I am currently about 11 weeks pregnant. I usually live in NYC where my regular OB wrote out orders for several blood tests, including genetic screening for cystic fibrosis, fragile X and spinal muscular atrophy; in the US, it is standard practice to offer these tests to all women. Then, during the appointment he said just to have all my bloodwork done in Europe (where I would be all summer), because it would be easier for the doctor there to see the results directly.
I have been in Germany where the German OB said that this was not standard practice in Germany, and that he never sent patients to get these tests (apparently it requires referral to a geneticist in Germany and a lot of legal paperwork, because of strict policies on genetic testing here due to historical reasons). I'd still like to get these tests done, and will be in Switzerland in a couple of weeks, staying through the end of the summer, and I will see an OB there.
So my question is this: Does anyone know what the standard practice is for these tests in Switzerland? If I see a regular OB as soon as I arrive in CH, can I just ask the OB to order these tests, and can a lab in CH do these tests typically?
And one other question about health care generally in CH - are costs likely to be the same as in Germany, or are they likely to be much higher? I've lived in Germany and am familiar with costs there, but I have never had health care in CH before, as I am only there in the summers, and have never lived there for an extended period of time.
Thanks in advance for any help, advice, or answers!
I was pregnant twice , had pregnancy check up visits in quite a few countries and I'd never heard of this genetic screening. The only blood test I did the triple test screening ( downsyndrom + spina bifada screening) ,i know they do it in quite a few countries in Europe and I had it done in China.. But this test for cysiste fibrosis is a first for me?
Some things are a lot more available in the US, as far as I know. These tests are routine screening tests back home as well and I know there weren't here when I was preggo. I did need some extra tests done, I went home for them. The things we needed done here after our little one was born didn't seem such a big deal and the pediatrician finally cooperated, but we had to explain for quite a long time and give the official orders written from my home docs. I think if you have an OB here in Swiss, you should contact him/her and ask before you even get here. I, personally, would get things done in the US if your primary care is there and if you plan on delivering there.
I am just about to give birth and opted to have cystic fibrosis and downs syndrome tested by CVS. This was covered in under my health insurance as my due date was after my 35th birthday.
I would definitely suggest speaking to both your health insurance provider and OB here in Switzerland to find out what you are covered for. I also had a blood test for spina bifida. Again covered under my insurance.
It is not standard practice to have these tests done in Switzerland. The only test that is standard is the first trimester screening test for Down Syndrome or trisomy 18 (nuchal fold measurement plus a blood test for PAPP-A and HCG).
Cystic fibrosis, fragile X and SMN spinal muscular atrophy ALL require you to be a carrier, so there's no reason to do an invasive test like CVS or amniocentesis until you know whether or not you are, in fact, a carrier.
(for cystic fibrosis and SMA, you and the father both need to be carriers, for fragile X you need to be a carrier AND the fetus must be male or you both need to be carriers).
As for costs, an OB/GYN visit will run around 250 CHF, and blood tests will run from 200 CHF to 400 CHF or above.
I've been pregnant twice and did these genetic tests for my first pregnancy outside of Switzerland. However, my OB in Zurich told me that we can have these tests done in Switzerland as well. I think it's possible to get the blood work done in Switzerland, but I am not aware of the costs. All I can say is it is not covered by the basic insurance.
I'm quite sure you can get the tests done in Switzerland. They are not routine. Your doctor is the best one to ask, and make sure you get them to tell you whether your insurance will cover it, and what the cost will be, before you agree to testing. Do you have swiss insurance ? Where are you having your baby ?
I am assuming these tests are done on your blood and that of the father...not by amniocentesis.
If abortion is an option, then you only have a few weeks window to have these tests done, and then roll on forward to a CVS or Amniocentesis testing...and even that is a tricky decision because there is a 0.5-2% chance of miscarriage with this test...
If you need an OB/GYN in Switzerland, I can recommend mine. She's not the type that will hold your hand and nod sympathetically but she's straightforward, knowledgeable and explains things very well (in German or English). if you like, I'm seeing her next week and can ask her about the tests (PM me).
That is a bit weird, do you or your husband have a family history of these diseases? I am pretty sure they are not routine labwork in most countries...I suggest having them done in the US aas then you might not have to pay for them, Switzerland is expensive, especially if not insured
These tests are potentially detrimental to the development of the foetus. If you aren't willing to take action based on the results of these test, ie. have an abortion, then don't bother. In the average situation there is more chance of foetal damage due to the test than finding anything wrong that can be dealt with in utero.
Now if you are worried, due to prior knowledge of being a carrier, of there being problems then by all means do the tests. Just don't risk your unborn baby if you aren't willing to "use" the information.
Thank you for asking this question; it's good information to know.
