Difficult decision -CVS or amnio?

[MyFullHouse]

I just got the call with my NT scan results. I had braced myself for false positives after hearing so many stories, but these numbers hit pretty hard. While Downs was at no increased risk, Trisomy 13 and 18 are coming back at 1 in less than 5. With those numbers, I know I will do *something* so I can prepare myself and my children if need be.

I have an appointment with my mw tomorrow afternoon and genetic counseling with a reserved spot for CVS if I choose to do so. Otherwise, it's about 3 more weeks before an amnio can be done.

I've *never* had invasive testing done before. I'd love some feedback to give me points to discuss with dh, my mw and genetic couselor. TIA!

[Climbergirl]

First of all, here is a seriously big hug for you!

This is something that I have thought about a lot since we decided to do the NT test. I guess for me, it comes down to what would you do if they find out that your baby has trisomy 13 or 18? Can they confirm the diagnosis through the 20 week ultrasound? Can you get an earlier ultrasound (especially since the amnio appt would be 3 weeks anyway) that could confirm the diagnosis?

My mw told me a story about a lady who went through invitro to have a baby, did the NT test and it came back with a high probably of issues. She did an amnio and miscarried because of it. The amnio results said the baby was normal. That would be my absolute worse fear!

I guess my question would be what is the alternative and can you wait until the anatomy ultrasound? And if you did, could you terminate then (I guess that depends on the laws of your state)? That reminds me to look up the laws here.

Sorry, I only have questions too, because I have yet to really find good answers to these questions.

I hope that everything is ok and this is one of those "false positive" kind of issues. Sending you and your baby healthy vibes!

[lillymonster]

Where the results also calculated along with your blood tests results? Can you get another NT scan with someone else to verify before you make the decision for something invasive?

I had a friend who had a concern on the NT u/s and then eventually went to a specialist an hours drive away who said everything looked fine. And her baby was fine when he was born.

[RedOakMomma]

The best advice I got is to weight the odds of something being wrong with the baby vs. the odds of something going wrong with the amnio.

A qualified dr. will probably have a complications rate (with amnios) of between 1 in 500 and 1 in 1,000. My peri said he would feel comfortable assuming the risk of complications with him at around 1 in 750.

Now...our odds of a devestating genetic disorder that our oldest kids have/had was as high as 1 in 50.

1:50 vs. 1:750

No question for us, we wanted to test. Would it help you to discuss the risks of complications and the odds of complications with your mw and doctors? 1 in 5 is pretty high...but it's still an 80% chance that everything is okay.

[PrettyHippie]

Oh mama...so many your way. This certainly can not be easy for you. You know, I lost a baby girl this past Christmas to some type of genetic abnormality at 20 weeks. She had some physical abnormalities and severe abdominal hydrops. Most likely a Trisomy. It was devastating. I've thought many times what it might have been like had we done a 12 week ultrasound. They certainly would have found something and surely we would have gone on to have further testing only to find out what we eventually did anyways when one day, she just stopped moving. Now I want you to know that I am not telling you any of this to scare you at all. What happened to us was very rare and like PP said, you have an 80% CHANCE that everything is going to be totally ok! That is very good! You know, in our case I'm actually glad that we didn't know the inevitable before it happened. I wouldn't have been able to just enjoy those precious last moments with her in innocent bliss. It would have been overshadowed with so much sadness and pain. And in the end even if we would have known ahead of time...the best medical team in the world would not have been able to save her or fix her. It was going to be what it was no matter what, no matter what testing we did. In the end that gave us an amazing sense of peace. So...no matter what you decide is best for you and your family, and no matter what outcome, know that there are others who have been on both sides of the fence you're sitting on. And once you know what side of that fence you are on there will be many waiting for you with open arms. Please keep us posted and let us know if there is ANYTHING else we can do. I wish you all best.

[peainthepod]

[jenifera2]

If you're looking for help deciding between the two tests, here are some things I considered when making that choice:

CVS takes tissue from the placenta either using a catheter through the cervix or through the abdomen.

Amnio takes amniotic fluid using a needle through the abdomen.

They have similar risks, though from what I've read amnio is less risky (as far as inducing miscarriage) than CVS. Those specific numbers are worth discussing with your genetic counselor and/or the doctor who will perform the procedure.

