Who is getting a CVS test - testing for down syndrome

rsmall326 · April 2014

Sounds like a scary test - please share if you have had one in a previous pregnancy

jess123456 · April 2014

I have had one before. Sadly we lost our baby girl to a terminal diagnosis in the second trimester in 2012. I opted for this after a NT scan that showed many markers for a chromosomal abnormality. We were completely blindsided because everything seemed to be progressing perfectly up until that appointment. Going forward I would only do the CVS if we found markers from our NT scan that indicates that we should get more information. The CVS does far more than just test for trisomy 21. Our daughter didn't have any of the trisomies that they typically test for in the blood tests offered by week 10 so it wouldn't have come up then though this pregnancy I will do the blood test just for some peace of mind given my history.

The procedure itself was obviously very emotional given the situation but physical pain wise it just felt like pressure. They do it of course via ultrasound so they don't harm the baby. Like any procedure it comes with risks but we were able to conclude our baby girl's diagnosis. They essentially take DNA from the placenta and we received the results a week or two after.

rsmall326 · April 2014

So sorry for your loss. Thanks for sharing

jess123456 · April 2014

rsmall326 said:
So sorry for your loss. Thanks for sharing

Thank you. I don't mean to scare anyone at all. Please understand that the chances of this happening are very rare but I did want to share my experience in case it can help someone considering it.

MrsAdventure · April 2014

I have not had one before, but I have had some experience with the other tests that can lead up to such a test. With my first pregnancy, we did the NT scan and got some inconclusive, but worrying news (Zoë was a mover and a shaker, and made things difficult in the tech) and were sent to a specialist. The wanted to do amnio but do to the position of the placenta and a few other factors, it was extremely risky (especially since they were sort of unsure) so we chose to do a blood test know as Verfi. They took some of my blood, and from that, isolated some of Zoë's chromosomes. The test came back showing she had trisomy 13. Generally speaking, Verfi is a newer test and used to help prove amnio. But after an US at 17 weeks, it was pretty obvious that she was not well, and that the blood test was accurate. The details are pretty sad and gruesome so I'll leave that out. We chose to terminate after that, to spare her a life of pain.

The reason I am telling my story is because there are other options, not that the CVS test isn't reliable

Edit: spelling, 'cause apparently, I can't tell the difference between are and our @-)

mamatohne · April 2014

My sister was told there was a 90% chance my niece had down syndrome, she worried for weeks. Nothing was wrong. I have no risk factors, I won't be doing the testing. It also wouldn't change anything for me to know that.

JFH2010 · April 2014

This is an odd question because most people don't go straight to a CVS. With DS I did the NT screen and the quad screen and got questionable results. Based on that, I made an appt for a CVS, but the MFM who did my u/s at that appointment recommended against it. It was his opinion that my questionable numbers weren't questionable enough to justify the CVS, especially when combined with a good u/s result. So I didn't do it (baby was fine). This time around, the early genetic screening is more readily available (Maternity21, Harmony, etc) so I plan to do that.

I didn't answer the poll because I don't plan to get a CVS, but I do plan on genetic testing, and if early tests reveal a need for a CVS, then I'll get one.

Also, I'm sure this will come up a zillion times in the next few months, but it's not true that a diagnosis "wouldn't change anything." It might change where you deliver. It might change how you prepare. It might change what services you need in the first few months and beyond. It most certainly would change something.

rsmall326 · April 2014

Interesting. I asked because my doctor asked me and I didn't know much about it. Thanks for the info ladies.

lisaren · April 2014

@JFH2010‌ so true! It does change everything!

We're having the nt scan at 12 weeks and harmony test same day. Having a daughter with special needs and knowing what I know, I want to be prepared!

chauliodus · April 2014

I don't really understand why it would be worrying to have CVS besides waiting for the results and the inherent risks of the test. If the CVS test obtains tissue, you will know almost 100% if the baby has downs, tri13, tri18 or other chromosomal abnormalities. It's not like you do CVS and they tell you it's 75% likely for a chromosomal abnormality, it's all or none. After the results come back, you would either stop worrying (about chromosomal problems) if the test was normal or then decide what to do if the baby does in fact have a chromosomal issue.

Tests that give you fetal cells give you yes or no answers and aren't the same as tests like the triple/quad screen or the nuchal translucency U/S that gives you a percent risk.

I'll be above 35 at deliver, so will get maternit21 testing included which is a non-invasive test that looks at the babies DNA. CVS has a slightly higher rate of miscarriage than amnio so I personally would wait. If there are concerns with the maternit21 results I would get a amnio for confirmation before making any final decisions.

jess123456 · April 2014

JFH2010 said:

Also, I'm sure this will come up a zillion times in the next few months, but it's not true that a diagnosis "wouldn't change anything." It might change where you deliver. It might change how you prepare. It might change what services you need in the first few months and beyond. It most certainly would change something.

Thank you for saying this. This is so true and having been through it I can definitely say it changes everything and always will.

sunflwra · April 2014

JFH2010 said:

This is an odd question because most people don't go straight to a CVS. With DS I did the NT screen and the quad screen and got questionable results. Based on that, I made an appt for a CVS, but the MFM who did my u/s at that appointment recommended against it. It was his opinion that my questionable numbers weren't questionable enough to justify the CVS, especially when combined with a good u/s result. So I didn't do it (baby was fine). This time around, the early genetic screening is more readily available (Maternity21, Harmony, etc) so I plan to do that. I didn't answer the poll because I don't plan to get a CVS, but I do plan on genetic testing, and if early tests reveal a need for a CVS, then I'll get one. Also, I'm sure this will come up a zillion times in the next few months, but it's not true that a diagnosis "wouldn't change anything." It might change where you deliver. It might change how you prepare. It might change what services you need in the first few months and beyond. It most certainly would change something.

All of this. We did the NT scan with my first pregnancy and numbers were low risk, so no additional screening needed. Last time we did the Panorama genetic blood test (similar to MaterniT). Again, low risk results so nothing more needed.

I absolutely think that information is power. I don't think the people getting these tests are doing so because they would choose to terminate a pregnancy based on the results. It's so that they know what is going on in their pregnancy and can plan whatever may be needed to handle things. If something were to happen, wouldn't you want to be as prepared as possible?

babyknutson · April 2014

My friend did it and it was a positive test (baby would have DS) the baby came out completely normal and healthy....I am not putting myself through that kind of worry if it is not 100%

Lauralie0230 · April 2014

I have been wondering the same thing...get the test done or not. It's a hard decision.I'm not sure if I want to worry my entire pregnancy or deal with whatever issues may arise once my sweet baby is born.

Ps I'm pretty sure tarynleann meant it wouldn't change her decision on whether she would terminate the pregnancy... I

10xEmpire · April 2014

I agree with @babyknutson. If the test isn't a 100% guarantee then I don't want it to affect the next 6 months of what should be one of the happiest times of our lives. There's enough to worry about as a FTM and PGAL.

shan24 · April 2014

I'm having a NT scan and maternal serum screening later on this month. If that comes back saying I'm high risk for abnormalities, I suppose SO and I will have a long discussion with our doctor and make our decision then.

mb314 · April 2014

shan24 said:

I'm having a NT scan and maternal serum screening later on this month. If that comes back saying I'm high risk for abnormalities, I suppose SO and I will have a long discussion with our doctor and make our decision then.

This - if my NT scan comes back at at high risk, then I'll do the CVS scan. Last time, my NT scan came back with a very low risk so I chose not to have a CVS.

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