Genetic counselor update

First off, they tried to cancel my - the counselor was sick and my MD's office called to tell me to call Monday to reschedule for next weekend. No way, I wanted an appointment TODAY
I called another place and made it happen.
I was so glad they squeezed us in.

So the fact are it was the bloodwork that flagged me. The neckfold measurement was actually fine. My MD told me the risk was calculated based on BW, neckfold & age - getting me to 1 in 99 for downs. So it was a high HCG and low whatever the other thing is.

When we left we decided to have a genetic sono at 16 wks and quad screen and go from there, but now I can't decide if maybe I should just forego the screening tests and get the amnio.

I'm REALLY freaked by the amnio, but I know it's the only definitive test.

A friend's sister had risky ultrascreen results and then markers on 2 more screens, had the amnio and was fine - so I wonder will I encounter more stress with the screening.

If you got risky ultrascreen results, how did you proceed and how did you decide?
TIA!

Re: Genetic counselor update

No advice, just want to give you tons of . Sorry you are going through this.

Re: Genetic counselor update

I had an abnormal cvs and decided for the amnio. The amnio was really nothing and easy. Im so glad that I did it.

Re: Genetic counselor update

Just bumping with update that my MD gave me inaccurate info - my risk was based on my bloodwork, NOT the neckfold measurement (she told me it was both).

Re: Genetic counselor update

I had the exact same thing...was strictly bloodwork and the neckfold measurements were fine.

I wasn't about to risk an amnio when it was a bloodwork issue. So we opted to do nothing else at that time. At my level II, the baby was PERFECT.

It's such a personal choice, but go with your gut instinct...whatever will give you the most peace of mind...

Re: Genetic counselor update

it is a very personal choice- but with my son i researched it alot - he came back on the high neck fold plus i already have a correating factor to downs

after researching i was not as scared of amino - there are studies that show the risk is less especially when you take away the problems and those babies were sick to begin with

good luck with whatever decision you make - but stressing before you know anything is not worth it but that is easier said than done

Re: Genetic counselor update

I also had higher risk for Downs based upon bloodwork and my age, but the neckfold measurements were fine
we met with the genetic counselor and decided to go straight for the amnio (at that point we were past the time were cvs could be done anyway)

the amnio went totally fine and we also had the FISH test done which gave us the results for Downs (totally negative) the next day. We're still waiting for the rest of the results on the amio but knowing the Downs risk is gone has really helped put my mind at ease.

The risk of amnio is really really low, and for us was the best choice. It's really something that you guys need to decide for yourselves though

Re: Genetic counselor update

As far as I understand, the three factors, bloodwork, age and neckfold measurement are all factored in when coming up with your ratio.

To give you peace of mind, my sono tech she has never seen an amnio come back positive for Downs after seeing a normal neckfold measurement.

My ratio was 1:1,700 and after sequential screening at 15 weeks it was 1:10,000. Had it come back at risk, I believe I would have had the amnio for peace of mind.

Message edited 4/18/2011 1:57:52 PM.

Re: Genetic counselor update

I did the CVS and it was quick and not very painful. It was better for us to know for sure.

Re: Genetic counselor update

Re: Genetic counselor update

I had almost the same situation as you. Neck fold was fine at .9, then the BW came back high HCG and low PAPP-A, making my risk 1:108.

We had decided, even before knowing the results of the BW to do the additional test (in our case it was the CVS, if the results for the DS came back higher than the risk of miscarriage. So when it came back as it did, then we went forward with it.

Its a personal decision. You need to do what you are comfortable with. For us it was about knowing, so we could be prepared.

Re: Genetic counselor update

First I know how scary this must be for you.

When I was pregnant with DS, my ultrasound came back with markers for Trisomy 13, 18, 21 and a couple of other issues. I also had some funny blood work.

They were pushing me for the amnio but I just was not comfortable with it knowing how many false positives come with these types of tests early on. The risk, albeit small, wasn't worth it to me yet.

I met with a genetic counselor, she reviewed all my test, and we agreed on extra ultrasounds and blood work. I had a full panel done, then a ultrasound at 15 weeks, 18 weeks, 22 weeks. 22 weeks was when I was taken off high risk. Had my results in my blood work come back "fishy" and the markers had not diminished by 15 weeks I probably would have gone for the amnio.



At the 15 week appointment all the markers had disappeared but one, by 18 that was gone as well.

t is SUCH a personal decision, but if "I" were you I would wait until the next ultrasound.

Good luck with whatever you decide.

Re: Genetic counselor update

no advice, but hugs... A friend was flagged, but the additional screens were fine and so was the baby!

Re: Genetic counselor update

Posted by Mommy2Boys

Posted by cgdg61606

To give you peace of mind, my sono tech she has never seen an amnio come back positive for Downs after seeing a normal neckfold measurement.

I was told the same, very unlikely. Also, the blood work for the downs test has a very high false positive rate.

Ultimately you have to do what you feel most comfortable with