Even in the States, it's not necessarily always routine to do genetic testing. In Arizona it's not (there are blood tests, but it doesn't include things like cystic fibrosis; for that you have to visit a genetic counselor, and it's not always covered by insurance). However, it is routine in Idaho.
Good luck managing your pregnancy health care duing your travels, and keep your feet up! By the end of the summer, you'll probably have to deal with swollen feet/ankles when you fly.
I agree. However, for a nervous pregnant woman, a quick blood test is worth a lot in terms of peace of mind. Also, if it does turn out that you and your partner are both carriers, there is a 25% chance that your child is affected (unless it's fragile X and you're carrying a boy, in which case it's 50%) so in these cases, an invasive test is warranted if you would choose to terminate (for these diseases, there is nothing that can be done in utero, and only CF has treatment that improves and prolongs lifespan).
-CF and SMD are both autosomal recessive diseases, this means that both father and mother can be carriers of a mutation but the offspring needs two copies to develop the disease (one from dad one from mom)
-Fragile X on the other hand is X linked dominant which means that it affects most males because they only have one copy of the X chromosome, but it can also affect women who carry two copies. One copy female carriers might not show full blown disease (gene is not 100% penetrant which means not all carriers will develop disease).
So, it would be vital if you or hubby have a family history of the disease and then it is important to see if you do carry a copy of these mutations which can be done by blood work without doing an amniocenthesis (puncture of the amniotic sac and thus risking the fetus) but really you should talk to your doctor now about how the genetic testing will be done ...
I think the OP is, in fact referring to the blood tests to determine whether or not she is a carrier, and not anything invasive at this point in the pregnancy.
IMO, even if abortion isn't an option, it can be useful to know if you're a carrier so that you know if there is a chance that you will have to face the difficulty of caring for a sick child, and can prepare yourself for the emotional, mental, and financial challenges you might be facing.
That being said, if abortion is not an option, than you have also accepted to take the child into your heart and your life "as is," and so I would agree with those saying the more invasive tests (especially if they could harm the baby) wouldn't be necessary. You can't foresee every possible deformity or disease.
It's definitely a sticky issue that each parent and couple should decide for themselves.
Exactly. My main point is that if you aren't going to do anything about it, eg. abortion, then you are wasting your time and money. Of course, the doctor makes money, if you do the tests, for the referrals. The lab and the hospital/office make money for drawing fluids (blood or amniotic) and the test work. But, unless you are a nervous nellie type, the best time to have done these tests, would have been before getting pregnant. After you get pregnant it is a bit late to do much useful with the information. The results would have to increase your comfort level a heck of a lot in order to make it worth the effort.
OK, now, these tests are not standard in CH - and you would need to see a geneticist for a consultation - which would be expensive. I would say if you want to have the tests then it's probably easiest to do it back in the US.
Now, to the people who think that genetic testing is a waste of time unless you are going to get an abortion.... well, honestly, you cannot judge this unless you have experienced what it's like to be in the situation and have a child with a genetic defect (like I have). It's not a question of abortion or being a worrier, it's about being prepared for your baby - just like you would prepare other things for the baby before they were born.
For me I wish that I could have had a test beforehand - I would never have had an abortion because the condition he has is serious, but not life threatening or debilitating. In fact nobody looking at him would know that his sight is really so bad. He manages very well and will probably even go to regular school. But that's not the point.
Had I known that my family have a history (grrr to families that don't talk about these things!) and had a simple blood test I would have known I was a carrier - and he could have been diagnosed at birth - which would have avoided such things as the worrying days at the eye hospital when they told us they thought he would go blind, and needed emergency surgery and then having to undergo a general anaesthetic to find out what was really wrong with his eyes - and he could have had therapy for his squint before he was old enough to pull the patches off. With the pre-information a lot of things could have been a lot easier.
Now, I know these conditions the OP is talking about are a lot more serious than what my son has, and people could decide to go on to an amnio and abort a fetus based on the results. But that's nobody's decision other than the mother and father.
Thanks, wattsli1, for sharing your experiences. I completely agree with you. May your little fighter recover quickly. Ignore the posts on nervous worriers and pseudo stats unrelated to specific cases. It takes one to go through the hell of misinformation, personal experiences, the long periods of waiting and grief to actually understand what the potentiality of that difficult situation might bring. I have been there, had to medically terminate and it was far from easy without sufficient support, knowing that the child would have a miserable life. I am so thankful for all the info that was there, everyone should have it. OP just simply asked whether she can have the tests done here, there is no point on trying to tell her to stuff it completely (like we have any say in it...)
The other side of the coin happened when a friend of mine was recommended to have an amnio done because of her age, the Dr did not properly inform her or her husband of the risk of miscarriage. She lost a perfectly healthy baby & was absolutley devastated as she would not have aborted had the test been positive. Every mother & father needs to weigh up the risks for themselves after getting all the information they need.
I am really sorry you had to go through that with your baby.