1st Trimester Genetic Screen and CVS

Kirstin123

We had our first trimester screen last week. It came back with an elevated risk for Downs (1/55 or 2%, which is still quite low.) Because it is important to us to have as much information as possible as soon as possible, we decided to go with a CVS, which we did today. 

All in all, the procedure wasn't too difficult, though it does carry a less than 1% risk for miscarriage-a frightening proposition. They attempted trans-cervical CVS, but because of the location of the placenta, had to do trans abdominal instead. Risk for miscarriage goes back to normal if we make it past 72 hours, which will be Monday. I'm feeling fine so far, which is great. Please keep fingers crossed. Doc wasn't sure he got a large enough sample to provide information, but we'll know that in 10-15 days when we get results.  Please keep fingers crossed for that also.

Hope everyone has a restful and fun weekend!

35nhappy

Lots of positive thoughts headed your way!!!

mer313131

Many thoughts and prayers. I love your great attitude, it will come in handy during the rest of your pregnancy for sure!

Sofia2529

Sending lots of positive thoughts your way!

Emerald27

T&Ps for you and your little one. FX for good news!

MrsL2B

I'm hoping for the best for you.

LEP424

Sending positive thoughts your way!

TheFutureMrs.O

Thoughts and prayers! Exact same thing happened to me yesterday. Feels good to not be alone! Nt scan showed high risk measurements. Did the cvs immediately. Was able to do transcervically but had to do it 2x to get enough sample. Should have FISH results on Monday. I didn't know about the 72 hr thing. Great info. I have a doppler and found baby easily today.

GretchenWeiners7

FX that everything is fine!

Kirstin123

Thanks a bunch everyone. The positive vibes are coming through strong and mean a lot! @TheFutureMrs.O, thinking of you also and hoping for great results. What are the FISH results? Are they the preliminary results one can get?

MrsSinner402

FX for good news

vrj0522

T&P for good results and a healthy pregnancy!

jesslinnn

FX everything is okay. 

Leysin97

FX thar all is well.

BeachLover2885

Sending you positive thoughts!!

MelanieAdam0707

Fx all goes well! Sending positive energy your way.

MrsMac613

Sending positive thoughts! I hope you get good results!

LaDyBostonRN

Thinking of you! Keep us updated please!

Runninggal28

Thinking of you! Positive thoughts sent your way!

msturgeon11

Lots of love, thoughts, prayers, and positive vibes being sent your way. Keep us posted on how you are doing. ((Big Hugs))

MrsSarahRenee

FX for you! Lots of positive thoughts heading your way!!

Runninggal28

Thinking of you! Positive thoughts sent your way!

Kirstin123

Thanks so much, Bump friends, for so many positive vibes and thoughts! What a caring community. Made me tear up a bit when I read all the positive vibes and thoughts. We've made it 48 hours and I'm feeling good! Test results will be back in 10-15 days, hoping we'll hear soon about the sample size and outcomes and will have our minds at ease. 

lrobi13

FX for you!

TheFutureMrs.O

Kirstin123 said:

Thanks a bunch everyone. The positive vibes are coming through strong and mean a lot! @TheFutureMrs.O, thinking of you also and hoping for great results. What are the FISH results? Are they the preliminary results one can get?

Yes, they are the early results for 21, 18, 13 and gender. Keep us updated! Still thinking positive!

ANGnJON

FX for you! Positive vibes coming your way!

flyinmommy

All positive thoughts coming your way.

Kirstin123

Hi All, Unfortunately we heard back from the Dr. today that they weren't able to get enough sample to run the tests. Very, very, very disappointing (and as we understand, extremely rare). Frustrating to have gone through a scary and invasive procedure and not have anything to show for it! 

We can and will do an amniocentesis at 15.5 weeks. Results take 10-15 days, so we'll know whats going on in a month. 

Trying to stay focused on how lucky we are that everything went fine with the CVS and remembering that this time where we haven't widely shared about our pregnancy is a special time for our family to hold a dear and exciting secret close. 

In the grand scheme of life this month with be a blip in our memories. Thanks for all the good thoughts! 

jandcgetmarried

Sending Positive Vibes Your Way

ss265

Kirstin123 said:

Hi All, Unfortunately we heard back from the Dr. today that they weren't able to get enough sample to run the tests. Very, very, very disappointing (and as we understand, extremely rare). Frustrating to have gone through a scary and invasive procedure and not have anything to show for it! 

We can and will do an amniocentesis at 15.5 weeks. Results take 10-15 days, so we'll know whats going on in a month. 

Trying to stay focused on how lucky we are that everything went fine with the CVS and remembering that this time where we haven't widely shared about our pregnancy is a special time for our family to hold a dear and exciting secret close. 

In the grand scheme of life this month with be a blip in our memories. Thanks for all the good thoughts! 

Rather than go through an amnio, could you do one of the fetal DNA tests instead? Like Maternit21? That way, you can take the test now and get results sooner. I would think that you qualify for the fetal DNA test since you have an elevated risk for Down's but I could totally be wrong.

