Asked about genetic testing at age 29

sept0305bride · October 2009

Has this happened to anyone here?

I was surprised that I was tested for cystic fibrosis standard and asked if I wanted to test for Down's Syndrome. My husband and I have no history of chromosonal or genetic disorders (Fragile X, Tay-Sachs, mental handicaps, etc.).

My husband immediately responded that he wanted to test for Down's and I agreed (even if it came out positive, we'd want to prepare ourselves).

I'm just surprised I was asked because I am in my twenties and have no history of any of this stuff.

Qmommy · October 2009

They offer the testing to everyone. Don't worry.

As far as cystic fibrosis... they asked about that because you are Caucasian and it is more common in Caucasians. I had that test done too and I'm only 27.

bells039 · October 2009

I am only 24 and I was also asked and we don't have a family history of it either. I just think it might be something they ask everyone?

georgia_peachy · October 2009

They mentioned genetic testing to us (I'm 25, soon to be 26), but I have a recessive genetic disorder and a good chunk of the white American population carries the recessive gene (so probably DH does too). If DH is a carrier we have a 50/50 shot at the baby having it too. We decided against testing it because it is not a life threatening disorder if properly monitered and I decided it wasn't worth the risks associated with testing methods. We'll have them do a test as soon as baby is born, though. We'll need to know early on if s/he needs to have his/her ferretin and hemaglobin levels monitered.

sept0305bride · October 2009

Thanks. It was really the Down's Syndrome testing that really caught me off guard. Hadn't read up on testing and really didn't expect I would be asked. But I guess its good to know...

MWoodside · October 2009

My OB office asks everyone. I'm surprised yours did CF standard b/c Insurance doesn't always cover that & my OB said it can be up to $1k.

I declined genetic testing for a few reasons. I am 29 also so not "advanced maternal age". Also, there is a very high rate of false positives & I don't want CVS or an amnio regardless so I know I'd just be focusing on it the entire pregnancy in a stressful way if I got a postive or false positive result. Finally, we have no history or choromosomal disorders either. However CF & Down's aren't necessarily genetic. I figure if my baby has a condition like that I'll just deal with it when the time comes.

JulesDiane · October 2009

If I am not mistaken, CF is not an age related thing.. it is completely genetic. If you are a carrier, and your husband is a carrier, there is a 1/4 chance or something that your baby will have CF. However, Down's Syndrome is not genetic. And the probability of having it goes up as you get older.

Qmommy · October 2009

georgia_peachy:
They mentioned genetic testing to us (I'm 25, soon to be 26), but I have a recessive genetic disorder and a good chunk of the white American population carries the recessive gene (so probably DH does too). If DH is a carrier we have a 50/50 shot at the baby having it too. We decided against testing it because it is not a life threatening disorder if properly monitered and I decided it wasn't worth the risks associated with testing methods. We'll have them do a test as soon as baby is born, though. We'll need to know early on if s/he needs to have his/her ferretin and hemaglobin levels monitered.

What testing did they want you to do?

The testing the OP is talking about is only 2 blood tests and maybe the NT Scan. There are no risks to the pregnancy for those tests. But if you're referring to the amniocentesis or the other one then you're right... there are risks to those tests.

sept0305bride · October 2009

MWoodside:
My OB office asks everyone. I'm surprised yours did CF standard b/c Insurance doesn't always cover that & my OB said it can be up to $1k.

I declined genetic testing for a few reasons. I am 29 also so not "advanced maternal age". Also, there is a very high rate of false positives & I don't want CVS or an amnio regardless so I know I'd just be focusing on it the entire pregnancy in a stressful way if I got a postive or false positive result. Finally, we have no history or choromosomal disorders either. However CF & Down's aren't necessarily genetic. I figure if my baby has a condition like that I'll just deal with it when the time comes.

I am extremely blessed to work for Harvard University and I have the school's insurance. It is very inexpensive (I only pay $85.85 a month for my health insurance coverage and that is family coverage--ie, it stays the same no matter how many kids I have). Because most of the doctors, including my OB is Harvard Medical Faculty, I suspect they do a lot of testing "just because." Its good for research purposes and being in Boston there are a lot of medical/biotech facilities.

I'm also lucky because I will give birth at Brigham & Women's which I'm told last year was number #1 in the country for OB/GYN treatment. So, I'm really lucky. If its included, I usually take them up on it.

Islandchick9 · October 2009

I am 27 and my doctor didn't even ask about testing for cystic fibrosis. He just did it. I only found out because the results came back positive for the mutation. Then, so did my husband's. CF has nothing to do with age. Before I got pregnant I had asked if I needed to see a genetic counselor because I was concerned and was told no because I was so young. A few weeks later when my doctor called with these results I was livid. I remember screaming, "The other doctor told me I was young and not to worry." and his reply was, "Well, she shouldn't have told you that."

As for Down's syndrome, my guess would be that he is just asking you about the NT scan. I believe this is offered to many, if not most, pregnant women.

mopsie · October 2009

I had to have like 15 things screened for cuz DH and I are both Ashkenazi Jews... Tay Sachs, Cystic Fibrosis, Fanconi Anemia, etc. I'm glad to have the testing done so we can prepare ourselves if necessary.

rlscheck · October 2009

I will due CF if covered by insurance. I have 3rd cousins with CF. They are far enough "out there" where I'm not too worried. But if it is free, why not?

And correct me if I am wrong, but the test for Down's only predicts the risk of it? Not if the baby 100% for sure has it? We will probably not be testing for this.

LauraLovesJon · October 2009

I'm only 21 and had a CVS. What test did they ask you to do? With the test that I did they actually look at the chromosomes so they aren't predicting a risk for it, but actually see if it has the extra chromosome.

georgia_peachy · October 2009

Qmommy:

georgia_peachy:
They mentioned genetic testing to us (I'm 25, soon to be 26), but I have a recessive genetic disorder and a good chunk of the white American population carries the recessive gene (so probably DH does too). If DH is a carrier we have a 50/50 shot at the baby having it too. We decided against testing it because it is not a life threatening disorder if properly monitered and I decided it wasn't worth the risks associated with testing methods. We'll have them do a test as soon as baby is born, though. We'll need to know early on if s/he needs to have his/her ferretin and hemaglobin levels monitered.

What testing did they want you to do?

The testing the OP is talking about is only 2 blood tests and maybe the NT Scan. There are no risks to the pregnancy for those tests. But if you're referring to the amniocentesis or the other one then you're right... there are risks to those tests.

It would have to be amnio or CVS and I'm not comfortable with the risks for a disorder that won't really change his/her life one way or the other until much later in life. They'd need the baby's DNA to see if s/he has the mutated gene. Theoretically they could test DH to see if he's a carrier, but the genetic test is expensive and not covered by our insurance. He's never taken the test because we don't believe he has the disorder, and him being a carrier would not have affected our decision to have children. Basically if the baby has it s/he will just need to watch his/her iron intake for the rest of his/her life life and if it gets too high s/he'll have to have regular phlebotomies (blood lettings)

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