Carrier Screening

satuttle1014

When I was at my annual exam my doctor asked when I was going off the pill to start TTC. At the time I didn't know exactly when, I stopped my pill last week. My doctor gave me a pamphlet about carrier screening for inherited genetic disorders, of course it is optional but I didn't know if anybody on here has done it or decided against it? I understand to do it so I could see if I was a carrier or my husband is but also I'm omg what if they do find something, then what do I do? This kind of test was not always around so tons of couples survived without it. Just wanted to know thoughts. 

jnnfrrose6

We chose not to do it. We have had no family history of anything that we would want to screen for, but that's a decision you need to make with your partner.

peppers1227

I know one of the things they screen for is cystic fibrosis, which is an uncurable disease and most with it die as young children. I would not want to put a child through such a painful life so I plan on screening for it before pregnancy. That way if we find out we are both carriers we can at least be prepared and explore options. I don't know what else they commonly screen for though.

PennyFozzie

They'll most likely test you first. If they find that you are a carrier of any of the (I believe 200+ or so) mutations, they will then request to test your husband. If one of you is a carrier, it's fine. If both of you are a carrier of the SAME mutation there's something like a 1 in 4 chance the baby could be born with the that disease. 

The chances of you and your husband both being carriers of the same mutation is usually pretty low. I agree with ^peppers, best to be prepared...

If cost is a concern, we went with Counsyl and it ended up costing us only $99 (we thankfully only had to test me). For the piece of mind, I call it money well spent.

penelope4612

We did this and are still waiting for our results.  The screening was covered by our insurance for certain populations (ie, there is a panel that the insurance will pay for if you are Ashkenazi Jewish since there is a higher rate of a number of genetic mutations in the Ashkenazi Jewish population).  When we went to the genetics appointment (the only way we could get the testing around here) they also encouraged us to screen for 4 other "common" genetic diseases, which I believe included cystic fibrosis and fragile X.  

If you and your SO both come back positive for a certain mutation, then they can try to screen the baby once you find out you are pregnant, or you can go through IVF with embryo selection (which I believe is very expensive).  

Also, of note, the genetic testing only tests for the most common mutations, not ALL the mutations, so you are not completely without risk if the testing comes back normal.

jnnfrrose6

penelope4612 said:

We did this and are still waiting for our results.  The screening was covered by our insurance for certain populations (ie, there is a panel that the insurance will pay for if you are Ashkenazi Jewish since there is a higher rate of a number of genetic mutations in the Ashkenazi Jewish population).  When we went to the genetics appointment (the only way we could get the testing around here) they also encouraged us to screen for 4 other "common" genetic diseases, which I believe included cystic fibrosis and fragile X.  

If you and your SO both come back positive for a certain mutation, then they can try to screen the baby once you find out you are pregnant, or you can go through IVF with embryo selection (which I believe is very expensive).  

Also, of note, the genetic testing only tests for the most common mutations, not ALL the mutations, so you are not completely without risk if the testing comes back normal.

Side note, my BFF's cousin is a huge advocate/spokesperson for the Ashkenazi specific screening. His daughter was born with one of the mutations that could have been caught with screening about 10 years ago and now he travels all over educating and advocating for the screening.

Designermomma

These screenings were not offered to me before I had my 2 kids (6 and 1yr old now). Me and my husband are very genetically diverse luckily. My sister recently had a baby and had the cystic fibrosis screening after becoming prego and found she was a carrier. Her DH was tested and he is not thankfully! So scary. The disease sounds horrible and I didn't even think about or know about screenings for it. I suppose I'm a carrier too but my hubby isn't. I would definitely do the screening if insurance covered it and it it was affordable.

satuttle1014

Thanks ladies for your advice. I will have to look into pricing and see if insurance covers it. My mom had my siblings and I (3 of us) and my sister has 2 girls and they have nothing. I haven't been told of anything in our family and my husband has nothing that he knows of. So hopefully it will be alright and I will be the only that needs to be tested hopefully. It will be good to know but also I'm a little nervous they will find something. 

I am familiar with cystic fibrosis, my high school does a fundraiser every year for it since we had students who passed away from it back in the 70's.

Twinkie0612

peppers1227 said:

I know one of the things they screen for is cystic fibrosis, which is an uncurable disease and most with it die as young children. I would not want to put a child through such a painful life so I plan on screening for it before pregnancy. That way if we find out we are both carriers we can at least be prepared and explore options. I don't know what else they commonly screen for though.

Actually with advances in medical treatment, CF is actually not the death sentence it used to be.  It is still a serious illness that can shorten a person's lifespan and seriously affect quality of life.

