Anyone do any pre-natal genetic testing?

[ejs]

DH and I are still deciding if we want to TTC. OB has suggested we meet with a genetic counselor because DH is of Eastern European descent and we both have some medical issues in our families.

Did you go through genetic testing pre-TTC? What was your experience?

[Happy1]

I would definitely recommend it if you both have histories and there's even a remote chance of something showing up. We didn't before we got pg but we did afterwards and it was really helpful! It'll be so much better for you to know things before going into the pregnancy.

Nikki :D

[spps]

DH and I actually did genetic testing before we got married, in 2001, as we are both of Eastern European descent. Then when we found out we were expecting, we had 3 additional tests done that were not available in 2001. The procedure itself is pretty routine, it just requires them to draw blood. The program that we went through in 2001 offered a group counseling session before testing, and then individual counseling after if any of the results came back that we were both carriers. Let me know if you want more info on the subject.

[albuquerque]

When I told my OB/GYN that I wanted to TTC, she went ahead and gave me the battery of standard blood tests that they run either when you tell them you're TTC or later, when you're PG. I learned two things--I'm a cystic fibrosis carrier, and I wasn't immune to German measles (rubella). I was very surprised by both these things--there is no CF in our family and I'd had the standard MMR (measles, mumps, rubella) vaccination. I learned that something like one in 24 people is a CF carrier, and that for some reason the rubella vaccination doesn't always take the first time.

So, I needed to get DH tested for CF carrier status, and I needed another MMR. The OB/GYN didn't do either, and told me to do this with my primary care practitioner. DH was leaving the country for a year to do mandatory military service in his country (Greece, where we live now), and I was naively hoping to get pg in the 2.5 months before he left (it would shorten his service and I was beyond impatient to get pg). The stupid doctor I had for a primary care practitioner didn't want to just give me the MMR because I'd only been there once, 2 years earlier, for a UTI, and she felt she didn't know enough about my health or history to give me a standard freaking vaccination. I had to schedule a full physical first, which was performed by her nurse practitioner, who told me afterwards that I was disgustingly healthy and it was a waste of time and money for me to have had that physical (since I'd been going routinely for OB/GYN exams). Just after the nurse pulled the needle out of my arm after the MMR, she said I had to wait 3 months to TTC, which was soooo disappointing to me--it actually meant waiting a year and 3 months since I wouldn't be on the same continent as DH (turned into a year and 6 months before I could sell our apt and get organized to come over here).

The second thing that was frustrating was getting DH tested for the CF gene. The same stupid PCP didn't want to do it, DH had never been for a physical either, they didn't know anything about him, and they weren't genetic counselors. She wanted to refer me to some genetic counseling specialist at St. Luke's Roosevelt. I had a HUGE fight with this stupid woman--I NEEDED this stupid simple blood test done before he left the country, just a stupid blood draw to be sent to the same basic lab as for everything else, and I didn't want genetic counseling unless he tested positive for carrier status, also. I tried to explain this to her, as well as the circumstances with him leaving the country, etc., and she sat across her desk from me and told me I was young and she saw no reason why I needed to be in such a rush to TTC. With pictures her kids had drawn taped on the wall behind her. I was SO angry. First of all, I was 31, and it was clear at that point that I wouldn't be able to START to TTC until I was nearly 33 since DH and I had to spend that year separated. That isn't THAT young, and who the h3ll was she to give me the "calm down you're young" speech? She should decide when was an appropriate time for me to TTC and when I should begin to stress about it? All just because she wasn't willing to take a freaking blood sample from my DH and send it to a lab, which is EXACTLY the same freaking thing that the genetic counseling office at SLR would have to initially do (after no doubt an insane wait to get an appointment at such a place)?

Finally she agreed to have the bloodtest done in her office. He tested negative (thank God). My stupid mandatory physical results came back saying I was healthy in every possible way, which I already knew, but whatever. They did confirm that I was, at that point, immune to rubella. Do you know what's weird? When I did get pregnant (after not toooo many very stressful months of TTC) and they did the initial pregnancy bloodwork here in Greece, guess what, no immunity to rubella. Bizarre. It's a minor disease for an adult, but can be very damaging or fatal to a fetus, so I have to just hope that I don't get exposed to it during my pregnancy and then try again with yet another MMR after I deliver.

