Home Did anyone do genetic testing before TTC?

[Lilac]

Even though DH and I are not TTC yet (and probably won''t be for a few years) he just did genetic testing. He said he would do it first because I hate needles and having blood drawn. The results came back saying he isn''t a carrier for any of the diseases they tested for. Does this mean I don''t have to get tested at all? I''m obviously going to ask my doctor also the next time I speak to her, but I was just wondering if anyone here knows the answer or has done this before.

 

[cara]

If they only test for RECESSIVE diseases then you are in the clear, because for recessive diseases you would need each you and your husband to have one bad copy of the gene (and presumably one good copy, which keeps you each disease free). Then for your child to get the disease, each of you passes on your bad copy to the child so the child has two bad copies of the gene and no good one, and thus the child has the disease while neither of his/her parents obviously have the disease. Many common genetic diseases like cystic fibrosis and Tay-Sachs work this way.

The reason to test you would be for dominant conditions that are either incompletely penetrant or appear later in life. For dominant conditions that appear early in life or are completely penetrant, presumably you would have the disease and know about it and then would have reason to worry about passing it on to your child. But sometimes a disease is dominant but does not manifest until later in life - Huntington's is an example. Other times the disease is dominant (meaning you only need one bad copy of the gene to have the disease) but does not always cause the disease, or there are wide variations in the severity of the disease such that you might not have been diagnosed with the disease yet even though you have a bad copy that puts your child at risk. Certain heart conditions are like that, or there was even someone with a concrete example posting on PS recently - I think it was polycystic kidney disease?

However, two caveats. With dominant conditions, it is harder for them to lurk unnoticed for generations. You are more likely to know a relative that has had the disease than with the recessive ones. So if you have no direct relatives that developed Huntingtons, for example, your risk of having that mutation lying in wait for you (and potentially your child) is fairly low. Though its always possible for you to have a new mutation (that started with you and was not passed to you from a parent). Second is that I can't imagine that the generic screening is exhaustive - it would be prohibitively expensive. They must have a list of conditions that they screen for, maybe allowing for your ethnic background (and that of your husband) and then selecting what are the likeliest conditions (with inexpensive tests) and testing only those.

 

[Pandora II]

Date: 7/29/2009 12:25:17 AM
Author:Lilac
Even though DH and I are not TTC yet (and probably won''t be for a few years) he just did genetic testing. He said he would do it first because I hate needles and having blood drawn. The results came back saying he isn''t a carrier for any of the diseases they tested for. Does this mean I don''t have to get tested at all? I''m obviously going to ask my doctor also the next time I speak to her, but I was just wondering if anyone here knows the answer or has done this before.

I had a number of appointments with the genetics department:

My husband has hereditary spherocytosis which is a dominant condition and so our daughter has a 50% chance of having it. We needed to arrange for cord-blood testing at birth and the neonatal unit were alerted in case of problems (you can have extremely severe neonatal jaundice). The initial test result was negative and she had no jaundice, so they are cautiously optimistic but has to be retested in 6 months time.

I have bipolar disorder and had Severs disease - both of which have genetic links. DH''s father also has bipolar disorder and so the risk is increased again. My mother also has MS, which may or may not have a genetic link. However none of these can be tested for.

My family did have a strong history of Huntington''s which fortunately died out with my grandfather''s generation - although we didn''t know for certain until after some of my generation were born (genetic testing wasn''t available in the early 70''s and you don''t develop symptoms till later in life).

We were offered screening for Tays-Sachs as my husband is jewish, but since it is a recessive condition we opted not to test as it was extremely improbable that I would be a carrier.

I didn''t have any tests at all and neither did my husband - we just looked at risk scenarios and discussed what could and couldn''t be tested for.

If you are only worried about recessive conditions then you probably don''t need to be tested, and you would likely be aware of any dominant conditions in your family already.


I hate to say this, but getting pregnant involves a lot of having blood drawn I''m afraid.

 

[Hudson_Hawk]

Personally, if I have a valid reason for the testing and my ins will cover it, I'd do it just to know what I'm a carrier for. I know for a fact that I have some genetic conditions that are present in my family for which we'll need testing for. In fact, I have my pre-TTC doctors appointment in August where I plan to discuss all of this.

