Tuesday, January 15, 2013

Counsyl Genetic Testing

I've been thinking lately how much effort we've put into having a child thus far, and how it has brought us to where we are now...ready to try IVF for our best chances at a successful pregnancy. I thought the decision to do IVF would be the hardest one alone, but what I'm realizing now, is that doing IVF just presents other decisions regarding how far we'd like to take the process.

As you may already know,  IVF now allows for other optional procedures to be done at the same time the embryos are outside of the body. There is ICSI (Intracytoplasmic Sperm Injection) which is the process of taking the healthiest looking sperm and injecting one straight into each egg for guaranteed fertilization of every egg retrieved. Then there is gender selection, for couples who really want to have a girl or a boy. There is also PGD or PGS (Preimplantation Genetic Diagnosis/Screening) for couples who want to make sure the embryos they put back into the mother-to-be are healthy.

For us, we could care less about the sex of our baby. However, like any parents, we want more than anything to have healthy children. Most people don't think twice about genetic testing before they have children (unless they've already had one child with a life threatening or debilitating disease). In cases where couples have had one child with disabilities, a major concern lies in what might happen if they go on to have another. That is why PGD & PGS were invented....to allow couples to weed out "bad embryos" and save themselves and their future child a lifetime of heartache and pain.  It's becoming more and more common for couples to use this amazing technology so ensure that they have a healthy baby. 

During PGS, one cell is removed from each multi-cell embryo on Day 3 of the fertilization process and a chromosome analysis is done on the single cell. This will reveal any abnormal karyotypes, aneuploidy, etc....things like Down's Syndrome that are the result of chromosomal abnormalities (perhaps age related or where the parents are not "carriers"). Then, there is PGD, where the same process is used to remove one cell from the multi-cell embryos and test for abnormalities. However, PGD differs from PGS in that PGD tests for specific diseases to which the parents are known carriers and have potential to pass the disease down to offspring.

For example, if a mother-to-be is over age 35 but has no family history of genetic diseases and does not test positive as a carrier for any genetic diseases, she may still be concerned about elevated risks of Down's Syndrome and may opt to do PGS with her IVF to ensure this does not occur. It basically takes the traditional form of post-conception screening and converts it to process whereby she can screen for the disease pre-conception.

Similarly, if a couple has a child with cystic fibrosis for instance, they may want to use IVF with PGD to make sure they do not have another child with cystic fibrosis. Or if a couple who has never had children does genetic testing on themselves (as a precautionary measure only) and is surprised to find that both partners test positive as carriers for a specific genetic disease such as cystic fibrosis, they could also benefit from adding PGD to their IVF protocol. In either case, the embryologists in the lab would test each embryo and only save healthy embryos for the couples to use now or in the future. Pretty amazing right? You can read more about it HERE if you like.

Even though most abnormal embryos would most likely fizzle out prior to the embryo transfer through an inherent natural selection process or just miscarry once inside the womb, there are no guarantees they would do so. I don't understand why people, and even dr.'s say things like, "Oh, if there's something wrong with the embryo, it will just miscarry on it's own. " Ummm, not necessarily. Why do you think there are thousands of children in this world with life threatening diseases? And besides, who wants to keep miscarrying over and over and over again if it's possible to test the embryos and pick the healthiest ones to put back in? Even though the technology is not 100% accurate, it's more accurate than doing nothing.

Granted, if we could have conceived a child already through the normal process, we wouldn't even be having this discussion right now. We would have "relaxed" "taken a vacation" or "just stopped thinking about it" and would have magically gotten pregnant. However, that is not the case, and it has not been our path. Our path now seems to be leading to IVF, and that means whether we would have liked this as our first choice or not, my eggs will be taken out of my body, fertilized with hubby's sperm in a lab, and the embryo(s) will be transferred back into my body. Hubby and I have discussed PGD & PGS and both feel it may be beneficial to consider. Trying as long and hard as we have so far, why not do what we can to ensure a healthy pregnancy BEFORE it happens?

