Upset Over NT Scan/Blood work results

reg26

I everyone, I am looking for a little advice.  I am 37 years old and am a little over 13 weeks pregnant.. I had my NT scan and blood tests done last week. The actual NT scan was normal, but the nurse called yesterday and said my risk of Downs Syndrome was only 1:3000, but that my risk of Trisomy 18 or 13 was 1:7.  They recommend waiting for the level 2 ultrasound and more blood tests at 18 weeks.  Anyone told they were low risk for Downs but very high risk for the other 2?

SaintCity

i'm sorry you are going thru this.  I don't have personal experience with this, but i usually direct people over to babycenter.com message boards.  They have very active boards re" prenatal testing, poor prenatal diagnosis, amniocentesis, etc".

You may get more responses over there.  The only thing I can say it that you must be terrified, but its important to remember these are just odds.  If my math is good, you still have very good odds (85% or so) that everything is all right with your LO.  GL!  I pray your LO is just fine!

benoitfan

I am so sorry you are going through this.  That must be so hard.  Based on those numbers, I would request further testing.  I don't know if the MaterniT21 or the Verify blood tests can diagnose the other Trisomies, or just Downs.  If they do test for the other Tris, then I would request one of those blood tests.  If they don't then I would just jump right to amnio.  I know that is scarey, but I am a need to know kind of person and I would have to have a defiinitive diagnosis. 

FTR, I am 40 years old and there was a very good likelihood that my NT results would come back with a poor number, so I was prepared to do Amnio.  I had the Integrated Prenatal Screening though and it includes a 1st tri blood drawn, the NT scan and a 2nd tri blood draw at 16-18w.  You may want to ask if you can have that 2nd blood draw at 16w and go from there?  Prayers that it was just a false screen positive and remember, it is a risk, not a true diagnosis.

StaceySMC13

The MaterniT21 blood test does test for the other trisomies (18 and 13).  I was quoted that is is 99.1% accurate for Trisomy 21, >99.9% for Trisomy 18 and > 91% for Trisomy 13.  If you are comfortable with those accuracy rates then it could allow you to avoid an amnio.  However, if the test comes back positive, they are going to suggest an amnio anyway.  I did the MaterniT21 blood test because I had a 1/70 chance of delivering a baby with down syndrome.  I was not okay with the chance of miscarriage for an amnio (even though people say it's not a high risk at all).  I'd talk with your doctor or genetic counselor and discuss which test is best for you based on all of your facts and concerns.  

lhcooper

I'm so sorry you are dealing with this. I wonder if you might be able to get in for a CVS test, which I believe you can do up to 14 weeks. It's invasive, unlike the MaterniT21, but if for some reason you don't have access to the blood test, at least you wouldn't have to wait so long to know more. Risks vary with the centers it's performed at, and maybe you weren't offered it b/c they don't do it, but I would ask at the same time you ask about the blood test. As a PP said, remember that 1:7 sounds bad, but 85% chance of there being nothing wrong is still pretty good odds!

StaceySMC13

I was told you can only get the CVS test done up to 13w6d.  But most places will only do it between 11-12 weeks.  

leffe1

No, my odds were high in the downs but low in the trisomy. Can they do an amnio? That is what I had done. It was nice because once the test results came back it trumped all other testing. Just something to think about. I know how scary results can be but it is only a risk factor. Good luck!

ExcitedMum2B

I too would jump to the CVS/Amnio right now instead of waiting for more blood tests or a level 2 ultrasound. The two week wait for the results will be hard, but they will be definitive results.

Jumpin4joy

I would/did the amnio.  My odds were 1:42 but my friend's number was 1:4.  She had the amnio and paid extra for the rapid results.  They were able to find out the baby did not have either.  Her little girl was born perfectly healthy.

benniferbaby

ExcitedMum2B:

I too would jump to the CVS/Amnio right now instead of waiting for more blood tests or a level 2 ultrasound. The two week wait for the results will be hard, but they will be definitive results.

This.

Adi

I'm going to agree with the ladies that said they'd jump to the CVS/amnio. It will give you absolute answers, and is more likely to be covered by your insurance than the MaterniT21 test. While there is a risk of m/c it's less than one half a percent (if it's easier to visualize this way   <0.5%). which means that there's about a 99.5% chance that everything will be fine. (and really, if someone told you that you had a 99.5% chance of winning the lotto, would you buy a ticket?)

mrsjami

Hugs to you. At 17 weeks I was told I had 1 in 9 for trisomy 18. I was schedules for amino and found out we lost the baby moments before. I would get scheduled ASAP to ease your mind. I will pray good news is in store for you, this is a tough one. More hugs