I would go ahead and do the genetic counseling, because it is scary to test positive for something when you aren't expecting it, and if it happens to you it is best to know certainly before you're pregnant and ideally with lots of time to think about it and deal with it so that you know what your situation and options are. Probably this is especially true if you have family histories that worry you a bit. Also, if you decide to do it, get on with it ASAP, because a simple bloodtest can lead to a web of appointments and dr office hassles, as I learned.

[kimthebride]

We did it, and though it opens some scary doors...I am very glad we did.
My 1/2 brother carries a genetic disorder that his wife also carries, this there is a 1 in 4 chance each of the kids they have will die before age 2 (they lost their 2nd child to this, which is the only way they found out about it).

So we went through the whole battary and then some. Having the information is very good, IMO. You know what to prepare for, what your odds are, etc.

I went in alone with the family trees of me and DH. The counselor went through everything they have ever had or died from, to determine which tests - other than the one we knew we needed - we should take. Just gave blood to do the tests, and waited for the results. Depending on the results, they take you into counseling if need be.

Luckily I am free & clear so no next step was needed.

[IrisHope]

No, but I took some genetic blood tests before we TTC.

[flygirl]

I had a genetic blood test done five over five years ago (just before I met DH), and met with the genetic counselor a few times. She discussed the issues in fine detail, including how it might affect TTC. She discussed prenatal testing & pre-implantation testing, and the emotional ramifications of each. DH & I have discussed the issues at length and feel pretty comfortable with the decisions we have made thus far, and we plan to meet with a genetic counselor again probably after I'm pg.

I definitely recommend meeting with a counselor if you have any concerns. It's one thing to know the facts (which the counselor will discuss with you, but which you can also probably learn on your own); it's quite another to truly understand the emotional ramifications of any decision you might make. The counselor will help put things into perspective, give you background on what other couples have chosen to do in your situation, and sound advice on what you should do based on your own feelings.

[red_canuck]

We did do genetic testing, mainly because DH's family is Mennonite and his brother has a common, but sometimes fatal (but comes in so many varying degrees though) genetic disease. There are many many other diseases we were concerened about too though, as the Amish/Mennonite communities have a very small genetic base (concept similar to being eastern european). Luckily we are both free and clear!

It was risky though, since in Canada, once you are aware of a genetic condition, it is much harder to get life insurance. This was an issue when deciding to have BIL tested for the disease.

[Hula1974]

Yes, we had genetic counseling and testing. (We are not TTC yet but soon).
My brother has autism and like many families with autism, no one knows why. I was tested for Fragile X Syndrome. If you want the details on what Fragile X is I can give that to you.
The counselor was great and all the testing entailed was a blood test for me. I do not carry Fragile X, luckily but because of my brother's autism the counselor was able to give us some % chances of us having an autistic child. That was very helpful.
Someone once told me not to have the testing done unless you already know what you'd do with the results. I don't know if I follow that or not but something to think about.
Hope that helps!

[ejs]

Thanks, everyone. We do want to do the testing so we can decide if we even want to TTC or not.

Hula, what is Fragile X? I'll do a Google search, but it would be great if you could give me a quick summary.

I'd love to hear more info from everyone!

[Hula1974]

Hula, what is Fragile X? I'll do a Google search, but it would be great if you could give me a quick summary.

I'm definately not aiming at giving you a great medical definition here but in a nut shell....I believe Fragile X Syndrome is a chromosome problem that can be indicitive of mental retardation. Here is what I had written in my journal over there after my appt.
Also - I don't know about everyone else but I was lucky enough to have insurance pay for my testing due to "a family history of mental retardation". Otherwise, these tests are incredibly expensive.