Women everywhere do prenatal testing as early as 10 weeks along to determine if the baby is healthy in order to make sound decisions or "prepare for the worst". If I had a prenatal test at 10 or 12 or 16 weeks along that told me my baby wasn't healthy, I'm not sure I could bare ending that pregnancy. Talk about being a nervous wreck! However, testing a microscopic embryo the size of a few grains of sand (Yes, that's how small it really is!) and choosing not to even give it life BEFORE it's ever even placed back inside the uterus is a different story. Although we aren't completely decided yet, we feel like it could be a REALLY smart decision for us and our future baby to use the technology available. That's what it's there for after all!

We've already done chromosome analysis on both hubby and me, and as you may remember if you read my blog, hubby had an abnormal chromosome analysis (even though he's perfectly normal). Even though it's unlikely his 45x, 46xy karyotype would be passed down to offspring, it is still possible. And if it was passed down to offspring, the child could be lucky like him and  have no major presentations at all OR it could have some major issues. There's just no way to tell without a crystal ball. For this reason, we're considering doing PGS testing at minimum.  It would guarantee that we do not use any embryos which show aneuploidy in them. In addition, my age and my DOR diagnosis also put me at higher risk for having chromosomally abnormal eggs/embryo's. Of course, screening with PGS can also lead to having fewer embryos left for transfer, because it rules out using any abnormal embryos. We do know that is a risk and are considering that aspect in our decision as well.

In order to determine if we should consider doing PGD, we first need to know if we ourselves are carriers for any specific genetic diseases. In my case, my mom was adopted at 5 months old, and I really don't have much family history on her side. For these reasons, we have opted to do something called Counsyl Testing.  It's a very simple process to screen both partners as carriers for 100+ diseases. Many OB/GYN's and RE's are now recommending this testing to couples prior to them even beginning to try to have a baby. Reason being, if they come back as carriers for a disease, it may change their reproductive choices. They may opt for IVF with PGD/PGS, adopt, or not have children at all. The point is that it gives the couple choices. It's pretty inexpensive considering all of the info. you are getting.  If you are interested in learning more, definitely check out Counsyl's website and contact them directly or your physician for more info. It's worth mentioning that this is the same testing that fertility clinics use on women who donate their eggs and men who donate their sperm to ensure that proper matches are used for donor recipients. Makes sense!

Once you order the test kit, this is what comes to your doorstep about two days later...



Then, you and your partner spit into separate test tubes and mix a preservative solution with the saliva...



Place the tubes back in their own little biohazard bag along with each person's name & DOB...



Put them in pre-paid FedEx envelopes, which are provided already, and schedule a pick up...



That's is! DNA is so cool! It's absolutely amazing they can test for so many genetic markers like this! I think if you surveyed parents of kids with rare genetic disorders and asked them if they wish they could have done a simple test to learn what their risks were, I bet close to 100% of them would say yes. In fact, I did ask a girlfriend of mine who's son has cystic fibrosis about it, and she said "DO IT!!!" It hasn't always been this easy to test DNA so simply and inexpensively, that is for sure.   I realize that we may find out information about ourselves that we otherwise would not have known, and we are both ok with that.

In addition to the saliva tests, I will give a blood sample at one of their lab centers for Fragile X, which is also another important genetic marker to know about. That one must be done separately. It takes about 2-3 weeks to get the results on everything. The results of the Counsyl Testing will help us determine if we'd like to do PGS or if we should consider PGD to test specifically for a known risk. We'd like to have more than one child as well, so I just think it's good to know exactly what we're made of first. Would love to hear your feedback if you have any on this subject!

-What do you think about Counsyl Testing?
-Have you considered doing IVF with PGD or PGS?
-Have you decided against doing either of the above for any reason(s)?

24 comments:

  1. We decided against doing both counsyl testing and IVF with PGD or PGS because we don't have any family history of genetic disease or abnormalities on either side back 3 or 4 generations. We also didn't want to be faced with the information and or decision should one of our embryos come back abnormal.

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    1. Yeah, I think that is the one thing that really urged me to do the genetic testing. Not knowing half of my family history drives me nuts sometimes! I have been doing all of this digging to figure out why I've miscarried, what I need to look out for health wise for myself, and I feel like it's normal I'd want to know if there's anything I should at least "keep an eye out for" with my future children. It's a blessing to know full family history, but not everyone has that luxury. I do try to just put my faith in God and know that everything will work out obviously. However, I also don't want to have 5 more miscarriages without knowing I've found out all the info. I could do figure out how our genetics may or may not mesh and thus be causing issues to even get pregnant in the first place.

