am 38 too and my blood came back 1-94 chances of down. Did the amnio and baby is fine.
Know two other ladies that had the blood test done: first one 27 years old blood test came back very low chances of downs and she actually had a down baby. The other lady 41 years old did the blood test came back 1-4 chances of downs. She did the amnio and baby was fine.
So don't trust the blood test. I did the amnio and would do it again if I would to decide to get pregnant. The lady that actually had the down baby during her following pregnancies (3 more), she skipped the blood test and went right for the amnio.
Talk to your hubby and do what you think it is best for all of you. You have big chances that your baby is fine but I understand that until we see it on the paper we just stress ourselves so much!!!

 

[RNTTC2011]

I haven't been faced with these decisions as of yet (too early) but with my age (36) I know that I will have to make them sooner rather than later. This was really good information and I think that I will probably proceed with an amnio when the time comes. I would rather have a definitive answer rather than a lot of speculation. Also, I will look into the blood test that might be more helpful since I am in California. I haven't heard of it yet, but maybe my hospital is doing it and I just don't know. Thanks again ladies for the information!

 

[Helenita]

I haven't been faced with these decisions as of yet (too early) but with my age (36) I know that I will have to make them sooner rather than later. This was really good information and I think that I will probably proceed with an amnio when the time comes. I would rather have a definitive answer rather than a lot of speculation. Also, I will look into the blood test that might be more helpful since I am in California. I haven't heard of it yet, but maybe my hospital is doing it and I just don't know. Thanks again ladies for the information!

If you are referring to the diagnostic blood test that looks for the fetal DNA in maternal blood, it is called MaterniT21 (you can Google info about it). It is only available in the US, and more so, only in like 40 labs across the country, in certain areas. You might find out that it IS available in your area (with San Francisco being a major metropolitan city). So, check it out. I had it done in Phoenix, AZ. It is a good way to avoid the amnio, in my opinion, and is worth $235. By the way, even if you do not have medical insurance, this is all you will pay. The test itself cost $2700 or so.

 

[Caseys]

However, my bloods were bad. I had high hCg and low PAPP-A, which together with my age and also I presume the ultrasound info, put my overall risk for Downs at 1:49 (my background risk is 1:119, based on age alone - I am 38).

I had similar results but my risk was put at 1:5. I had the amnio and he's chromosomally fine, though I am waiting for a detailed ultrasound on Tuesday to see if there are any placenta problems, as low PAPP-A is associated with that. He's kicking me like crazy right now and I'm 30 weeks along.

 

[Goolia]

Thanks for that info and replies! I opted to do the CVS testing last week - slightly higher risk than amnio, but for me, knowing sonner rather than later is key. Does anyone know the name of the new non-invasive test you can now have done..? (For future pregnancy info).

Edited to add: Sorry, just found the reply with the info about the new test! Thanks everyone - GREAT info!

 

[Goolia]

Quick update pn this thread - got the results of my CVS test back and was all clear! Thanks again to everyone who replied to this thread.

 

[tweety pie]

That's fantastic news hun xx

 

[RNTTC2011]

Goolia! This thread has helped me decide to do the amnio. I don't think that we will do anything different, but if there is a problem, then we can mentally and emotionally prepare for it. Congrats to everyone!!

 

[April2012]

Quick update pn this thread - got the results of my CVS test back and was all clear! Thanks again to everyone who replied to this thread.

so happy to hear!!!

 

[CeeDee]

Good to hear!

 

[Ferne]

Great news!!!

 

[ame704]

Just got back from my First Trimester Screening exam - which involved an ultrasound looking at various markers (heartrate, crown-rump length, and nuchal translucency) and all were within normal range...in fact, the doctor said the fetus looked "pristine."

However, my bloods were bad. I had high hCg and low PAPP-A, which together with my age and also I presume the ultrasound info, put my overall risk for Downs at 1:49 (my background risk is 1:119, based on age alone - I am 38).

I know that 1:49 is still only 2% risk of Downs, but given that the risk of amnio are lower than my Downs risk, I have decided to get amnio done.

Has anyone here had a similar result and gotten a good result back with their amnio? Just looking for some reassurance here (as usual, sorry...)

Hi. I had a very similar situation with the blood: high hCG (1.81 MoM), low PAPP-A (0.65 MoM) and my combined risk came back as 1:9, even though my US measurements at 12 weeks were good. (NT=2.3). I wanted to avoid amnio at all costs, but with such high risk result I thought I would have no choice. However, I then learned about and took advantage of the new diagnostic test which is only available in the US as of now, because it was marketed only about a month ago (cutting edge of genetic testing), which looks for fetal DNA in the maternal blood - so it is a non-invasive blood test that costs $235. It has 99.8% accuracy, so basically the same as doing the amnio. It came back negative for Down syndrome in my case. While waiting for the test results, I went back to do another US at 13.6 weeks to get further reassurance because I believed the US was a more reliable indicator compared to the blood work, and the baby looked normal once again, with NT even less than at 12 weeks, 1.8. So I am pretty sure your baby is fine, given the US findings, but it is up to you, of course, whether to do amnio or not, especially if you want to know for sure.

WOW my genetic counselor today mentioned this new blood test. I might do it if my risk is high....

 

[carleen]

On wednesday i went to my doctor and was told the babies nuchal fold was 3.5 and when she put my bloods my age weight etc on the computer they gave me 1.48 i was devestated as this is my third baby and my other 2 are just fine, she checked everything else on baby nasel bone was seen head brain stomach arms legs heart were all fine. Anyway i was so upset i needed to know 100% so opted for cvs had it done today was very uncomfortable but will know preliminary results tomorrow im very frightened as i know i couldnt handle a baby with ds its just something myself i couldnt go through, has anyone else been in a similar situation ?