2/2/05 - We decided to go to a geneticist because I have a brother who is Autistic. Since they don't really know what causes Autism they can't really tell you for sure if it can be passed on. I did know that I could be tested for Fragile X Syndrome though. The geneticist doesn't really think Alex has Fragile X though. She said that he'd most likely have some mental retardation along with Autism to have Fragile X - but since he's never been tested we don't really know. And it doesn't really matter. However, if Alex DOES have Fragile X then he had to have gotten it from Mom since Dad would not have given Alex an X chromosome, he gave him a Y. Are you lost yet? Me too. :confused: Anyway, even if Mom did give Alex a bad X it doesn't mean she gave that same bad X to me or my sister. So that's why they will test my blood to see if I carry it. You can carry it and pass it along in your egg and what happens is it multiplies or expands in the egg and can develop into full Fragile X (not just a carrier) - especially in a boy.
So, they will check my blood and do some other chromosome test to see if I carry Fragile X (if I do then there are things we can do). Regardless of that though, they said that I have an 8% chance of having a child with Autism - this is raised from the .04% chance that the average person has. This has nothing to do with Fragile X. This is just all of those "causes" of Autisim that they can't really expain.

[flygirl]

We do want to do the testing so we can decide if we even want to TTC or not.
I hope I'm not asking too much, so don't feel bad if you don't want to answer; Are you (or your DH) going to be tested for a dominant genetic disease?

[ejs]

Now I look like an idiot: what is a dominant genetic disease?

My ob/gyn suggested we have the testing because of my age (over 35) and my DH's heritage (Eastern European).

I feel like I'm missing something in your question.

[flygirl]

No you don't! I'm sorry. :o I'm just referring to a disease caused by a dominant gene. Most genetic testing looks for the presence of a gene that may increase the liklihood for a disease or defect. Or it tests for a recessive gene that both parents may carry, giving a 25% chance the child would have the defective gene. Diseases caused by a dominant gene only require one parent to have the gene, and therefore each of their children has a 50% chance of having the disease.

[ejs]

I assume we'll do both. We'll talk to the genetic counselor and see what they suggest.

DH and I just want to have all the info we can before we make our decision. If we're not comfortable with the odds, we'll look into adoption.

Are we doing something that's frowned upon by wanting to do this testing?

[flygirl]

Oh goodness no!!! I think most doctors recommend at least counseling, just to find out if you may have possible issues.

When I asked about a dominant genetic disease, I meant I was wondering if either of you wanted to be tested for a specific, known disease.

[ejs]

Well, we definitely want to be tested for the Eastern European prominent diseases (Tay-Sachs, etc.) We haven't really thought beyond that.

We know that the tests will just give us percentages and odds and that we won't know anything 100%. But deciding if we want to TTC or adopt is a huge decision for us and we'd like to have all the info we can.

Flygirl, have you gone through the testing or are you planning to?

[ejs]

We'll meet with genetic counselors (GC) and have blood taken for tests in mid-October. Based on my phone interview with a GC, it seems that DHwill be tested for Tay-Sachs and we'll both be tested for CF. We'll also meet with a GC to discuss the risks at my age.

After we get those results, we'll be closer to making our decision.

[eponymous]

The genetic disorders that can be detected through testing aren't related to your age at all. "Advanced maternal age" can cause more chromosomal disorders, but those can't be tested for until you're pregnant.

Genetic testing can still provide useful information for TTC decisions, however: if you and your DH are both CF carriers, you have a 25% chance of having a child with CF, which may be too high of a risk for you.

[ejs]

Kitlyn, I am aware that my age will not cause genetic disorders. Perhaps I phrased my post incorrectly. The hospital we will be going to, does have counselors we can speak to about maternal age issues. I have discussed them with my ob/gyn, but she recommended that we also speak with this clinic at the hospital.

"...if you and your DH are both CF carriers, you have a 25% chance of having a child with CF, which may be too high of a risk for you."
Perhaps it's my own paranoia, but I sense some judgment in the last part of this sentence.

[eponymous]

Kitlyn, I am aware that my age will not cause genetic disorders. Perhaps I phrased my post incorrectly.