      I just feel like the more info I have, the better. I mean, if I wouldn't have insisted I get an RPL panel done, I would still have no clue I'm actually positive for 3 Phospholipid Antibodies and that I need to take Lovenox next time I get pregnant to avoid losing the prenancy! Now I know because I am learning more about my body! The Counsyl Testing also tests for carriers of things like thrombophilias as well as MTHFR, which are related to the APA's, so I'm interested to see what else if anything comes back.

      We aren't decided on doing PGS or PGD if anything yet. Just trying to educate ourselves and see what risks are there (if any) so that we can make the right decision for us.

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    2. I think that if I was in your situation where I didn't have access to my medical history I would have done the genetic testing. I've been pushy about doing testing for why we aren't getting pregnant and my DH is not always on board for being so pushy, but I figure what's a vial of blood (or 15) to figure out if there is some reason why we aren't conceiving. Now that you mention it though I kinda want to ask about some clotting disorders because I had one as a child and it's always worried me. I have an appt with my RE on Friday to do the trial transfer and I will ask him then.

      I also agree with the below poster, each life is a life and I don't want to be responsible for life being snuffed out because of my decision. FET scares me because there may not be embryos that get through it and that thought makes me feel guilty. IVF is such a huge emotional and ethical dilemma and there are some parts of it that truly scare me.

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    3. I am so glad I found out about the clotting factors. I had absolutely no clue I was positive. My levels weren't just slightly raised either...they were significant. I am very grateful I know to take Lovenox now. I've also been finding that many RE's actually suggest using Lovenox or Heparin for those with APA's right after embryo transfer in IVF cycles to facilitate implantation. Not all RE's do this, but it seems like those who deal with autoimmune issues more regularly are more likely to use that protocol. I haven't asked mine about it yet. The book I just read on IVF also suggests doing this if you are positive for clotting factors or thrombophilias.

      I agree with you about IVF altogether. It's A LOT for any couple to consider and not something to be taken lightly by any means. Will continue contemplating over here...

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  2. I honestly have such a hard time with this. While I see what amazing technology this is, we are also talking about human life. A life is a life. It sounds like those parents who would definitely get the testing done, would chose to not have their child and that I must disagree with. Every parent of a special needs child (in any and every way) I know, loves that child and will tell you what a gift they are. For me, every life is a life and if I bring it into the world, whether that is embryos through IVF, I will give them the chance at life. I'm not the creator of that life, nor will I be the one to put it out. I know this is very controversial, but you asked! :-) So that is how I feel.

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    1. I love the honest feedback. That IS why I asked! We're certainly not 100% decided on the issue, and I totally see your viewpoint. As a former teacher of special needs students myself, who also grew up with a mom who taught special needs students until the day she died, I know more than most people who wonderful these kids are no matter what issues they have. I also know how VERY HARD it can be.

      I don't think my friend (the mother of the cystic fibrosis child) was saying that she would choose not to have her child...not for a second. However, I do see how hard it is for her. She is faced with the intense strain of caring for her son and knowing every single day that all of the pain and suffering she watches her child go through will only end one way. Of course it doesn't make her love him any less! But if she could wish any different type of life for him, she would. She would take away all of the hurt and pain and suffering and let him live a normal carefree life without so many worries. There is no cure for her son's disease, and she knows she will bury her child. It is absolutely heartwrenching to say the least. I think her telling me to DO THE TEST was because she wishes she could just take it all away for her son.

      I totally agree that every life is a life, but a lot of people could say the same exact thing about IVF itself...that if it doesn't happen naturally, and a couple chooses to use science to have a child, then it's not exactly in God's hands anymore. I'm not saying that myself just to be clear! I don't believe that. I just know there are people out there that do think it's outside of their faith and beliefs to do IVF at all, in much the same way...that it's tinkering with humanity and is religiously unethical.

      I do love the feedback! I want to think about these things from all angles and I appreciate your honesty!