If I remember right, it is possible with CVS to get inconclusive results that would then require an amnio to get positive results.

Amniotic fluid can also be screened for open neural tube defects.

Your genetic counselor should go through all of this with you and offer lots of information that will help you make up your mind. You shouldn't have to make up your mind on the spot. You should definitely be able to call back with questions that come up as you think over the information they provide.

A friend of mine was very uncomfortable with the idea of a needle puncturing the uterus, so she opted for CVS. I couldn't stand the thought of anything entering my uterus through the cervix and taking tissue from the placenta, so I opted for an amnio. Each procedure has advantages and disadvantages over the other, so there's definitely no one right answer.

I hope you get all the info you need to make a decision you can be comfortable with, and that everything works out well for you and your family.

[bri276]

I did the CVS with this pregnancy because I have a chromosome disorder, and a daughter with a chromosome disorder (who wasn't diagnosed prenatally, btw, and whose birth defects were not caught on the level II ultrasound), and several miscarriages due to the chromosome disorder...see where I'm coming from?

CVS is not any more risky than amnio for causing miscarriage IF it's done by a very experienced doc. I'd go to the place that does the most, even if it means driving a distance- I drove for an hour so I could go to Yale. I had mine done at 11 weeks. I had the results, which came back healthy, exactly a week later. The way they do it is determined by the location of your placenta- mine was done through the abdomen. It was quite a pinch, but it wasn't horrible. I had no complications and no problems afterward. Sometimes they need to go in through the cervix, which I've heard is comparable to a pap and then the same type of pinch.

I hope everything turns out okay. I know how scary it is.

[jennica]

Originally Posted by Climbergirl

This is something that I have thought about a lot since we decided to do the NT test. I guess for me, it comes down to what would you do if they find out that your baby has trisomy 13 or 18? Can they confirm the diagnosis through the 20 week ultrasound? Can you get an earlier ultrasound (especially since the amnio appt would be 3 weeks anyway) that could confirm the diagnosis?

The NT test is NOT a diagnosis. It just tells you what your personal risk factors are. The only way to have a concrete diagnosis is through CVS or amnio. Ultrasound is even less accurate than an NT test in picking up chromosomal abnormalities. Ultrasound can not provide a diagnosis either, it can only pick up soft markers that might indicate a chromosomal issue. Again, if these markers were picked up on ultrasound the only way to get an accurate diagnosis is to have a CVS or an amnio.

[MyFullHouse]

Thank you for the input (and keep it coming!). I haven't had much of a chance to answer questions, as I've been alternating between research, processing, and making arrangements for our kids to be cared for while we're busy with our appointments today and tomorrow.

FWIW, the numbers were taken strictly from my blood test. They did not note any physical abnormalities at the time (though I will say we have a stubborn bugger who wasn't cooperating AT ALL ).

Right now, the biggest point I want to ask the doctors about is a report claiming a 20% false positive rate for 18 and 13 with CVS testing. As it stands, they're giving me around 20/80 odds. If the study is correct and the test is positive, I'm going to have 80/20 odds???? If I'm going to take a risk, I'd really like for it to be one that comes with answers!

So much to discuss. I'm managing to stay relatively calm, but my brain is fried!

[corban's mum]

have you asked yourself what you would do IF there is anything wrong with baby?

because if termination isnt an option then maybe just dont test and see what happens or wait for the amnio which normally has slightly better results as far as m/c,repeat tests being needed etc

if it is an option and u'd rather do it sooner than later then maybe cvs is the best route for u

my result for this pg was 1:15 which was based on the nuchal thickness scan (she was also a realllllly difficult baby to catch in a good angle it took an hour, little wriggler!) and blood tests, that result was very high and worrying for a 24yr old especially as at my age it starts off at like 1:2000 so I chose to have an amnio at 15 weeks 1 day, cvs wasn't an option for me at that stage, im sure had it been the other way around i wouldve rushed into a cvs but looking back im glad i had amnio instead. blood tests alone arent really reliable - they only take into account what your hormone levels are on that day, we are allll different and our levels fluctuate. mine were all rock bottom

my daughter's neck was 2.9mm thick which is in the high risk catergory, but when i look at her profile in the picture we got she just looked like her daddys profile lol