I was confused - I missed the "also" when you said you would be meeting with a GC about genetic issues and a GC about age-related stuff. On a second read, your post was clear that you would be meeting with different people. There have been several threads in the past (especially on WC) where people were confused about genetics in all sorts of different ways, which is what prompted my post.


Perhaps it's my own paranoia, but I sense some judgment in the last part of this sentence.

I'm really sorry that you thought that! To tell the truth (that makes me look even more pathetic...), I was just trying to think of something else to say in my post; when I read over my first paragraph, it seemed like it needed something else. Clearly, what I needed what to not have posted. :) I hope that you now understand better where I was coming from and that I was only trying to clarify something for you that you didn't need clarified at all.

[Squee]

Just wanted to thank everyone who takes the time and effort to test for genetic abnormalities! 25% its a huge chance mum had 2 boys 1 girl, the girl had CF. No one on either side of the family had ever had CF. I just think if you can avoid you child having a disease by checking the chances before hand you can really make an informed decision. It really isnt a risk worth taking unless you can put up with waching your child suffer.

[MidwesternGal]

Hi.

I am about a year away from TTC and have been lurking around, gathering information. I have a few questions.

How much does it cost to go through genetic testing? I realize that it is probably really expensive. Is it in the 10's of thousands?

Also, once you do the testing, and find out you might be carriers, what can be done then? (I'm not trying to be rude or insensitve, I just am not clear on your options.) Is there some way to prevent yourself from having a child with that disease?

If you don't want to answer my questions, I understand. And again, I'm not trying to be rude or insensitive, those were just two questions that came to my mind as I read through the thread here.

Thank you!

[ejs]

MidwesternGal, I'll answer what I can. As for cost, I'm not sure yet. I know that the chance of our insurance company covering it is very slim because I'm not pregnant (according to the genetics place). My DH was speaking with our insurance co. about something and asked if they covered genetic testing and they said no because it's "experimental." Yeah right.

I'm frustrated because they don't want to pay for testing, but they would pay for a child that had a horrible illness such as Tay-Sachs. It makes absolutely no sense to me.

If both DH and I are carriers of something, we'll have a lot of thinking to do. As far as I know, nothing can be done to change your genes. As someone pointed out, if both DH and I are carriers for CF, there is a 25% chance we'll have a child with CF. It's up to DH and I if we want to work with those odds.

As everyone we've spoken to reminds us, no tests are 100% positive.

[Vishenka69]

A number of insurances do pay for it (a number of our friends who have done the testing didn't pay), but most don't. My HMO said that if my OB write them a letter saying that it's a medical necessity, they'll review the case.

We're planning on doing it because both of us are of Ashkenazi (not just Eastern European, but also Jewish) decent. Ejs, you only need to get tested for things like Tay-Sachs if both of you are Ashkenazi. Both parents have to be carriers for a child to have a possibily of having the disease. Also genetic testing has to do with your genetic background not your age. There are a number of tests done for those over 35 but they are done during the pregnancy not prior.

[Jazz]

If both DH and I are carriers of something, we'll have a lot of thinking to do. As far as I know, nothing can be done to change your genes. As someone pointed out, if both DH and I are carriers for CF, there is a 25% chance we'll have a child with CF. It's up to DH and I if we want to work with those odds.
Just wanted to add a little info on options available for families where the two parents are carriers (with the caveat that genetic counselors are the best source for this information!), from this page (http://www.abivf.com/pages/faq.html#faq_cf):


How can two carriers build a healthy family?

If both would-be genetic parents are carriers for CF, the likelihood of having an affected child is 1 in 4 which is unacceptably high for almost most couples. Such patients have three medical options:

* They can use sperm or donor eggs from a donor who tests negative.
* They can initiate a pregnancy and then abort the fetus if it is shown to be affected through amniocentesis or chorionic villus sampling.
* They can turn to the high tech option of in vitro fertilization (IVF) in conjunction with pre-implantation genetic diagnosis (PGD) by embryo biopsy. Here the genetic testing and selection of healthy embryos for transfer take place before implantation and pregnancy have occurred. However, IVF with PGD has its drawbacks too. Since PGD tests just a single cell, it is less reliable than amniocentesis and errors have been reported. Obviously, the live birth rate from a single IVF cycle is far from 100% while the procedures are complex, invasive and expensive. The high tech PGD option is of most interest to infertile couples who already require IVF to conceive, such as couples where the man infertile because of CAVD.

