Twins with abrnomal NT scan results


#1

So I wanted to start a new thread to see how many there are out there that have had an abormal NT measurement with their twin pregnancy? I had mine last week at 11 weeks and baby A’s measurement was 3.5…Trying to decide whether or not to do a CVS…the risk scares me…anyone else going through this? thanks!


#2

There is a new blood test out there from Sequenom called MaterniT21 - with 99.1% accuracy it can tell you if one of the babies has Down’s. Of course it wouldn’t be able to tell you which one has it, but if came back positive you could do an amnio.

I’m sorry you are going through mixed results. I went ahead and did this new test because I would like to avoid CVS/amnio at all costs. Good luck.


#3

If I remember correctly, you posted awhile back that your results were “borderline”, right?
We had the same problem at our 20-week ultrasound. Not only did they find fluid on his neck, but his forehead, as well. The appointment was very somber, and we ended up doing an amnio that day. I didn’t want to have to drive back there and get up the guts to do it…we wanted the information, and we wanted it ASAP as I was already 20 weeks along. They did NOT do a nuchal scan during the normal 11-14 week window, which I’m a little upset about…especially considering the fact that I, myself, have an abnormal chromosome count (I have some 45XO and 47XXX cells).
Long story short, our amnio came back normal and we had a super healthy boy in August 2010. I am so glad I did the amnio, and was able to enjoy the rest of my pregnancy. I think my chromosomal issues really made me uneasy, and this was the information I needed to feel better about the situation.
However, looking back, I was too far along for the test to really be accurate. AND, his number was borderline. I got myself into such a “tizzy” that I didn’t hold on to the fact that everything else looked fine…I convinced myself that something was horribly wrong and had a terrible few weeks.
From what I’ve read, these tests are less accurate with twins. AND, your number is borderline, anyway. If you really aren’t comfortable with the CVS, can you ask to have another ultrasound in a few weeks and see if your numbers fall within the normal range? I think you have to go with your gut and do what YOU feel is right for YOU. Some people wouldn’t dream of doing a CVS or amnio. Some people wouldn’t terminate a pregnancy either way.
Personally, if I was you, I’d want more information but would also be scared of the CVS. I would ask for another ultrasound, and if the numbers were still high, I would do the amnio. But, others might disagree.
Do what is right for YOU and I hope everything turns out okay. Try to remember that these borderline numbers don’t usually mean anything. Have they done the blood screen for you?


#4

[quote=Dragonflygirl]There is a new blood test out there from Sequenom called MaterniT21 - with 99.1% accuracy it can tell you if one of the babies has Down’s. Of course it wouldn’t be able to tell you which one has it, but if came back positive you could do an amnio.

I’m sorry you are going through mixed results. I went ahead and did this new test because I would like to avoid CVS/amnio at all costs. Good luck.[/quote]

Wow. Thank you so much for this information!! I had not heard of this. I am actually on the phone with my insurance company right now and it looks like they WILL cover this test which is a SHOCKER to me! The woman is still a little confused about what she is reading since it is so new, but she just needs a CPT code and we’ll be all set it looks like. Did you get your results back yet?

Thanks to both of you for responding, I honestly didn’t expect a response, especially so quick. I’m 12 weeks tomorrow so I’m running out of time if I do choose a CVS which I really don’t want to do.

Dragonfly: I’d love more info as far as your experience if you don’t mind :slight_smile: Nice to know I’m not alone.


#5

[quote=divibaby]Wow. Thank you so much for this information!! I had not heard of this. I am actually on the phone with my insurance company right now and it looks like they WILL cover this test which is a SHOCKER to me! The woman is still a little confused about what she is reading since it is so new, but she just needs a CPT code and we’ll be all set it looks like. Did you get your results back yet?

Thanks to both of you for responding, I honestly didn’t expect a response, especially so quick. I’m 12 weeks tomorrow so I’m running out of time if I do choose a CVS which I really don’t want to do.

Dragonfly: I’d love more info as far as your experience if you don’t mind :slight_smile: Nice to know I’m not alone.[/quote]

The test had only been out for about a month when I got the abnormal test results of a 1:125 chance of a Down’s baby. We did get the results back from the MaterniT21 test about 8 business days after they shipped off my bloodwork. The results came back with a 1:8000 chance of Down’s, which we can live with.

I really wanted to do whatever I could non-invasively to avoid doing an amnio or cvs. We’ve been through so much, I just didn’t think I could handle the risk of miscarriage with either of the tests. I felt like I needed as much information as possible - so the results of this new test relieved our anxiety. I think that as this test ramps up more and more people will take it to avoid invasive testing.

If you have any specific questions feel free to PM me.


#6

[quote=Dragonflygirl]The test had only been out for about a month when I got the abnormal test results of a 1:125 chance of a Down’s baby. We did get the results back from the MaterniT21 test about 8 business days after they shipped off my bloodwork. The results came back with a 1:8000 chance of Down’s, which we can live with.

I really wanted to do whatever I could non-invasively to avoid doing an amnio or cvs. We’ve been through so much, I just didn’t think I could handle the risk of miscarriage with either of the tests. I felt like I needed as much information as possible - so the results of this new test relieved our anxiety. I think that as this test ramps up more and more people will take it to avoid invasive testing.

If you have any specific questions feel free to PM me.[/quote]

interesting. I am going to do the test tomorrow. I’m waiting for my OB to get the request form faxed to her. However, I’m a bit dispapointed b/c from the sound of it after talking with a rep from their lab that it was a ‘yes’ or ‘no’ type of deal…not another ratio. I hate ratios.