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  3. Hi Em. Our RE recommended PGS because I'm over 35. Based on my canceled cycle, I might have DOR which is even more of a case for doing PGS. We also did the counsyl test although it was a blood test at the clinic...no saliva. I had concerns about losing embryos but doing the genetic counseling (our company is natera) really helped alleviate my concerns. You can still decide to do whatever you want with your embryos even if they are abnormal. But you just have more information. The only drawback in my mind is cost. But you could end up having multiple miscarriages if you don't do PGS by transferring abnormal embryos. In the beginning, like you, I was truly conflicted. Give it some time and it will become clear what the right thing is for you and your husband. It really is a very personal choice. I would recommend talking to the genetic counselor and get all your questions answered. The other thing that made me feel comfortable is that you don't pay until they receive your cells. So you can always plan for it and change your mind once you see how many embryos you get. Good luck deciding what's best for y'all.

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    1. The DOR does also concern me. I look at statistics and know that my "egg age" is greater than my real age most likely due to this diagnosis. I had wondered how they handle it if/when you have the PGS and find out certain ones are abnormal. I am wondering how detailed a report you might get or if you have the opportunity to back out of discarding any at any point. That is good to know!

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  4. We decided not to do PGS or PGD with our IVF because basically we wanted as little tampering with the embryos as possible. Heck, we didn't even want to use ICSI or assisted hatching(even though both was performed wihtout our permission). There is SO MUCH science involved in the entire IVF process, science that I am so thankful that exisits! However, for us, we wanted to leave the few pieces that we could to faith, God, natural selection, and survival of the fittest. It may seem silly to some that we spent thousands of dollars to take "chances" at times when maybe a chances didn't need to be taken, however, we knew that it was all a big gamble anyways, and there were never any guarantees. It somehow made me feel better knowing that even though we were making a baby in a lab, and not from a night of passionate lovemaking, that there was still some miracle of life and God's hand at work instead of all science and the hand of an embryologist.

    Pretty sure it's not the approach that everyone would decide on, but we both felt really strongly about it.

    Good luck with your decision. I truly think that the hardest part of IVF by far, is not the shots, or the 2ww, or any of that...it's is all the decisions that have to be made before and during the process. I'll be praying that you will make the best decision for you, your husband, and your future babies!

    Hugs,
    Kara

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    1. I am slightly concerned about messing with the embryos as little as possible too. I have read that sometimes it's not worth the risk of beating up on an already fragile embryo, but then again, if it's a good embryo, perhaps it can handle for wear and tear? These are definitely questions I'll be asking and weighing the risks vs. possible benefits. I'll definitely be sleeping on it and praying on it some more before we do anything!

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  5. So interesting Emily, thanks for sharing about the process. We are not going to do any testing partially for religious reasons and partially just for personal reasons. I don't think testing would change any of our decisions no matter what we found. We also don't have any genetic issues on either side our family which doesn't motivate us to do the testing.
    That said, if we had a different situation we might be up for it. I love reading about it though. It's so interesting!

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    1. And there lies the million dollar question...Will doing the testing change the decisions you make along the way or the outcomes. If not, it certainly doesn't make sense to do it. I think that is where we're at right now; Wondering what types of decisions we'll make if we receive bad news about certain embryos. What are the chances we're willing to take if we find slight abnormalities chromosomally? What types of standards are we trying to adhere to here, and where do we draw the line? How will it affect our decisions having the info?

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  6. I like the Counsyl testing. I think it's great to know what is in your background and what the risks for certain things are. DH hasn't been tested for anything, but since I'm ashkanazi I'm apparently at risk for a whole slew of things (so much for being a chosen people, LOL), so I had a lot of testing done and luckily negative for everything. DH and I decided we won't do PGD or PGS if we do IVF because we feel every embryo produced deserves a chance. I am so scared of having a special needs child, because I work with them. When I first started TTC all I could think about was what if my child has autism? I know special needs in theory is rare, but when it's your job, then every kid has it and I see what these parents go through. I see what I'm going through now (all of us) for a dream of a child, just to get that child and then he/she have a major disability seems so hard and unfair. At the same time, I want to see what DH and I can make together, this is why I haven't proceeded with adoption yet and for us to use PGD or PGS to pick and discard seems like a farse to myself. I'd also feel like a hypocrite in my own field if I chose not to use an embryo because of a problem. Like here I go to homes, tell parents it's going to be okay and we can work through this, then in my own life I go back and say, nah, not for me.

