Fragile X - CVS or Amniocentesis?

babesondabrain

Hi Everyone... I found out last week that I am a carrier for Fragile X  We had our genetic counseling appointment last week, and have decided to still try to do this naturally.  I have a ton on my mind right now, and even though we are not yet pregnant, are thinking about whether CVS or Amniocentesis is the right way to go.  We are leaning towards CVS since I can't imagine going 16 weeks and then having to possibly terminate.  However, if the risks of CVS are too high, we will go with Amnio.  Would appreciate any info / recommendations from people who have gone through either of these (for whatever reason).

If anyone lives in Los Angeles area, recommendations for doctors that specialize in high risk pregnancies would be appreciated!

skfg

Personally, I'd do the CVS. The CVS from my understanding is less invasive and was recommended by someone who had a lot of OB nursing experience. Before deciding on any procedure, ask your physician what their loss rate is, they should willingly share this info w/you. I did it to confirm down's.

PlainJane8350

I went into my first appointment with my high risk specialist requesting CVS. While I'm an intermediate carrier for Fragile X, it wasn't explained to us as something that we would have terminated due to. We did, however, have a loss due to trisomy 13 and that's why I requested CVS. The moral of my story is that my doctor advised us to let her do an ultrasound and go from there. We did the ultrasound that day, then she recommended that we do one of the genetic, cell free DNA tests. Now, I'm not sure if any of those would address Fragile X or not, so this may not be helpful information for you at all, but after getting the Materna Plus results back she didn't advise us to do any further testing.

But, yes, we wanted to do CVS because it can be done sooner than later. And, if it relates to you at all, Materna Plus can be done as early as ten weeks.

SallyNada

I'm a carrier, and with my fourth child, a little whoops, I knew I was a carrier before she was born.  Keep in mind, this happened 16 years ago.  I went with amnio, because I believe a CVS couldn't tell me the methylation (I can't remember exactly but there was something the later test could tell me that the CVS couldn't).  Turns out I was having a girl, who had a full mutation and I decided to gamble (1/3 of the females have no symptoms, 1/3 have some learning disabilities and 1/3 are as affected as some of their male counterparts).  My daughter is now 16 and has NO symptoms, she's in honors programs for math, science, history and english. I'm thankful every day for my whoops and my decision.  

Now, I'll be honest, if I would have been having a male, with a full mutation, I'm not sure I would have made the same decision. Tough spot to be in but I'm also thankful because I have two daughters and I've experienced what they may need to go through. All I know is no matter what happens, what decisions they make, I'll support them.  Personally, I think the worst decision would be not to have children at all but if that is their choice I will still support them. 

You might find this information helpful, https://fragilex.org/fragile-x-associated-disorders/carriers/reproductive-options/

Good luck! And (((hugs)))

lccomm

Hi there,

I am currently in the same position, however I am currently 11.5 weeks pregnant. I found out I was a carrier with 68 repeats before i got pregnant and was told I have a 2% chance of having a child with a full mutation. I have done 2 blood tests so far, one to determine how stable my X gene is and how likely I am to pass it on, as well as the 10 week blood test that tests for Down Syndrome, but in my case I did it more to find out the gender and hopefully use the information to decide whether I want to do a CVS, Amnio or nothing at all. I am still waiting for the gender results, but should be getting them over the next few days.

By the way, as a Fragile X Carrier, I highly recommend getting the AGG Test from Asuragen. It narrows down your chances of having an affected child. Please look into it. 

So, now I am in the predicament of whether or not to do the invasive testing. I really do not want to do a CVS as the risk of miscarriage is just too high. I wouldn't be able to handle having a miscarriage to later find out my child was unaffected and the entire thing could have been avoided. I am still considering an amnio, though, but am extremely nervous about miscarrying and also having to terminate such a late pregnancy. My husband and I have decided if it is a full mutation boy, we would terminate. If it is a girl, it is much more complicated as there are many women that have full mutations that are perfectly healthy. I guess I am looking for advice on whether to do the amnio or not at this point. I know 2% is very low, but Fragile X is an extremely complicated disorder with no guarantees. I do not have any family history of anything on either side, and I am the youngest in my family of all of my brothers and cousins. They all have happy healthy kids. Am, I crazy to do an amnio with only a 2% chance? I want to be as prepared as possible. 

Are there any other Fragile X Carriers that have been in my position that have opted for or against invasive testing? Any help would be greatly appreciated!

BSchooler

My husband and I just found out that I am a carrier with 57 repeats.  I am also in a predicament of whether or not to do more invasive testing.  It really is a touch decision.  But, I am so afraid, like you, of miscarrying.  

BabyBoyH2016

I am not a carrier of fragile x - but I did have some very concerning findings at my anatomy scan and choose to have an amino. If you are having it done by an experienced high risk OB your chance of miscarrying is very very low. It seems so scary walking into it, but having gone through it and getting peace of mind I would absolutely do it all over again. I had an amino at 19/20 weeks and I am 36 1/2 weeks now with a healthy baby boy . Good luck ladies!

GoBadgers

My friend has a premutation and I know there is a great Facebook group she is in. I'm not sure if the name.

iccom, I believe when the repeat is in the 60s there is a 2% risk of expansion IF you pass on your expanded gene (which there is a 50%chance of) resulting in a 1%risk.

How many aag interruptions did you have? Was the 2% number based in your aag results?

This reply is prob too late, hopefully you have gotten some additional information and have a plan moving forward.

lccomm

Hi there! Yes, the 2% was based on the agg repeater test. I only have 1 interruption. In the results of the 10 week blood test to determine gender, we found out we were having a girl. Had we found out it was a boy I would have most definitely had an amnio, however since it is a girl and they are less likely to show symptoms should they have a full mutation. Following my doctor's advice we decided against any invasive testing. I wouldn't have been able to live with myself if I had miscarried a healthy baby, especially since we had a difficult time conceiving. So, I am now almost 20 weeks pregnant with a little girl! My husband and I have decided to wait to find out if she is a carrier until she gets older, and just enjoy the process as much as we can even though it has been an extremely stressful pregnancy. I also plan on setting up a savings account for her that will help cover In Vitro costs should she turn out to be a carrier and want to have kids some day. We aren't sure if we plan on having more kids yet, but if we do decide to have another one we plan on using in vitro to ensure we have a fragile x-free child. We'll see! But, fingers crossed that our little girl is healthy and happy! I hold on to the fact that there's still a 50/50 chance she isn't even a carrier!

JessTy3

I had a CVS with my last pregnancy...  It really was so big deal (as long as your doctor is very experienced doing them)!

laura8586

Hi @lccomm, 

I know this is a bit late. But I just found out I am a carrier for 69 repeats. Going to see the GC today. What was the outcome in your situation? Any advise would be super helpful. Thank you  

lccomm

Hi @laura8586,
I decided to get a gender test at 10 weeks pregnant and found out I was pregnant with a girl. We decided against any invasive testing since girls are much less likely to have symptoms of fragile x. I went on to have an amazing baby girl who is now 8 months old. I pray all the time that she's not a carrier. We'll find out if she is eventually and if she is I plan on setting up a savings account for her in case she wants to do ivf one day or if she has any infertility issues. 

Now my my husband and I have the dilemma on whether to have another baby and whether to try ivf with pre-transfer genetic testing or whether to try to get pregnant naturally and do cvs testing. It's all pretty crappy but I really don't want my kids to have to go through this one day. But who knows what the situation will look like in 25-30 years.

im sorry for your diagnosis and wish you the best. If you do happen to go through with cvs let me know the outcome and how it was. Good luck!