I'd also like to add that having this information down the road can benefit your children by providing additional detailed information about their (and your) medical history.

 

[MustangGal]

We didn''t, but neither of our families really have any genetic diseases. DH''s side has a bit one of, but he was tested years ago and doesn''t have it. It''s also comepletely treatable now, so that wouldn''t be an issue.

If your families have something your worried about, then it''s probably worth having it done.

 

[Lilac]

My family has told me a few of my aunts and cousins have tested positive as carriers for one of the diseases (none of them have the disease, but they are carriers.) That leads me to believe I have a chance of being a carrier too - but DH is not (we know this from the tests he has done.)

I''m just trying to decide if it''s worth it to get tested for the same ones DH was tested for even though we already know he isn''t a carrier for any of them. I get very dizzy when they take blood (and this is like 22 vials of blood) but maybe it''s worth it if there''s a real reason for knowing? I would do it if I had to, I just can''t decide if there''s a real benefit in knowing now that we know DH isn''t a carrier for any of them.

 

[cara]

Lilac, did my first post make sense? I'll try again.

If they are testing for RECESSIVE diseases, then you do not need to be tested as, if your husband is not a carrier, then it doesn't matter what your status is, your child will not have the disease. If you happen to be a carrier, then your child may be a carrier, but that's it. For recessive disease, you need two bad copies of the gene to show the disease symptoms so your husbands good copy that he will pass on will be enough to spare your child from the illness.

If they are testing for DOMINANT diseases, then yes, there is the potential that you could have a genetic trait that causes disease that you could pass on to your child who could then have the disease. Dominant genetic diseases are those were only one bad copy is needed to cause disease. Thus if you had a dominant genetic disease, you could pass it on to your child and it wouldn't matter what your husband passed on - one good copy of a gene is not enough to save someone from having a dominant disease.

However, you having a dominant genetic disease is less likely to be a concern for several reasons: 1) if the disease manifests itself at a young age, why haven't you had symptons of it and been diagnosed? 2) if it manifests at an older age, why haven't you had older relatives diagnosed with it?

Dominant diseases are caused by having just one bad copy of a gene, thus they do not lurk unnoticed for generations in a family tree only to appear when someone else makes an unfortunate marriage choice. The only real risks of you having a dominant genetic disease are for those diseases that either manifest later in life, or for those that have variability in their severity and onset or are otherwise difficult to detect. In that case, you might actually have a bad gene of a dominant disease but for some reason not noticed it yet. You could pass this on to your child, and they might not be so lucky.

There are diseases like that out there - my husband works on one of them. Its a genetic heart disease, it is dominant, and it is often diagnosed for the first time in adults of various ages when they drop dead suddenly or survive a scary heart incident. Sometimes there is a family history of the disease and the person was just never tested, sometimes there is no family history of the disease but rather clues like "my mother dropped dead of a 'heart attack' at age 38", and sometimes there are no clues in the family history. However, this disease like many others is not regularly tested for in generic screening which brings me to the final point:

It is impossible to tell you whether or not you should be tested without knowing what diseases they test for, as they most certainly do not test for all known genetic diseases. Get a list of the diseases that your husband was tested for and then you can make a better decision.

 

[Lilac]

Date: 7/29/2009 12:35:18 PM
Author: cara
Lilac, did my first post make sense? I''ll try again.

If they are testing for RECESSIVE diseases, then you do not need to be tested as, if your husband is not a carrier, then it doesn''t matter what your status is, your child will not have the disease. If you happen to be a carrier, then your child may be a carrier, but that''s it. For recessive disease, you need two bad copies of the gene to show the disease symptoms so your husbands good copy that he will pass on will be enough to spare your child from the illness.

If they are testing for DOMINANT diseases, then yes, there is the potential that you could have a genetic trait that causes disease that you could pass on to your child who could then have the disease. Dominant genetic diseases are those were only one bad copy is needed to cause disease. Thus if you had a dominant genetic disease, you could pass it on to your child and it wouldn''t matter what your husband passed on - one good copy of a gene is not enough to save someone from having a dominant disease.