also she had/has a nasal bone - they dont take that into account in the uk for some reason - even though only 1 in 5 babies with downs etc will have a nasal bone and theyre usually shorter, so bare in mind that slight differences in the way ur baby and blood results are measured from hospital to hospital can have a massive effect on ur ratio

i really REALLLLLLLLLLLLYYYY feel for you, i spent the whole time between getting the initial screen results/having amnio/getting results screaming into a pillow in hysterics making all kinds of bargains with all kinds of gods and forces and powers that be

fortunately for me I got the phone call to tell me that she is absolutley fine, i fell down crying in the street with joy

at every scan since she has been developing up along the average lines on the measurement charts, a perfectly normal average wonderfully boring baby

you have an 80% chance of your story turning out like mine has so far mama

i was told to prepare for the worst, that things didnt look too great and was even booked on for a termination, then suddenly it all changed - they got the result and said "actually your results werent THAT low you're fine see ya later bye bye go have ur baby"

so as bad as it seems now the chanceS are you're gonna be fine and wonder what all the stressing and fuss was about. i can't say 100% that your LO is ok but how many mommas can say that their LO's are until theyre actually born anyway? at least you know so far ur 80% certain and just gotta go smooth out that last 20 IYKWIM

don't worry about people judging you for whatever choices you make, i for one can say they nobody can give an opinion on this unless theyve been there - it's deffo "you have to live it to get it" senario and whatever you choose to do will be the right thing, what is meant to be will be, so feel happy that ur choices are the right ones for u when you make them.

goodluck

[Climbergirl]

Originally Posted by jennica

The NT test is NOT a diagnosis. It just tells you what your personal risk factors are. The only way to have a concrete diagnosis is through CVS or amnio. Ultrasound is even less accurate than an NT test in picking up chromosomal abnormalities. Ultrasound can not provide a diagnosis either, it can only pick up soft markers that might indicate a chromosomal issue. Again, if these markers were picked up on ultrasound the only way to get an accurate diagnosis is to have a CVS or an amnio.

Yes, you are correct. I guess my wording was not conveying what I meant (something about a toddler pulling on me probably did not help!). They are saying she has a high risk for those 2 abnormalities. I was curious if they could pick up and conclusively say if the baby actually had either of the 2 through ultrasound or if it HAS to be CVS or amnio.

I guess I was also trying to weigh the risks of the CVS/amnio procedures to waiting until the next ultrasound. And I was also wondering if you could have a more detailed ultrasound prior to 20 weeks that would be able to show you that more of the markers were there. I guess I would want to see more "proof" than the NT test before I scheduled a more invasive test. But I am not sure that reasoning makes sense?

[jennica]

Originally Posted by Climbergirl

Yes, you are correct. I guess my wording was not conveying what I meant (something about a toddler pulling on me probably did not help!). They are saying she has a high risk for those 2 abnormalities. I was curious if they could pick up and conclusively say if the baby actually had either of the 2 through ultrasound or if it HAS to be CVS or amnio.

I guess I was also trying to weigh the risks of the CVS/amnio procedures to waiting until the next ultrasound. And I was also wondering if you could have a more detailed ultrasound prior to 20 weeks that would be able to show you that more of the markers were there. I guess I would want to see more "proof" than the NT test before I scheduled a more invasive test. But I am not sure that reasoning makes sense?

I see what you are saying. But, the NT test includes a very detailed ultrasound scan that checks for specific indicators of chromosomal problems (the thickness of the back of the neck, and a nasal bone). If this ultra sound is included with the blood test, the results are quit accurate, but they are only a risk factor, not a diagnosis. An anatomy scan ultrasound, or any other ultrasound would be far less accurate because other factors are not taken into consideration (the mother's age and her blood tests). An ultrasound alone is not a good way to detect chromosomal abnormalities, and women are recommended to not depend on these for this.

[cloe]

I had a amnio at 15 weeks. I didn't have the cvs because we couldn't get the apt in time. For us the decision was taken out of our hands, however as a previous poster mentioned the amnio also tests for more things and has a slightly lower miscarage rate so we were happy with going that route. What you have to take into consideration also it that the test takes 2 weeks to complete, so you may wait 3 weeks for the amnio and 2 for results. 5 weeks is a looooon time to wait for some answers. So for you cvs may make more sense. That is an answer much sooner.

