Genetic Screening (XP June 17)

[marshian]

I looked up old threads on this topic, but only found a few posts from about six months ago, so wanted to renew the conversation.

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's more accurate and detects more defects. Since it's newer, it's less covered by insurance (but that is not an issue for us right now financially, for which I am grateful).



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 have you done or are you planning to do, if anything? And what drove your decision?

[kleigh]

+1 to what @wineandcupcakes said. We would not have terminated based on results (no judgement) but proceeded with Verifi anyway as we thought it'd be good to know ahead of time and prepare a support system, research assistance, etc if need be. I agree that knowledge as power (since affordability isn't a concern) with the exception being if you are the type of person for who it will lead to more worry, stress, anxiety, sadness, etc to know beforehand and spend your pregnancy in doubt and sadness.

[kleigh]

Double post - sorry!

[jubilantsquirrel]

We did the NT scan this time around and 16 week blood work with my first pregnancy. I had intended to do the NT scan the first time but scheduled my appointment towards the end of the time frame and DS was too big and they couldn't get the measurements they needed. So instead I did the 16 week blood work.

We did these genetic screenings for peace of mind. I'm not high risk for anything, so I didn't feel the need for the cell free testing. If I were AMA or at risk for genetic disorders then I would have opted for the cell free testing.

[mustloveerica]

We did the NT scan and when that came back low risk we declined any further testing. We also did genetic carrier screening which was mandatory for our IVF. We learned thru that that DH is a carrier for cystic fibrosis, but I am not so it's not a great concern.

[marshian]

I'm all about knowledge being power. Plus with H being in the medical field, he feels the same way. We're definitely doing something, the question is what. Thank you for all your input so far!

[lola]

We did the NT scan and the other recommended tests for everyone like cystic fibrosis. We didn't do the cell-free testing because it wasn't recommended for us based on the other test results, not being AMA, etc. I'm glad we did what we did, because I agree that information is power. However, we also knew that the test wouldn't change our course of action (again, no judgement), so we did what was recommended but didn't seek additional testing.

[hpnegirl]

For DS1, I had the integrated serum testing and carrier testing done. Since my genetics aren't going to change, there was no need to redo the carrier screens this time around

With this one, I had a NT for nural tube defects and then the panorama test done. By doing it that way, it was easier to get the insurance to cover the blood test.

[grneyes]

Does your OB office have a genetic counselor? We met with one first and it was really helpful. She took detailed family histories for me and my H, and went over all the testing options and recommendations for us based on our situation.

I just had my NT scan yesterday, and I'm so glad I did it. It was a huge relief to know the neck measurement was normal and they could see a nasal bone. The scan lasted about 30 mins, and they checked the placenta, cervix length, various other organs for baby, the heart, and the tech even showed us both hemispheres of baby's brain. It was amazing to see baby actually looking like a human and moving around so much.

I'm also having Mat21 drawn, but skipping the old first tri blood work. Because I'm doing Mat21, I will only have AFP checked during 2nd tri blood work for any neural tube defects. I also had the Counsyl Family Prep screen done while we were ttc at my RE's office. I'm not AMA, but I have a RPL history, so I wanted all the testing.

Good luck with whatever you decide!

[bazinga]

I agree with others, knowledge is power and the decisions are very personal, especially how you might weigh up any risks (only amnio/cvs are 100%diagnostic).

I'm AMA and was when I had DS1 too. At that time the NIPT were only just coming available so we did the recommended NT scan, first and second tri bloodwork. We were shocked that despite the higher tisk of miscarriage vs. abnormsilty one of the MFMs still recommrnded an amnio. We declined...

This time we were offered the NIPT but chose to wait and see what the std tests showed before going ahead. Our first and second tri risk levels came back so low (lower than first pregnancy despite the 3.5yr gap) that we decided that was enough. For us.

Again, no guarantees but we're ok with the residual risk.

[onesweetworld]

I did the counsyl screening and was very happy. We did not do the NT scan.

Counsyl was free for me (in network). Without insurance it's $395.

[icedtea]

I feel like my OB did not give me nearly as much info as you guys got in your appointments. But I'm doing the NT scan and the Harmony test. I'm not sure if insurance will cover Harmony, but it'll only be $130 if they reject it, so we decided it was worth it. We also want All the Info.

Oh, and I did counsyl with the RE before I got pregnant. That was covered. 

[emilie]

I did both the NT scan and the NIPT testing, but I am AMA and both were recommended. I am glad I did both because I feel they do cover different things (physical markers vs. genetic markers). Neither test is completely diagnostic but since both came back as "low risk" for us we felt fine sticking with just that. If either test came back higher risk I probably would have then done a CVS for diagnostic results.

As for the Jewish thing, H is half-Ashkenazi and I am less-than-half Ashkenazi heritage. Since we both have Ashkenazi blood, at my "preconception" appointment (like 3 years ago now due to IF, ha), my OB recommended that I do the Counsyl test for a general genetic disorder panel plus a special panel that tests for Ashkenazi-specific disorders. Mine came back all negative, so we did not test H. Baby might be a carrier of something if H is, but she won't have any full-blown disorders since I am not a carrier. Since you are not Jewish I would not worry about it unless you really, really want to know if your LO has the 50% chance of being a carrier of something.

[cookswithwine9]

We did the NT scan. That is really the only option we were given since I am not AMA or have any other risk factors. The scan/blood work came back as low risk so we did not pursue further testing. I thinking having as much info as possible in an uncontrollable situation is comforting.

[marshian]

emilie - Thank you especially for your thoughts around Ashkenazi heritage. We decided to ask H's sister (once we tell her we're KU) if they did any specific testing as she had our nephew two years ago. It's good to know we would both have to be carriers as the possibility of me being one is extremely slim.

[silvermelody]

With DS we did the 1st and 2nd trimester serum screenings and the NT scan. I did not have any risk factors. DH is half Ashkenazi but the CF screen came back all clear.

He was concerned about Parkinson's, which is what killed his mother and her sisters. We spoke with the genetic counselor about that. There are no genetic screens for it, but since his dad's side doesn't have any history of it and there is no history of it on my side there is very low risk of our children getting it.

This time around I'm AMA so my insurance covered Harmony instead of the NT. Results came back clear so we did no further testing.

[wildflower810]

I work with a home birth midwife and she doesn't offer genetic screenings (as far as I know...) so that's a bit of a different situation. However, we opted to not pursue any testing or scans outside of the 20 week a/s. H and I are both young, healthy, have no family histories of anything, and would personally not terminate based on genetic results. The a/s was important to me to see all vital organs in place and etc. After birth, kiddo will have his newborn check by my midwife, and get in to see his pedi and chiro within the first few days of his life, so I'm confident that any issues would get caught by one of those three people.

[akraus2015]

Is it recommended to do genetic testing if you have a history of miscarriage?

[grneyes]

Nov 12, 2016 16:33:46 GMT -5 akraus2015 said:

Is it recommended to do genetic testing if you have a history of miscarriage?

Yes, it was recommended to us to do testing because of the RPL history.