Genetic Screening - what are you doing?

[marshian]

At my appointment today the midwife went over the genetic screening options and asked me and H to do our research and decide if/what we want to do. I know we want to do something, I just am not sure between the NT scan and cell-free testing (e.g. MaterniT21). Midwife said more people are leaning towards cell-free since it detects a higher percentage of trisomies such as Down's and T18 and also detects more things than the NT scan. It's newer, so less covered by insurance (but that is not an issue for me, thankfully). 

We're not high risk for anything based on my knowledge of my family history and H's. 

Related: H is an Ashkenazi Jew, which means he has a higher risk for passing on certain things (e.g. cystic fibrosis). Midwife said she wasn't going to push us for special testing since I am not Jewish. Anyone else in this boat? Are you testing for any markers?

What are you all planning to do, if anything?

[sabrinaml]

We opted out of all testing with our 1st and chance are pretty good we won't do any with this one either.

[teachermomtobe]

We did some genetic testing years ago before TTC because my H's brother has Fragile X syndrome. We tested him for Fragile X and me for Fragile X, cystic fibrosis, and SMA. Surprisingly the only positive result we had was I was a carrier for SMA when I have absolutely no family history of it. Fortunately H was then tested for that and is not a carrier so our chances are very small of having a child with SMA. We found the period of time between my test results and my H's to be very very stressful and we weren't even pregnant.

That being said, I'm not sure if we'll be doing any more testing because we already tested for the big 3 and we found the whole experience stressful. DH and I have to discuss this still but I don't know what we'll do. Sorry my rambling post was probably not helpful but I want people to think about how they may feel with a positive result and anticipate those conversations.

[agm04]

We did the NT scan and Panorama with DD (one of the cell-free tests). My current OB uses Verifi (same idea, different brand), and we plan to do that and the NT scan. Many of the cell-free tests will give you a much lower out of pocket price if your insurance rejects the claim, FYI. My insurance covers these (and I think that's becoming more common).

I do worry about false positives, but we'll do it.

[cheezee]

We're doing the NT scan. The blood tests aren't covered by my insurance unless AMA. I know certain markers of the major trisomies will show on the anatomy scan too so I find myself relying more on that than anything.

[starsandshamrocks123]

We are doing the NT scan mostly because they don't do a lot of ultrasounds and I don't want to wait til the Anatomy scan to see this little one. They did the CF test by accident last time (so I didn't have to pay the $$) and it was a nice to know, but wouldn't have bothered me if I didn't. But that's just me. The testing was stressful last time and I'm sure it will be this time. Having the discussion up front with DH about the "what ifs" is something that made me feel better to control the situation but DH would prefer to avoid all of those discussions.

[bewise]

We didn't do any last time and don't plan on it this time around either.

[marshian]

starsandshamrocks123 - Being a doctor, my H is all about discussing every possibility and the chances and what we would do if faced with them. It's good in that we're not putting our heads in the sand, but it can be overwhelming sometimes because he's very clinical and sometimes I need him to use his emotions. But every talk we've had so far has been easy and productive.

[sdlaura]

I'm doing both the NT scan plus blood work and the MaterniT21 (now called QNatal here). I'm 35 so the QNatal is now covered by insurance. Even if I wasn't interested in the results, I'd do the NT scan just to have an ultrasound to see baby again around 12 weeks.

marshian, as someone who had major defects in a prior pregnancy where a lot of decisions were required, in my opinion you don't need to discuss all that stuff in advance. We quickly got on the same page once we had all the info.

[starsandshamrocks123]

marshian that's intense!

[dsp2013]

marshian I did both with DD. H is Jewish as well. His sister has spina bifida and is a tay sachs carrier. So the genetic screening was important to us. If the baby had a chromosomal abnormality they could live with we wouldn't do anything, but something like tay sachs we would. I'm not a carrier for tay sachs, but I actually am a carrier for a rare disease that usually only Jewish descendants get (I'm not Jewish that I know of, but my grandmother was adopted).

This time I'm in a similar boat. We went to a genetics clinic with DD because my OB practice didn't due screenings or have a level 2 ultrasound for an NT scan. Now the practice does offer the screening and uses it instead of the level 2 NT scan. I have the option of just doing the blood test at my practice or I can go back to the genetics office. No matter what I do, I have to have additional screening for spina bifida at my later ultrasound and blood tests.

Essentially, my OB says my insurance will pay for the NT because of my age, but it really won't show anything that the blood test doesn't. It would be more for my comfort of seeing the baby.

On a plus side the blood test tells you gender super early. It was nice knowing we were having a daughter that early.

[mreve]

I also didn't do any testing last time and won't this time either. This would change if we had any risk factors, but we are comfortable with just the anatomy scan.

[lindsay]

Opting out. I didn't do it with my first either.

[iris1264]

We didn't do anything with the first 2 and won't again this time. We have no family history of any genetic issues except DH's cousin has cystic fibrosis. I have been tested for this and I am not a carrier, so no more testing needed.

[trebletrouble13]

Last time we did the blood test and the NT scan and opted out of the CF testing. We plan to do the same this time (if the new practice lets us). Neither of us has any family history of any genetic issues, but if something shows up on a test, I'd like to be prepared for the possibility.

[Run20K]

We are doing the NT scan and some bloodwork at that appointment.

We're also having an amnio. I have a chromosomal abnormality and CCRM highly recommends I have an amnio. There's a small chance that one of the babies could have a severe disability, so we'd want to have that information as soon as possible so that we could make plans and not be surprised at delivery .

The risk is very small though as we did CCS testing and we already have a healthy child.

I will be able to breathe after the amnio.

[sdlaura]

Run20K, I had an amnio during my first pregnancy after the baby's defects were discovered. It wasn't nearly as bad as I expected

[MrsEmuTavi]

First time around we had to have a bunch of blood work screening done and they tested for CF. Turns out I carry the gene for it so H had to get tested too. Luckily he isn't a carrier so we are all good there.

If they offered cell-free testing I would probably take t because it's more difinitive (but not 100%) than the NT Scan. I also plan on getting an NT scan because as far as I know I only get 2 ultrasounds, NT & anatomy.

[honda13]

Opting out. Didn't do any with dd either. We may have felt differently if we had a family history of certain diseases.

[redrock]

We didn't do any with our first and probably won't this time either.

[animaldoctor]

I have my NT scan scheduled and will do the sequential screen. I am not AMA and we don't have any family history so we are not overly concerned. I tested negative as a carrier for CF my last pregnancy. I personally need to know if we are expecting something big since it would change all of our lives.

[sdlaura]

Totally agree, animaldoctor. DH and I are very analytical people, and we definitely want as much information as possible, given that it's easily available.

[maggie6424]

I was screened for all the things I could be a carrier of with #1. Last and this time we'll have the standard blood work, nt and anatomy scan. I'm a planner/researcher by nature. So if I'm being thrown a curve ball, I want to have as much time to prepare as possible.