However, you having a dominant genetic disease is less likely to be a concern for several reasons: 1) if the disease manifests itself at a young age, why haven''t you had symptons of it and been diagnosed? 2) if it manifests at an older age, why haven''t you had older relatives diagnosed with it?

Dominant diseases are caused by having just one bad copy of a gene, thus they do not lurk unnoticed for generations in a family tree only to appear when someone else makes an unfortunate marriage choice. The only real risks of you having a dominant genetic disease are for those diseases that either manifest later in life, or for those that have variability in their severity and onset or are otherwise difficult to detect. In that case, you might actually have a bad gene of a dominant disease but for some reason not noticed it yet. You could pass this on to your child, and they might not be so lucky.

There are diseases like that out there - my husband works on one of them. Its a genetic heart disease, it is dominant, and it is often diagnosed for the first time in adults of various ages when they drop dead suddenly or have survive a scary heart incident. Sometimes there is a family history of the disease and the person was just never tested, sometimes there is no family history of the disease but rather clues like my mother dropped dead of a ''heart attack'' at age 38, and sometimes there are no clues in the family history. However, this disease like many others is not regularly tested for in generic screening which brings me to the final point:

It is impossible to tell you whether or not you should be tested without knowing what diseases they test for, as they most certainly do not test for all known genetic diseases. Get a list of the diseases that your husband was tested for and then you can make a better decision.

Thanks for the response (both times

) - Now I understand what you''re saying about the dominant vs. recessive diseases.

I got the paperwork from the blood tests and I see they tested for Bloom Syndrome, Fanconi Anemia, Canavan Disease, Gaucher Disease (which is the one that some of my family members are carriers for), Cystic Fibrosis, Niemann-Pick Disease, Tay-Sachs, Mucolipidosis, Familial Dysautonomia, GSD Ia, MSUD.

I''m not even sure what all of those are (particularly the last 2) but that''s what the paperwork says.

 

[cara]

Bloom Syndrome - recessive
Fanconi Anemia - usually standard recessive (12 known genes), with one gene being X-linked recessive.
Canavan Disease - recessive
Gaucher Disease (which is the one that some of my family members are carriers for) - recessive
Cystic Fibrosis - recessive
Niemann-Pick Disease - recessive
Tay-Sachs - recessive
Mucolipidosis - recessive
Familial Dysautonomia - recessive
GSD Ia (Glycogen storage disease type I)- recessive
MSUD (Maple syrup urine disease) - recessive

OK, these are recessive diseases. Makes sense cause most of them are bad, bad stuff that kills people young so they need to be recessive to endure in the population through non-diseased carriers.

I got this info through wikipedia, I am not a doctor nor genetic counselor nor even a biologist, so with those caveats, the only one these that has a chance of affecting your child and being picked up by having you tested is the X-linked variant of Fanconi Anemia. X-linked means the gene in question is on the X-chromosome. This disease is recessive but when its on the X-chromosome, boys are vulnerable to it with only one bad copy. You (being female) have two X-chromosomes. If you happened to have a bad copy of this gene on one of your X-chromosomes and a good copy on the other, you would be a carrier only and not have the disease (usually, sometimes funny things happen to the Xs in women too). However, if you passed your bad copy on to a SON, he would have the disease because his father would give him a Y-chromosome that has no copy of the gene. If you gave your bad copy to a daughter, she would presumably be a healthy carrier like you as she got a good copy of the gene on the X-chromosome from her father. Wikipedia says it is found in all ethnicities, but with higher prevalence in Ashkenazi Jews, South African Afrikaaners, sub-Saharan Blacks, and Spanish Gypsies.

So... from this list of diseases, there is this one possible gene that might be a concern. They might not even test for the X-linked gene that causes Fanconi Anemia, as there are 12 other standard recessive genes that cause the disease and your list doesn't specify if they test for ALL known genes of a particular disease or even all possible mutations of a given gene. And they likely don't - CF has hundreds of known mutations and they probably only test for the most common ones. Economics has to enter into this somewhere.