    I do want to say that I understand people who choose it and people who do not and not for a minute do I judge anyone who chooses either way. We all have to make the best decisions for us and our circumstances.

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    1. I think we in are somewhat similar boats. I am not afraid to admit that there are just certain disabilities I don't think I could handle as a parent. I would challenge anyone to teach a classroom full of kids with severe disabilities 5 days a week, including kids who are severely impaired, who are blind, who are paraplegic, who can't go to the bathroom for feed themselves, and who throw tantrums 24/7. I have spent plenty of time with these kids, and I know how hard it truly is trying to work with them as an educator, yet my job was done once the school day was over. It's MUCH HARDER on the parents. I just don't think there are certain things I would wish on anyone if it could be prevented in the first place possibly. I think A LOT of the parents of these kids, while they do love their children and wouldn't give them up for the world, would attest to how hard it is to know all the dreams you might have had for your child simply won't happen, and that they are left struggling so much day in and day out. I also have utmost respect for both sides of this issue, but I don't think you would be a hypocrite by choosing another life for yourself other than the one others didn't choose for themselves necessarily.

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  7. If we were doing IVF, or anything with my husband's sperm, I would absolutely want to do Counsyl and, possibly, PGD. Although my husband has two healthy children and I have a healthy daughter, his age (and possibility of sperm/chromosonal abnormalities) concerns me.

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    1. Thanks for your input dspence! I appreciate the honest feedback!

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  8. Emily, you always give us so much great information. Thank you!!! Even though I'm not at the IVF cross roads yet, I do know it could be around the corner and I have also been considering the PGD and/or PGS testing. Being 35 and having DOR seems I need every good egg in my corner, no?! Thanks again for this...I think you just helped confirm what we will do and gives me all that more info for my appointment in Chicago on Monday!

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    1. No problem Suzanne! I didn't really understand the differences of what PGD and PGS even were when I started learning about it. Nor did I know much about the genetic testing. I hope your apt. in Chicago goes really well, and I hope you get all of your questions answered. There are so many decisions that need to be made along with doing IVF, and it never hurts to start thinking about them or talking them over with your partner...at least that's is how we're handling it. We are still at least a couple months from even beginning the IVF process most likely, but we don't want to be rushed into decision making if/when the time comes. We just talk about things along the way when they come up, and I feel like it helps so much to know where the both of us stand. Then we can make a list of questions to ask the RE, and then come back together to discuss again.

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  9. You are full of so much useful information. I feel like I am learning so much everytime I read one of your posts.

    Loved the part about relaxing or taking a vacation to get pregnant. Ha! Reminded me of a comment you recently left me. Made me laugh out loud!

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    1. Well, I don't know it all that is for sure. To be honest, sometimes I blog about things just so I can understand it better myself...kind of like when you write something down, then you can remember it type thing.

      And yes, I've taken quite a few vacations and have done quite a bit of relaxing since stopping birth control in 2008 and I've yet to had a kid, so that wise piece of advice doesn't seem to work for me. Go figure!

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  10. Cooooool! I'm so curious to see what the results of this tell you. I guess I'm sort of hesitant to do it on our end because we have yet to suffer a miscarriage or see any other hint that either one of us has a genetic/chromosomal problem. But still - I'd sign up for it in a second if I kept getting BFNs during the IVF process. Hopefully it's available in Canada! :)

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    1. Oh, I am sure the Counsyl genetic testing is available in Canada, or something similar. PGD & PGS are available all over the world of course.

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  11. Thanks for the info Emily! I was telling my DH about this last night and he thinks it's so awesome. We have had three miscarriages and everything has come back normal, so I think it's about time we take matters into our own hands :) I'm not sure if we'll have to go the IVF route yet, but it's so encouraging to know about the PGD and PGS before the embryo transfer.

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    1. I'm so sorry for your losses Sara. I can't say doing all of this will prevent us from another loss, but it may lead to more answers, which could indirectly prevent another loss. We shall see what we find out!

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