The fear was definatly greater than the actual test. The amnio is relativly painless, the most unpleasant is a snap that you kind of feel as the needle goes through the sac. In level of pain it is similar to a blood draw, not what you look forward to but not something to be terrified of.

I suppose the real question is what would you do with the information if it were bad news. This may be a case of the sooner you know the better. Also maybe research a little about the particular abnormalities. That is are they compatable with life in the long term ect. I found that I couldn't stand the idea that I would birth a full term baby only to have it die a couple of days later. You may feel similar or totally differently than I did.

Everything turned out well for us and no genetic abnormalities were found. It was a relief to hear but an enormously stressfull time to be in limbo. I wish you the very best and hope everything turns out well for you also.

[NicolleLynne]

Hi Mama,

First off, I am so sorry you're faced with this decision. It's a tough position to be in and there are no easy answers. I've had two losses, both due to genetic abnormalities. My first baby had triploidy (an entire third set of chromosomes) and with the second, it was too early to tell (8 weeks). When I got pregnant for the third time, I needed to know as soon as possible if I my little one was okay so after a lot of research and soul searching, I had a CVS.

The best advice I can offer you is to talk to a genetic counselor, do not rely on information found on the web, much of which is false, biased and outdated. Genetic counselors have access to latest facts and can give you specific information about the physician who may or may not be performing your test (an experienced perinatologist should have the same miscarriage rate for CVS and amnio). Do not make a decision until you've had the opportunity to sit across from an expert and have all your questions answered in detail.

I had my CVS through the abdomen. The entire process took about an hour and the needle was in and out in about 30 seconds. It was uncomfortable but not painful. I opted for the rapid FISH results which came through in three days and were, mercifully, negative. The full screen came back ten days later and were also good. Three weeks ago I had a healthy baby girl.

There are no right or wrong answers here. Only what you need to do for you and your baby. I hope you can be at peace with whatever choice you make - more than that, I hope that your little one is just fine. Best wishes and best of luck.

[alexisfaye]

that harrowing call from the doc

So last week I got the call on Monday that my anatomy scan showed some abnormalities that were soft markers for Trisomy 18. They wanted me to go in for a level 2 ultrasound, and genetic counseling.

We had a lot of time between Monday and the Friday of the second ultrasound to think/worry/plan, etc. It sounds like the markers you have are a lot more definitive, but they can tell a lot from a level 2, and can fairly definitively say "nope, you're good" (nothing's ever perfect, right?)

So I would suggest a follow up ultrasound with a specialist, and THEN if it's not looking good, really think about what you want to do.

I think the story about amnio from the midwife is good. Or, as my husband put it, why kill three babies to find out only one was abnormal? We had decided that we wouldn't do any invasive testing, but we were really, really lucky to get good news.

You're in my thoughts and prayers, either way!

[MyFullHouse]

Mini-update

Went to my regular mw appointment today. Of all the luck, I got stuck with the one mw (out of 3) that I've never really clicked with in my 7+ years there. Also, even though I had called yesterday to make sure my results had been faxed, they weren't read until I entered the room, so I was being counseled on the fly. I finally broke down, but I think most of it was out of frustration.

I will say that she isn't thrilled with the idea of CVS at 13w1d according to the Minus 3 Months Plus 7 Days rule, 13w3d according to the 40 week rule, and 13w5d according to u/s measurements... which now makes me uncomfortable with it.

I have a feeling we'll be waiting until we can do an amnio, but I want to hear what the genetic counselor has to say first.

I'm *really* appreciating all of the support and good thoughts!

[Climbergirl]

So, is the ultrasound they do for the NT test, not the same level as the anatomy one? The anatomy one is the level 2 ultrasound, correct?

MyFullHouse, that would frustrate me to death! Seriously, this is extremely important to you and you want to make sure they are thinking it through too! I hope the genetics counselor can give you information that will help you be at peace with your decisions. And please let us know what they say.

Just keep remembering the 80%, okay?

[Carolinamom4]

I am sorry you are facing this decision. So tough. I would want to know conclusively, as early as possible. I hope the genetic counselors give you some good facts upon which to base your decision. Have you had an ultrasound at all?

You and your baby are in my thoughts and prayers. I hope you find you are in the 80%. I would definitely have some testing given the numbers though.