[ejs]

I don't know why I'm having so much trouble saying what I'm trying to say.

Let's just forget that I even mentioned talking to someone about my maternal age. I know that age does not carry genetic risks. I mentioned it only because we're speaking to someone about age at the same clinic we're getting the genetic testing. I know there are no pre-pregnancy tests that can be done just because of my age. We are just going to be talking to someone about my age and getting more info on the risks after a maternal age of 35. To simplify, I'll keep any conversation about this to the Over 35 thread on these boards.

I also know that testing for Tay-Sachs and other Askenazi-dominant diseases is primarily done on Ashkenzi Jews. However, if my DH, who has an AJ background tests positive as a carrier, I am also going to be tested. My ob/gyn pointed out that not everyone can trace their heritage all the way back to the beginning of their bloodline.

[sea74]

I just wanted to say I think this is a very interesting thread. I had never really thought about getting testing done. After reading it, my DH and I discussed the issue and we are going to go for testing maybe next year. We don't plan on starting to try for a baby until 2007, if ever.

Thanks for all the info!

[ejs]

bumping up for miaclear

[miaclear]

Tanks ejs... I actually did a search and read it and came to the end to find you'd bumped it for me :D

I should get my results back on my chicken pox and rubella immunities next week. I'll ask the Dr more then about the CF stuff. We aren't trying till Spring next year so we have a little time to think about it.

[ejs]

Just as an FYI, our insurance company won't cover any pre-pregnancy genetic testing. They'll cover it if I'm pregnant, but not beforehand, which makes absolutely no sense to me. So you might want to check with your insurance company.

[Hello Kitty]

Does anyone know how to request a test for a single genetic disorder? Right now, I don't have a PCP or an OB/GYN (just moved and changed my insurance) so I have no clue where to start or who to go to.

I want to be tested for a very specific disease that runs in DH's family, but not in mine (to my knowledge). We just want to rule it out before TTC, and if we can't, figure out other options. TIA!

[ejs]

I believe you need a doctor to request the test for you. I know that my ob/gyn could have requested our tests, but we (my dr, DH and I) decided that DH and I would go to the genetics center at a local university hospital.

Have you asked CCers in your area for a dr recommendation?

Has your DH already been tested and determined to be a carrier?

[Hello Kitty]

Okay, thanks. DH's brother and SIL are dealing with this right now for a second time (in Chicago) so I might ask them for recommendations on who would do the test and find a GP or OBGYN (I know there are Chicago CCers) up there who would recommend the test. Kind of going backwards, I know.

DH has not been tested. We found out it can be caused by either a dominant gene or a recessive gene, which makes everything much more confusing, so I think we both need to get tested - he with his family history, and me just because. I guess I'll find out if genetic counseling (I found a site for Illinois) is an option with our insurance.

[Sare79]

I first went for genetic testing when I was 15. My dad has a genetic blood disorder and since I got his only X chromosome, I am a carrier. This means that ifI have a boy it is a 50/50 chance of him having it, and a 50/50 chance that if I have a girl, she will pass it on to her kids. This never really meant anything to me until a few months ago when we decided to start TTC.

There isn't actually anything we can do again until I get pregnant, but in the meantime, we are attempting to follow the old wives tales to try for a girl, clinging to the hope that we would havea "healthier" baby. After hours of discussions,we decided if we had a boy and he was found to have this disorder, we would still like to go ahead. That said, we would still like to find out ahead of time so we can prepare for dealing with the disorder.

Of course, there are no guarantees in life, and even if we had a girl, there's no guarantee she would come out healthy either.

