"intermediate risk" for combined NT/blood test

[Minnifer]

Long story short, the risk of an amnio/CVS is greater than your risk (0.2%) of being the 1 in 499.

This is not the case if you go to a top practitioner for CVS/amnio (there are a handful of very well know docs for this across the country). My MFM is one of these and her rates are currently 1 in 1300 for both. IMO/E it's key to go to someone who does these procedures all the time.

OP, so sorry you're dealing with this - it's so stressful. I have unfortunately BTDT - I did a CVS with DD's pregnancy, which was a twin pregnancy, and the other fetus had chromosomal abnormalities. I'm really hoping for the best for you.

[mommylamb]

No advice, just wanted to offer hugs.

[drako]

I had the CVS done with one of my pregnancies since the sequential screening indicated a problem. I would do it again if I needed to with no worries. That pregnancy ended in a second trimester miscarriage due to an rare chromosomal abnormality. The pregnancy most likely wouldn't have gone full-term and if it did it may have been still-born or die shortly after birth. My last pregancy miscarried much sooner again due to a chromosomal abnormality. So when I get pregnant again I will just have the CVS done again and not the screening due to my history. I was 35 and 36 for the pregnancies. My first pregnancy I was 33 and had absolutely no problems and a normal sequential screening. Good luck but know that if your doctor is good the risk is very low for the CVS.

[AnnieW625]

Hugs to you. I think if I was in your shoes I wouldn't do the Cvs test because you know that you will keep the baby if it has Down Syndrome.

With the baby we lost I was not offered a NT screening nor a CVS test. I was something like a 1 in 10,000 chance of having a trisomy 18 baby I later found out from the genetic counselor based on my age (31) and history of no babies with birth defects in our families. It would have made things so much easier had I had the chance to have blood work at 10-12 weeks vs. finding out at an amino at 20 weeks. After all of that I was soo happy that my insurance made the NT scan standard so I was soo happy when I my results with DD2 came back okay. Our baby had a very small chance of being born alive and I could've delivered a baby anytime and if we were lucky it would've lived a year, but in most cases it would've spent it's entire life in the NICU.

[MamaSnoo]

1:449 and you are 36?

I am 35, and just finished the second part of mine a few weeks ago. We decided to do screening because neither of us wanted an amnio without more indication than my age, but we did want to know prior to delivery if possible. I would have had either a CVS (if high risk for Tri 13 or 18) or amnio (if DS) if mine had been abnormal, more because I wanted to know, as opposed to because we would terminate (for DS).

So, that was a digression, but when they called me with the first stage results from the test, they said that my age based risk (35 yo; similar to you) for DS (not including any of the test results) was 1:250. Then, with the test results (NT and blood spot), it changed to 1:whatever. So, it sounds like your result (while they call it intermediate) is actually as good (slightly better even) than your age based risk if you never elected to have the test in the first place.

Personally, if I were you I would look at it 2 ways: 1) If I planned to terminate for any chromosomal problem, including DS, I'd have the CVS so that I could know and have the procedure earlier. 2) If I did not plan to terminate for DS, I would wait and do the second stage of the test. If the results are normal for the later part of the test, that may put your mind at ease some and you could avoid the amnio. If the second stage results were abnormal, you could choose about the amnio based on how certain you wanted to be prior to delivery. You were probably going to have the second blood draw anyway, so this plan would potentially let you avoid some extra testing, and potentially avoid invasive testing which could add risk.

I am sorry you are going through this. I hope you get some peace of mind soon.

[arivecchi]

Which test exactly did you have? Was it the USA plus? Did your OB do the testing or a genetic specialist?

I got a false positive for downs on a quad test during my 1st pregnancy. The quad test is known to be unreliable. I had a less than stellar OB back then who did not do the first trimester USA test. I went ahead and did an amnio to have certainty. The amnio was negative for downs. I just had to know so I went through with it. I ended up dropping that OB at 8 months.

For my second pregnancy, I had a fabulous OB from the start and she referred me to a genetic specialist for the first trimester screening. He did the USA plus which is about 90% effective.

Please PM me if you'd like. I know what it is like to be so nervous about all the testing.

[♥ms.pacman♥]

i can't type much now but I'e BTDT...with #2 i was told with NT scan results plus blood work, my risk of downs was 1:64. I was only 32, so it was definitely an increased risk. i was really freaked out too, as was DH. I was referred to highrisk OB for Level 2 ultrasound to check out the heart and other things...i had it done at 17weeks. with that they told me everything looked fine, but my risk was still high...about 1:100.