Good luck with your decision and certainly discuss your concerns with your doctor. Especially ask questions if you don't understand why s/he is recommending what they recommend, though it may help to do a little online reading about genetic testing before you go in so you are not overwhelmed. But looking at this list, and knowing your hubby is not a carrier, basically there are really long odds that you would learn any information from getting yourself tested that would change how you would go about conceiving...

 

[Lilac]

Thanks for everyone for the responses.

cara - thanks especially to you for the very detailed responses and help. I have a better understanding of some of it now, and I have a feeling my doctor will probably also say not to test now that we know my husband is not a carrier for any of the diseases they tested for. We''re Ashkenazi Jews so I guess there''s a higher prevalence of some of these for us which is one of the reasons why we wanted to test in the first place. I will call my doctor to discuss this next week, but I really appreciate all your help and insight into this.

 

[swimmer]

Date: 7/29/2009 6:27:19 PM
Author: Lilac
Thanks for everyone for the responses.


cara - thanks especially to you for the very detailed responses and help. I have a better understanding of some of it now, and I have a feeling my doctor will probably also say not to test now that we know my husband is not a carrier for any of the diseases they tested for. We''re Ashkenazi Jews so I guess there''s a higher prevalence of some of these for us which is one of the reasons why we wanted to test in the first place. I will call my doctor to discuss this next week, but I really appreciate all your help and insight into this.

Hi Lilac,
I had the Ashkenazi panel done, just wanted to let you know it is only four vials of blood. Then because some came back positive, there were a few more and then DH went in for some as well. Your DH is very sweet to take the tests first! I do hate to say it, but the blood panel was the least blood drawn of any of my ttc visits. The last one was 17 vials and the techs told me that 19 was their record draw. Just so you know, the panel will not require that much blood drawn, but down the road you might have to do more in order to get your baby. I used to not feel at all ok when having blood drawn, but it now is just whatever. You will get there too! Good luck!

 

[Sharon101]

First, Pandora and everyone getting/ needing or even not having tests, I hope you all go on to have healthy children with no problems! And thanks for sharing in this very informative thread.

Our family has a bowel cancer gene that I didnt know about when I got pg. My Mum got tested lately and she is in the clear. I gues that means the gene was not passed down to her kids. She was in a huge study so every test was done for free. Unfortunately her sister has the gene but her kids dont want to be tested. They choose to manage themselves with regular colonoscopies, which is pretty much all you can do anyway. They have all gone on to have kids but no testing for anyone.

Lastly, just want to point out that with needles.....stuff coming out (blood) is so less painful than stuff going in!!!!! Remember to relax and look away!!!! For extreem worry warts you can put on a local anastetic to numb the spot.

 

[Lilac]

Date: 7/30/2009 8:56:00 AM
Author: swimmer

Date: 7/29/2009 6:27:19 PM

Author: Lilac

Thanks for everyone for the responses.

cara - thanks especially to you for the very detailed responses and help. I have a better understanding of some of it now, and I have a feeling my doctor will probably also say not to test now that we know my husband is not a carrier for any of the diseases they tested for. We''re Ashkenazi Jews so I guess there''s a higher prevalence of some of these for us which is one of the reasons why we wanted to test in the first place. I will call my doctor to discuss this next week, but I really appreciate all your help and insight into this.

Hi Lilac,

I had the Ashkenazi panel done, just wanted to let you know it is only four vials of blood. Then because some came back positive, there were a few more and then DH went in for some as well. Your DH is very sweet to take the tests first! I do hate to say it, but the blood panel was the least blood drawn of any of my ttc visits. The last one was 17 vials and the techs told me that 19 was their record draw. Just so you know, the panel will not require that much blood drawn, but down the road you might have to do more in order to get your baby. I used to not feel at all ok when having blood drawn, but it now is just whatever. You will get there too! Good luck!

Swimmer - thanks for that information! Normally I''m fine with getting blood drawn - I''ve had 7 or 8 vials of blood taken and I''ve been fine. It''s not even the needles necessarily that are the problem because when I look away I don''t feel so affected by them. It was the fact that our doctors said it was about 20 or 21 vials of blood they would have to take - my husband saw the look on my face and knew just having that AMOUNT of blood drawn would probably make me dizzy and nauseous so he offered to go first. And they actually DID take about 20 vials of blood from him for the genetic testing. If my doctor now tells me to go for some of the tests (but not as many as he had) I would be perfectly fine with it as long as it''s not as many vials as he had to have taken!!