One thing to consider when deciding on screening, is your risk factor and the cost of screening.  Many insurance companies won't cover screenings for people TTC unless there is family history or some other risk factor.  Screenings can cost thousands of dollars if you are stuck paying OOP.

I did CF screening with the first RE (Reproductive Endocrinologist ie infertility specialist) I saw.  They offered a special rate on CF screening through a lab.  The most I would have to pay OOP was around $20 if my insurance denied the claim.  Caucasians have the highest rate of CF, but with no family history of the disease the odds of being a carrier were around 3%.  I was shocked when my testing showed I was a carrier.  We had switched doctors at that point, so my new RE ordered testing for my husband.  Of course the insurance denied the claim and we were sent a bill for $1700 (that is just for CF screening only).  Luckily we got it covered on appeal and were refunded  much of the cost.  Fortunately my husband is not a carrier, so we would only have children that are carriers or uneffected children.  If he had been a carrier we would have started IF treatments with IVF w/PGD (genetic testing on the embryos) to look for embryos that were not affected by CF. 

peppers1227

Twinkie0612 said:

peppers1227 said:

I know one of the things they screen for is cystic fibrosis, which is an uncurable disease and most with it die as young children. I would not want to put a child through such a painful life so I plan on screening for it before pregnancy. That way if we find out we are both carriers we can at least be prepared and explore options. I don't know what else they commonly screen for though.

Actually with advances in medical treatment, CF is actually not the death sentence it used to be.  It is still a serious illness that can shorten a person's lifespan and seriously affect quality of life.

One thing to consider when deciding on screening, is your risk factor and the cost of screening.  Many insurance companies won't cover screenings for people TTC unless there is family history or some other risk factor.  Screenings can cost thousands of dollars if you are stuck paying OOP.

I did CF screening with the first RE (Reproductive Endocrinologist ie infertility specialist) I saw.  They offered a special rate on CF screening through a lab.  The most I would have to pay OOP was around $20 if my insurance denied the claim.  Caucasians have the highest rate of CF, but with no family history of the disease the odds of being a carrier were around 3%.  I was shocked when my testing showed I was a carrier.  We had switched doctors at that point, so my new RE ordered testing for my husband.  Of course the insurance denied the claim and we were sent a bill for $1700 (that is just for CF screening only).  Luckily we got it covered on appeal and were refunded  much of the cost.  Fortunately my husband is not a carrier, so we would only have children that are carriers or uneffected children.  If he had been a carrier we would have started IF treatments with IVF w/PGD (genetic testing on the embryos) to look for embryos that were not affected by CF. 

This is great info! Thanks for the details. My doctor recommended the screening but we have no family history that I am aware of so if it not covered by insurance then I most likely won't be doing it.

From reading responses on here I am realizing I need to call and ask if my insurance considers a preconception visit to be preventative or not, which may change my mind about doing it since they only cover preventative until I hit my deductible. Good thing is my annual is coming up next month so at the minimum I am hoping they can do blood draw etc and talk about other things then and maybe skip the preconception if it is not covered.

colella6

Wow, I am really glad I got the chance to read this post. My sister is affected by CF and I am not, though my parents were (obviously) both carriers. My husband and I are TTC and just finished talking about the genetic testing. I am waiting to see if my insurance covers it or not pre-conception (hopefully so since there is a legitimate reason with my family history), and we are going to see if I am a carrier for CF or not. It's something that been weighing on me heavily ever since we started talking about having kids and seeing that it is a regular screening makes me feel more confident in the reliability of the results and certainty that we will be able to make sure that we are unaffected by CF. I see how my sister lives with her CF and it is super challenging. I have been a hot mess lately trying to level with myself if my test came back as being a carrier, but to see everyone else's experiences with genetic screenings and alternatives if they are positive makes me feel a lot less crazy Thanks

lch0708

My husband and I are in the process of getting screened. He had to get his blood drawn twice because the lab messed up and didn't send in the fist sample within the 24 hr time period for something they screened for. This was a couple of months ago and all we know for sure is that he is not a CF carrier (my sister is) but still aren't sure about my results. Our insurance covered it because my sister is a documented CF carrier but we had to ask her to track down her medical records to prove a need for the test. I'm thankful for this inexpensive health care (tricare) that is usually pretty good but snafus like this happen all the time. If you do go through with it, be prepared to ask any family members with genetic mutations to send in their paperwork, if required. We also had to ask DH's sister for her docs since she has Turner's Mosaic Syndrome but haven't hear back from the genetics counselor, as previously mentioned. I'm planning to call her this week to follow up and make sure we don't have to go back to the base to get blood drawn again.