"intermediate risk" for combined NT/blood test

[Roleysmom]

I'm so glad that you are getting great support already from your previous practice. It's great that you have the option to meet with the genetic counselor even if you decide not to do the CVS.

I had the nuchal translucency screeing (ultrasound and blood test) at age 42 so I always knew based on my age alone that my risk would come back higher, but I did not expect a 1/5 chance for Down Syndrome and a 1/23 chance for Trisomy. I had passed the window for a CVS and had to wait for the amnio. It was a horrible, horrible time. I'll cut to the chase and say that DD2 is now 27 months old and does not have Down Syndrome or other issues. She's a peanut but feisty and perfectly healthy and happy.

One of the reasons that the wait was so hard was I googled (bad, I know) and learned that the blood test done with the NTS can yield information about other adverse pregnancy outcomes beyond chromosomal adnormailities. I didn't know that. I thought that if the CVS/ammnio came back fine then everything would be fine. There's early evidence that shows the low beta-hCG, low PAPP-A, can signal risks for IUGR and other things. That threw me for a loop.

The visit with the genetic counselor before the ammnio was a very good experience. She explained what I had googled and went through the blood test results and explained why even though my risk was 1/23 it was unlikely that the baby had Trisomy. The focus really was on DS. I'm very glad that we had the amnio based on the conversation with the genetic counselor alone. The genetics department let the midwife practice know that they should be on the lookout for IUGR based on my blood test. Without that prompt from genetics, I know they wouldn't have scheduled the extra ultrasounds to screen for IUGR. Sure enough, an ultrasound at 37 weeks pointed to IUGR so I delivered that day. She did have IUGR and weighed only 4 lbs 6 oz at 37 weeks 4 days. I'm forever grateful that everyone was paying close attention.

I say this not to scare you but to confirm that it sounds like you are with a practice that will have everything covered and that the meeting with the genetic counselor will be really helpful.

[poohbear]

I personally had a CVS test for a number of reasons, and as Minnifer stated, the risk when it is done by a high risk ob is quite low - lower than .02% (most often it is a high risk dr who will perform this test). I also found it helpful to meet with the genetic counselor.

I think in the end you need to do what will give you the most piece of mind and what is best for your family. It's also important to decide why you want the information and what will you do with it? (Would you terminate? Do you just want to know what's ahead of you? Etc)

Just my 2 cents. (I realize it may not be the popular opinion on this board, but in my situation, it was the right choice for us. Luckily everything in the CVS came back with no abnormalities as did the later U/S).

[arivecchi]

Good call OP. I felt so much more comfortable switching to a great OB in the city from the one I was seeing previously in another area. There was a huge difference in the quality of care. Going to a genetic specialist instead of doing the genetic testing through an OB was key for me. Hope you have the same experience.

[marymoo86]

1:449 sounds scary but that is 0.22% chance of an issue. In other words,99.78% chance of things being normal. Always helps to look at it in those terms. Having dealt with this during my pregnancy being AMA, using percentages instead of ratios helped a great deal. We had to meet with the GC to discuss family history and results and this is how she framed it. So helpful.

[MrsZaz]

Just wanted to add my virtal hug. DS1 was 1:10 chance of Down's Syndrome. Had the amnio just to know definitively what we were dealing with. Amnio was neg. - longest wait of my life. He was born premature @32 wks 2lbs 14oz. He is now 9 and weighing in at 78lbs (and at the top of the chart for height.)

Thinking good thoughts for you and hope your appointment goes well.

Colleen

[kellij]

I recommend that you check in to getting the Materni 21 blood test. It just came out a couple of months ago and I think you have to go to a perinatologist to get it. Basically it's a new test that will probably eventually replace amnios and the cvs. They are able to abstract the fetal cells from your blood, so it only involves a blood draw on your part and it's as accurate as the other tests. The only issue that I can think of is that it's so new not all peris do it and you have to pay $250 because they aren't sure what insurance will do with it.

My perinatologist offered it to me, but we felt comfortable with our results and felt it was unnecessary.

[snowbunnies300]

With my third the triple screen came back with 1/29 for down syndrome. I really struggled with whether or not to have the amnio. I decided to have it done. My son did not have down syndrome.

For me I wanted the testing so that I could choose whether or not to change physicians and hosptials. I was going to be delivering in a small Catholic hospital with no NICU. Once I had the test results I was a peace with staying on course with our physician and hospital.

Some have said the triple screen gives a lot of false positives. I see it at it gave me a percentage. I still had 28 chances DS would not have down syndrome. I like to be informed and knowing whether or not there were complications ahead also played a factor. I didn't know the sex of my children prior to birth but I wanted to know of medical factors that could be address prior to or right after birth.

There is no right or wrong way. Do what feels right for you.

[mctlaw]

I'm late to this thread but just wanted to send you virtual hugs. I personally find this part of the pregnancy very, very nervewracking. But, it sounds like you are getting the proper support and I hope things are headed in the right direction as far as getting the proper follow up testing.

[lmh2402]

update in OP

[MamaSnoo]

I am so glad that you got the information and support you needed from the GC. It sounds like you feel a much more secure in your decision making. I hope you get good results from the upcoming bloodwork!