FX that everything works out for you.

lrobi13

ss265 said:

Kirstin123 said:

Hi All, Unfortunately we heard back from the Dr. today that they weren't able to get enough sample to run the tests. Very, very, very disappointing (and as we understand, extremely rare). Frustrating to have gone through a scary and invasive procedure and not have anything to show for it! 

We can and will do an amniocentesis at 15.5 weeks. Results take 10-15 days, so we'll know whats going on in a month. 

Trying to stay focused on how lucky we are that everything went fine with the CVS and remembering that this time where we haven't widely shared about our pregnancy is a special time for our family to hold a dear and exciting secret close. 

In the grand scheme of life this month with be a blip in our memories. Thanks for all the good thoughts! 

Rather than go through an amnio, could you do one of the fetal DNA tests instead? Like Maternit21? That way, you can take the test now and get results sooner. I would think that you qualify for the fetal DNA test since you have an elevated risk for Down's but I could totally be wrong.

FX that everything works out for you.

Yep, my doctor told me that the follow-up test for the quad screen is the Maternit21 test not the amnio.  It is worth a shot to have results sooner and a little less invasive. fx for you!

eta: put not in wrong place!

Sockgnome78

Prayers headed your way.

TheFutureMrs.O

Awe man. I am so sorry. Will continue to keep you in my thoughts. This is such a rough time. The amino will be here before you know it!

Kirstin123

Hi All,

Thanks for continued follow up. So thoughtful! We can go ahead and do the Fetal DNA test if we'd like. The trouble is, that test isn't conclusive. It simply gives an indication one way or the other. At least that's my understanding. If others know of research or publications that show differently, please share! 

Since my husband and I are both people who like to know 100% about stuff (type As here!)  we want to be sure we've got the best info we can. We thought about Fetal DNA testing in the meantime, but decided that since we'd want to do the Amnio regardless, it seems silly to do in the interim. If signs pointed toward Downs, we'd still want to do the Amnio and be more worried than we already are. If signs pointed toward no chromosomal problems we'd get our hopes up, and think the let down could be harder if the Amnio comes back pointing toward Downs. 

These are so many different ways to tackle something like this, all of them valid, and I've known folks who have gone with the fetal DNA test and had good results and slept easy with those, so its definitely a good option! Here's hoping that 5-10 years down the line there is much stronger evidence for the Fetal DNA tests which will spare people some of these more invasive procedures!

NYGWildcat

I hope you get some reassuring answers soon! I'm sorry they didn't get what they needed from the CVS

Kirstin123

This post is so old now and it's hard to believe we've waited a full 9 weeks for this news BUT, today we found out that our baby is chromosomally normal!!! We couldn't be more thrilled!! While I would never wish this kind of wait on anyone, it is making this stage in our pregnancy that much sweeter. We are just beside ourselves with the news. We also found out we're having a baby boy! Thanks again for the good vibes-- they helped! 

lrobi13

I am so glad that you got the good news, finally!  I can't imagine how hard it must have been to wait so long.  Congrats on your little boy!

 

ss265

Yay! Congratulations!

archi35

So happy for you - congrats!!

golfingdarwinfish

ss265 said:

Kirstin123 said:

Hi All, Unfortunately we heard back from the Dr. today that they weren't able to get enough sample to run the tests. Very, very, very disappointing (and as we understand, extremely rare). Frustrating to have gone through a scary and invasive procedure and not have anything to show for it! 

We can and will do an amniocentesis at 15.5 weeks. Results take 10-15 days, so we'll know whats going on in a month. 

Trying to stay focused on how lucky we are that everything went fine with the CVS and remembering that this time where we haven't widely shared about our pregnancy is a special time for our family to hold a dear and exciting secret close. 

In the grand scheme of life this month with be a blip in our memories. Thanks for all the good thoughts! 

Rather than go through an amnio, could you do one of the fetal DNA tests instead? Like Maternit21? That way, you can take the test now and get results sooner. I would think that you qualify for the fetal DNA test since you have an elevated risk for Down's but I could totally be wrong.

FX that everything works out for you.

Amnio & CVS are the only way to get a full karyotype and the most definitive answer.  A karyotype is the only way to get an image of the full set of chromosomes.  If a patient presents with a positive MaterniT21 or another cell free DNA test the MFM will still confirm with an amnio.

ETA: Just realized I replied to an old thread! 

Congrats OP on great amnio results!!  

Eastie156

Kirstin123 said:

We had our first trimester screen last week. It came back with an elevated risk for Downs (1/55 or 2%, which is still quite low.) Because it is important to us to have as much information as possible as soon as possible, we decided to go with a CVS, which we did today. 

All in all, the procedure wasn't too difficult, though it does carry a less than 1% risk for miscarriage-a frightening proposition. They attempted trans-cervical CVS, but because of the location of the placenta, had to do trans abdominal instead. Risk for miscarriage goes back to normal if we make it past 72 hours, which will be Monday. I'm feeling fine so far, which is great. Please keep fingers crossed. Doc wasn't sure he got a large enough sample to provide information, but we'll know that in 10-15 days when we get results.  Please keep fingers crossed for that also.

Hope everyone has a restful and fun weekend!

 

Op, thinking of you during this time. We just went through this same situation ourselves, except our testing initially came back high risk for Trisomy 13. It was an incredibly scary few weeks. ((hugs))