I decided i would live with that (i did not want to do an amnio). looked at another way, we had a 99% chance of having a healthy baby. i tried to focus on that.

DD was born without DS, perfectly healthy (other than having to be in NICU for a month for reasons related to her prematurity).

feel free to PM for anyquestions or whatever. Hugs to you. I know how stressful it is!!!

[kdeunc]

My NT results with DD were 1:46 for Down Syndrome. I was 37 at the time. We opted for the amnio at 16 weeks. She did not have Down Syndrome. I was a nervous wreck for the 4 weeks between initial testing and amnio.

My OB's office has a complictation rate of less than 1:1000 for amnio procedures so I was comfortable having it done there. My NT was done at a different practice affiliated with Duke University as my docs were not certified yet.

Your results sound better than what my "normal" results would have been for my age. Also, I think that if you want a definitive diagosis you need to do amnio or cvs. The labwork/ultrasounds done later in pregnancy are screenings too and I was told that later labwork had a much higher false positive rate.

Best of luck to you. I know how stressful this can be!

[lmh2402]

thanks, ladies

i just took the leap and officially switched doctors back to my previous OB at columbia presbyterian (nyc).

we moved out of the city to nj last year, and i was trying to make it easier on myself going to a doc here in nj

but i'm back on board with the "best of the best" even if it means a hike. and i've got an appt with my doc's "favorite" genetic counselor at CP on tues.

we'll take it from there. i'm thinking/guessing/assuming that they will have access to the new non-invasive test, though we can talk about it on tues and then i'll know for sure

i just feel better knowing that i'm headed back to a practice and a hospital i know and feel super comfortable and confident in

mamasnoo - you are right, according to the nurse who gave me my results, and the nurse i just talked with at the doc i'm switching back to, they both say my risk is that of a 32 year old, which is better than that of being of a 36 year old.

but i'm still...freaked. i'm just freaked. i couldn't sleep at all last night. i can't stop crying again today. i think meeting with a genetic counselor will help tremendously.

they've booked me back to back on tues with a meeting with the counselor and then a CVS appt with the head of MFM at columbia. the nurse said 100,000% i can meet with the counselor and if we then feel good about our risk, we can simply cancel the CVS appt without any worries and go home.

my biggest issue right now is that i feel like i'm in a hole of no-info. the practice i selected here in NJ is a highly reco'd midwife practice. but i went into it sort of blind b/c i had NO IDEA that they didn't do any testing or any sort of screening. they refer out for that.

so i went to my first appt and *all* they did was take some blood and fill out some paperwork.

i guess based on my experiences at columbia with DS, i was expecting/used to big hospital practice of everything under the sun being available right there in the same building and the docs were/are some of the best in the country.

so, i got referred for the NT scan to some other place here in NJ. they called me with my results. i tried to call my midwife to discuss, but their office is closed yest through til tues of next week. i just feel...like i'm bouncing without a home.

the fact that i could fire off an email to my previous OB and her nurse at 1am this morning, and get a phone call from them at 9am telling me not to worry, and that they have appts for me with their best people if i want them...and that they are happy to have me back for regular care...means the world to me. it calms me so much. i know that sounds insane, but i feel in good hands. like i'm not navigating it alone.

anyway, sorry for the book and again, thank you so much for the feedback and support.

[Uno-Mom]

It sounds like you made an immensely smart decision. Good for you!

I have a question and I really hope it isn't badly timed, I know this is such an emotional issue. It is for me, too, because if/when we have another baby I know I'll be well into the "high risk" age category.

But when I think about all this testing and look towards my future pregnancies...I think my perspective is different (maybe?) because I happen to have a lot of knowledge about DS. I know lots of people with DS...I know reams about medical complications, etc. I feel like that makes me both calmer about the possibility but also more freaked because some of the medical stuff is scary.

I just wonder if I would feel lots different if it was just a big unknown. I wonder if other parents have found comfort from learning about the real condition while they go through the awful testing period. When I am there (I know I will be!) I know I will turn to my adult, successful acquaintances who have DS for support and a picture of what my child might accomplish if they do have the condition. Does that make sense?

I'd like to hear what you all think so I can do a good job supporting friends irl who go through this. I'm never quite sure what to share with them...

Again, I don't mean to take this thread away from offering support or at all distract from how scary it would be to feel there's something possibly different about our child.