 

[Hudson_Hawk]

Lilac, just make sure you eat something before you go for the test (unless you''re specifically told to fast) and bring some OJ and crackers to drink/eat right after. That will help a lot with your nausea and dizziness.

 

[swimmer]

Date: 7/30/2009 11:08:26 AM
Author: Lilac

Date: 7/30/2009 8:56:00 AM

Author: swimmer

Date: 7/29/2009 6:27:19 PM


Author: Lilac


Thanks for everyone for the responses.


cara - thanks especially to you for the very detailed responses and help. I have a better understanding of some of it now, and I have a feeling my doctor will probably also say not to test now that we know my husband is not a carrier for any of the diseases they tested for. We're Ashkenazi Jews so I guess there's a higher prevalence of some of these for us which is one of the reasons why we wanted to test in the first place. I will call my doctor to discuss this next week, but I really appreciate all your help and insight into this.

Hi Lilac,


I had the Ashkenazi panel done, just wanted to let you know it is only four vials of blood. Then because some came back positive, there were a few more and then DH went in for some as well. Your DH is very sweet to take the tests first! I do hate to say it, but the blood panel was the least blood drawn of any of my ttc visits. The last one was 17 vials and the techs told me that 19 was their record draw. Just so you know, the panel will not require that much blood drawn, but down the road you might have to do more in order to get your baby. I used to not feel at all ok when having blood drawn, but it now is just whatever. You will get there too! Good luck!

Swimmer - thanks for that information! Normally I'm fine with getting blood drawn - I've had 7 or 8 vials of blood taken and I've been fine. It's not even the needles necessarily that are the problem because when I look away I don't feel so affected by them. It was the fact that our doctors said it was about 20 or 21 vials of blood they would have to take - my husband saw the look on my face and knew just having that AMOUNT of blood drawn would probably make me dizzy and nauseous so he offered to go first. And they actually DID take about 20 vials of blood from him for the genetic testing. If my doctor now tells me to go for some of the tests (but not as many as he had) I would be perfectly fine with it as long as it's not as many vials as he had to have taken!!

Wow, that is just insane! I had the entire panel that your DH did, plus pages of my hormone levels, ovarian reserve, glucose, cholesterol, oh and I don't have Syphilis, Chlamydia, or Gonorrhea, (which I could have told them!) which they need to test for IVF. And it was exactly four vials. The results say that they used Quest Diagnostics, perhaps it depends on where the tests get sent? Perhaps you could ask if they can draw less blood and run the tests on the same sample?

 

[CNOS128]

Date: 7/30/2009 5:44:31 PM
Author: swimmer

Wow, that is just insane! I had the entire panel that your DH did, plus pages of my hormone levels, ovarian reserve, glucose, cholesterol, oh and I don''t have Syphilis, Chlamydia, or Gonorrhea, (which I could have told them!) which they need to test for IVF. And it was exactly four vials. The results say that they used Quest Diagnostics, perhaps it depends on where the tests get sent? Perhaps you could ask if they can draw less blood and run the tests on the same sample?

At my last regular appointment my gyn told me to come by for genetic testing when we were ready to start trying to conceive (we''re both Ashkenazi Jews) -- she said they''d need 4 vials of blood. I wonder why they needed so many from your DH, Lilac!

 

[cara]

Wow! They are probably using one vial for each test, which might be a gross excess but for whatever reason they don't want to make a more efficient usage of your blood. I had two vials taken for two simple blood tests (Pretty big vials - much more than I imagine one would need for a standard simple test), came home and asked my doctor hubby if they really needed that much, and if not what they did with it, and he said they didn't actually need that much but it was just easier for them to take one vial for each test, and that they usually just threw away any excess after doing the test b/c of the difficulty in using it for any other purpose. (He'd actually like to be able to use people's leftover blood for various research purposes, unhitched from their identity, but its not an option with current methods of getting consent from people and ethics guidelines.)