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)?