High risk for Downs

bigj4

I just saw my OB today I had my nucheal ultrasound and bloodwork done a few weeks ago. The dr is sending me for an anatomy ultrasound scan in 2 weeks because he said the bloodwork came back showing my baby has a higher risk of downs syndrome. I'm freaking out about this now because of course every single thought is running through my mind. Has anyone been in a similar situation?? First baby and I'm about 16 weeks along..

c1tym0m22

I was indeed in a similar boat - I had Maternti21 done simultaneously with my NT scan and so it was a painful week of waiting for results (which came back negative) after getting some not great odds from the NT/bloodwork combo. 

One question - the anatomy scan won't give a definitive diagnosis. Did you consider CVS or an amnio? Both of those will be conclusive (and yes, invasive). 

Hang in there!

bigj4

I didn't think to ask my dr about those tests. Always think of questions after the fact! I might ask my family dr about it. 

silliegirlie143

My sister got the high marker for Downs results on her NIPT. She had the amino done and it was good news. Her DD is just fine. There is definitely a chance that everything is fine. 
The waiting is the hardest part...
Hang in there!!

anitamargarita_82

I had a test come back for something as well.  I was told the CVS tests the cells from the placenta and may not be accurate if your placenta has issues.    I had an amniocentesis to find out what was really going on.   The waiting is hard.   But if you have the amniocentesis you can also get a FISH test that will give you answers within 48-72 hours with a 98% accuracy rate of whether or not your baby has downs. FISH tests for the trisomys, downs, and Turners.  

brooklynmama718

bigj4 said:

I just saw my OB today I had my nucheal ultrasound and bloodwork done a few weeks ago. The dr is sending me for an anatomy ultrasound scan in 2 weeks because he said the bloodwork came back showing my baby has a higher risk of downs syndrome. I'm freaking out about this now because of course every single thought is running through my mind. Has anyone been in a similar situation?? First baby and I'm about 16 weeks along..

You need to get the amniocentesis to confirm. I'm sure your doctor knows about this test. I think you might be too late for cvs. Get amniocentesis for sure. 

bigj4

I found out that my nuchal measurement was 2.26mm which from what I read is normal range. Hoping that my dr is just being extra careful. After my level 2 ultrasound I should know more about whether or not an amniocentesis is recommended. I think if he was very concerned he would have sent me for one right away

anitamargarita_82

@bigj4 doctors will only do an amniocentesis after a certain week period.  I had to have one and had to wait for my baby to get to a certain size otherwise they don't get enough of the babies cells in the amniotic fluid.  Either way it's your decision to have one or not. 

2610cherie

I had a high reading for my first.

They offered me amniocentesis to confirm. The chance of miscarriage was 1 in 100. My chance of downs was 1 in 250 i didnt want to take the higher risk with amniocentesis so i waited and my boy is fine.

What i would say is that downs as much as we dont want our children to have this....they can lead a happy and quite normal life. 

Even if my boy had it...i would love him no less! 

bigj4

Finally recieved a phonecall regarding my appt. I'm scheduled for genetic counselling with a possible amnio immediatly afterwards. I told the lady on the phone that it was my understanding that this appt would be a level 2 ultrasound. She said no that they already have my 12 week ultrasound results and a level 2 cant be done until 19 weeks. I thought I wasnt stressed out until now. I think Id rather have an amnio done after a level 2 ultrasound to look for other markers first. 

anitamargarita_82

I don't know what a level 2 ultrasound is?  The amino isn't really that bad.... the worst part is the fear leading up to it.  It's not really painful at all.  Just stressful to think about.  I was grateful for the peace of mind it brought though from the results.  Are they going to do the FISH test with it as well?

soontobemrsdavis

We had two different results. AFP showed increased risk, but informaseq and the NT scan showed no increased risk at all. We met with a genetic counselor and based on our conversation we decided not to do Amnio. Good luck with whatever you decide! Those two weeks before my genetic appointment were the longest two weeks ever!

BellaO21

In no way do I want you to take this as me slamming you, or in a negative way. I hope everything turns out well...I would never wish Downs Syndrome on anyone!!
 Just like @2610cherie mentioned Downs children/adults can still lead very happy/normal lives... it's all about how much you work with them to make sure they live up to their potential, and never EVER say they can't do something because of the "disability". 

Sorry, this is a tad bit of a touchy subject with me as my younger (now 23) year old sister has T21. I couldn't imagine her any other way. She is simply amazing. I won't sugar coat it and say that  it's always easy, because it's not.  But, it's worth it. It's definitely not the worst case scenario. 

Poppy2014

I failed my screens and the doctor said it was due to advanced maternal age and the way the statistics are calculated.  To be on the safe side and because I wanted to know for sure to be prepared we did an Amnio in December and it came back fine.  The only thing I will say is that having the information has helped reduce my worry and stress and the Amnio wasn't as bad as people say.  Good luck on your decision.