I'm just wondering if there are others with a similar situation. Do you feel any resentment towards your parents for passing on genetic disorders? Does it make you rethink having children?

[Hello Kitty]

So I found some more recent scientific journals on the disease and the genetics behind it, and sent them off to DH for decipering (biology background). What he found out is that there are several genes that have various presence/mutations/deletions and have different results/levels of the disease (Hirschsprung's). One can pass the disease on without being a carrier or without having it.

With those odds, it doesn't seem worth the time/expense to test for the one known gene - you would have to have the disease to have that gene. BIL's incidence was caused by a mutation, which is why he's the only one out of 7 kids to have it. The other genes are various mutations/deletions that happen and nothing that would be 'our' fault. I'm very relieved to have this information.

[ummserious]

I just made an appointment to do this, luckily (very luckily because the cost is HIGH) my insurance covers it. I have HMO Blue if it helps anyone. I think its kind of ridiculous not to cover this pre-conception.

Both my background and DH's background is Eastern European Ashkenazi. But ejs I have also heard that you can never be sure and if there is any chance of your husband could have an Eastern European background its worth it to check--but I'm guessing you already had your appointment anyway. I have a first cousin with Disordinomia and DH doesn't have any relatives that have anything as far as he knows. We definitely have opinions now as to how we will make decisions but I think it helps that any TTC starting time is down the road a little, so we have some time to think about.

The doctor there told me what to expect but I'm curious if anyone here can provide some perspective from the other side. Its a big deal for me to be thinking along the lines of TTC and dealing with blood at the same time. (I do not do well with needles)

[ejs]

ummserious, we did have our testing already. We were both tested for CF and Tay-Sachs.

We didn't have any other testing done because there is essentially no way that they could compare my DNA to Ashkenazi DNA. (DH is Ashkenazi and I'm not. We know my family history fairly far back.) Because Caucasians (as the geneticists call me) don't carry the genes for other Ashkenazi disorders, there aren't any DNA patterns to compare my DNA against. Argh! I'm frustrated that I can't explain this clearly.

DH and I did what you're doing. We had the tests done before making our TTC decision. We have our results, but we still haven't made our decision.

What specific questions do you have and I'll see if I can help answer them.

[ummserious]

I think its just a little complicated in terms of understanding all the details since there are so many different types of genetic probabilities out there, I didn't read all the specifics to each detail so that is probably another reason I got it wrong. Maybe I'll understand better next month.

I guess when it comes down to it, I'm curious how much blood they take. I am also curious if you went in with any documentation or anything? They asked me to fax over medical records but neither of us has had anything in our own history that points to this. We are simply following the idea that we have a possibility of carrying something based on our background.

Also, I didn't discuss CF with them when making the appointment but I see no reason why I shouldn't be tested for everything that might apply. Did anything get reccomended to you when you sat down with someone for the counseling portion of the appt?

[ejs]

This is how it worked for us: My ob/gyn recommended that we call a local university's genetics program, which her office does some work with.

I called and spoke with someone over the phone; they asked some questions about my history, DH's history, and family histories. Mainly health histories, but they did ask about heritage. They then sent us some forms to fill out in the mail with basically the same questions. They also sent us some information about CF and Ashkenazi diseases. We made our appt at the clinic. On the day of our appt, we had to attend a group seminar with four other couples and a genetic counselor. She went over the CF and Ashkenazi diseases, explaining what they were and the odds of passing them to a child based on your test results. Each couple then met individually with the counselor to discuss what you wanted to be tested for. For example, DH and I had thought that we wanted him to be tested for the whole panel of Ashkenazi diseases, but then we found out that there was no way I could be tested. So we decided to just go with CF and TS.

Next we walked to the lab. I am a complete blood wimp. I always want to know how many vials are going to be taken. The tech said two, but it was actually four. My DH told him to say two because he knew I'd freak out at four. Our results came in about a week later. We're both negative for CF. I'm neg for TS, DH's TS test was indeterminate. But since DH's identical twin is negative, we've been told not to worry about it. And since I'm negative, we won't have a child with TS.