I’m very glad things turned out okay for you. Was it just your bloodwork that came back ‘off’ or was your nuchal measurement off as well? I liked the idea of it being a clearcut ‘yes’ or ‘no’. Maybe I’ll call them back with more specifics.


#7

so I called the lab back and they said that their results do not give ratios. It will either say that the expected number of T21 cells were noted (negative result) or and ‘increased’ number of T21 cells were noted (positive results)…not numbers, ratios or percentages.

So I’m wondering why you received a ratio of 1:8000. Is the rep I’m talking with in my area not have all of her information right? She thought maybe you could’ve done another one of their prenatal tests for RHD or Cystic Fibrosis in which case you will also get a ratio back in your report. Just curious if she knows what she’s talking about.


#8

[QUOTE=divibaby]so I called the lab back and they said that their results do not give ratios. It will either say that the expected number of T21 cells were noted (negative result) or and ‘increased’ number of T21 cells were noted (positive results)…not numbers, ratios or percentages.

So I’m wondering why you received a ratio of 1:8000. Is the rep I’m talking with in my area not have all of her information right? She thought maybe you could’ve done another one of their prenatal tests for RHD or Cystic Fibrosis in which case you will also get a ratio back in your report. Just curious if she knows what she’s talking about.[/QUOTE]
It does sound like the rep is correct. My doctor hired a statistician to interpret the results of the study. Because no twins were part of the study and because it has an accuracy percentage of 99.1% he gave us the 1:8000. Unfortunately nothing is 100% accurate. It is either a negative or positive response from the test. Lots of luck tomorrow!


#9

Sorry - realized I didn’t answer your question. The NT scan was on the high side of normal - it was the boys bloodwork that was way off…


#10

Thanks again. I appreciate it. I’m torn now. My early assessment risk numbers just came back. I’m surprised because they broke it down between Twin A and Twin B. How can they do that? For twin B my risk of DS is 1:5000+ and trisomy 13/18 is 1:3000+

For Twin A (the one with the 3.5mm nuchal measurement) the risk of Downs is 1:42 and the risk of Trisomy 18/13 is 1:17.

Kind of scary. Now what makes me a little more torn now is the fact that the MaterniT21 test was developed to check for T21…and they “think” it can detect T13/18 but if that comes back negative that doesn’t mean there still isn’t a chance of the baby having T13/18. So it would still in my mind be inconclusive. I hate numbers…I hate stats (unless they work in my favor :wink: ). My husband doesn’t get this stuff at all. Just when I think he gets it he’ll throw out this really stupid comment and when I try to correct him he gets mad at me. It is very frustrating. He is against CVS and would rather have a baby with Trisomy 18/13 just to save the healthy baby than risk losing both with a CVS.


#11

[FONT=Century Gothic]Divibaby – I just wanted to add my 2 cents on the CVS test. I am a numbers person too and knew that even if my blood work and u/s came back with a good ratio, I would still worry, so I went straight to the CVS test. I was 36 when I got pregnant and my OB recommended that I not get the CVS because the m/c rate due to the CVS (.6%) was higher than the probability of having a baby with a trisomy(.4%). I decided to go ahead and meet with the genetic counselor and he told me the m/c rate at the hospital was closer to .4% (same as my trisomy rate) and a lot of those m/c were due to infection from the procedure. The doctor washed/disinfected the area 4 times before the procedure so I felt better [FONT=Wingdings][FONT=Wingdings]J[/FONT][/FONT] The procedure itself was pretty simple, took about 5 minutes, afterwards I went home and rested for the remainder of the day and was back to work the next morning. I got the test results 48 hours after the procedure and can’t tell you what a relief it was to know that all the chromosomes matched up and looked ok. They even sent me a picture of all 23 chromosomes lined up! Like others have mentioned, the decision is a personal one – I hope you get good news whatever you decide.[/FONT]


#12

DiviBaby–I just wanted to chime in with Whodey–

I opted to have the CVS and forgo all of the other guess work/stats testing. I had it done at 13 weeks and the facility where I had it done has a M/C rate of less then 1%. I did a lot of research prior to the procedure and learned that the two most important factors to consider is how carefully the facility guards against infection AND the number of procedures the Perinatologist has done. The Dr. I chose had done 15,000 procedures!

Just wanted to throw my two cents in. Good luck!

Kim


#13

[SIZE=3]I’d put in my two sents as well: It depends of what you want to do with that information. If you know NOTHING will change and you will go ahead and carry the baby full term, then don’t bother with any of the tests. However, if you know that you would not be able to cope with having a Downs Syndrome child, then I would go ahead and do CVS! I did it! My very first pregnancy ended at 20 weeks due to DS fetus and undeveloped heart. I did not want that to happen this time with my twins. So, I chose to do the earliest and most accurate test there was which was CVS. I have to admit, for my peace of mind, it was the best decision. I also found out what I was having super early in the pregnancy!

CVS does hurt, but it’s nothing you can not bare. It sucks that you have to do it twice since they’re twins, but it’s fast and you’d be glad you did it.

Best of luck!!![/SIZE]


#14

[quote=divibaby]
For Twin A (the one with the 3.5mm nuchal measurement) the risk of Downs is 1:42 and the risk of Trisomy 18/13 is 1:17.[/quote]

I wish you lots of luck with your decision today! It is so tough and completely personal. You have to do what is right for you…


#15

Good Luck with your decision. Positive thoughts that baby A is healthy.