I know that many people can get blood tests done at their dr's office. But it was important to DH and me that we meet with people who specialize in this.

DH and I want to know all of the info we can get before we decide if we'll TTC. But we went into the testing with our eyes wide open. We knew that we might have results that weren't in our favor. And we also know that the results are never 100% definite. (They'll tell you that over and over.)

Because you and your DH are both of Ashkenzai descent, I'd be surprised if they didn't recommend you get the whole panel. http://www.canavanfoundation.org/ninediseases.php

[ummserious]

Thank you so much for all the information, I really appreciate it. (I was trying to make sure I didn't bring up your test results so I hope you didn't feel that you needed to add them here, but its interesting to know they can't always get a really good guess-- I guess having a twin helps here!) I didn't realize CF was included in the panel for Ashkenazi- we're both prime suspects for needing the whole panel. We are also going through a University that is local but also well known for this department so that is good.

I'm a total blood wimp too so I'm glad to know about potentially needing 4 vials now, I will just need to make sure my husband can be in there and I am lying down. (I almost fainted getting tested for the stupid marriage blood test)

Thanks again!

[RobynScott]

My DH and I are both of Eastern European Jewish descent. We have just started TTC, but are thinking we should do some genetic testing before getting PG.

Wondering if anyone else did any pre-PG genetic testing?

[Sare79]

I did, but only because we were pretty sure I was a carrier for a genetic disease that my dad has (carried on the X chromosome). Turns out I am, and then when I got pregnant this year we went through the testing/counselling again. In this, we also found out that I was a carrier for another disease (Thalssemia) and were able to rule out that as well.

[flygirl]

Just a friendly reminder to please search before posting :).

[RobynScott]

Sorry flygirl! I usually do - I was a little anxious yesterday :o Thanks for merging!

(believe it or not, I think I had even read this thread before - doh! sorry about that)

[ejs]

My DH and I are both of Eastern European Jewish descent. We have just started TTC, but are thinking we should do some genetic testing before getting PG.

Wondering if anyone else did any pre-PG genetic testing?

If you look in this thread, you'll see that DH and I were tested for those. We made the decision to do it before TTC. One note, though, many insurance companies don't cover pre-conception genetic testing.

[diam124]

I have a question about the disorders associated with Ashkenazi Jews. DH is Jewish and of Eastern European descent. I am also of Eastern European descent but as far as I know not Ashkenazi since my family is Catholic. However, I assume it is possible that somewhere along the line someone in my family married someone that had some Ashkenazi in them since they were in the same general area. Is it worth it for me to be tested?

[ejs]

....

[flygirl]

No problem, Robyn!

[lawgirl4]

My DH and I are both Ashkenazi as well, and I was tested for the full panel of Ashkenazi diseases/disorders shortly after I found out I was pg. I came back as a carrier for one disease (glycogen storage) so DH was tested just for that, and it came back negative. For these diseases to be passed on you and your DH both need to be carriers - but even then it is usually just a 25% chance that your child would have the disease. But a genetic counselor will go over all of that with you.

So my recommendation - if one parent is Ashkenazi, they should be tested for the full panel. Then the non-Ash parent can be tested just for any diseases that the Ashkenazi parent is a carrier for, as a precaution.

[Squee]

Just dont forget that 25% is a 1 in 4 chance..that a big chance.

[lawgirl4]

"Just dont forget that 25% is a 1 in 4 chance..that a big chance."

True - but I just wanted to make sure that people understand that just because you are *both* carriers it doesn't mean that your children will have a 100% chance of having the disease, meaning that IVF is a very viable and safe option.

[kedzieb]

At my last annual ob/gyn appointment, I let my doctor know that we would be trying this year. She took some blood and ran a routine genetic testing series based on mine and my husband's age & ethnic background. Luckily I came back healthy with no specific things to test for further. If I had come back as a carrier of any specific disorders/diseases, my doctor would have had my husband come in to be checked out too. Since he hates needles, he was happy to know we could skip him!