Preimplantation Genetic Diagnosis-Baby's Beginning

My experiences of concieving our first child using preimplantation genetic diagnosis

Friday, April 02, 2010

New, Better Test for CVS & Amnio Samples

If you're planning to do a CVS or amniocentesis, you should ask your doctor to have your sample analyzed with this new test as well - the new Chromosomal Microarray Analysis (CMA). Just this one test can identify over a hundred abnormalities simultaneously, and is superior to older technology used to evaluate chromosomal disorders.

You don't have to do anything extra during your CVS or amnio, all you have to do is have your doctor send part of the sample afterward to Baylor's Medical Genetics Lab, the institution who is currently offering the test. As long as you've got a sample, you might as well run the test and be sure your baby doesn't have any other disorders you might not have known to test for!

Wednesday, March 24, 2010

The New Universal Genetic Test - Take it!

I am so happy they have finally come out with this! At last, there's one test you can take that will test for over 100 different genetic disorders, from the common like cystic fibrosis, to ones I've never heard of, like "Maple Syrup Urine Disease Type 1B". In the very near future, this will undoubtedly become the new standard test for all couples planning to conceive. And there's more good news - it just needs saliva, it's prick-free! And more - it's covered by most insurance! If by chance your insurance doesn't cover it, it's still only $350, which is not bad at all considering how many things it tests for, and obviously the potential life-saving info it gives. They also offer financial aid to families at high risk for disorders.

On their website, Counsyl, the company who does the test, says that most people are carrying about 4 or 5 of the dangerous disorders that they test for. It takes two copies of most of those genes, one from the mother and one from the father, in order for the baby to get the disorder. Most of the time, babies get lucky and Mom and Dad won't be carrying the same disorders. But most of you reading this realize that "most of the time" isn't good enough when it comes to your baby's life. So even if you've already identified one disorder you're at risk for passing on, cover your bases and make sure that's all you have to worry about!

I really recommend that everyone take this test. You don't even have to go into the doctor's office - you can order the test online, they will bill your insurance for you, and you just spit in the tube and send it back. I wish everything to do with conception were so easy!

Friday, June 12, 2009

Plan #5 and an exciting new option - "Mini PGD"

My goodness... are we really on Plan #5 now?? Well, this one I think will be a lot less painful. I recently found out about a new option, called "Minimal Stimulation IVF" or "MS IVF" (with PGD of course). Basically, instead of having to give yourself injections, pumping your body full of drugs, hyper-stimulating your ovaries and forcing them to produce a ton of eggs, many of which are of very poor quality, you get a more natural approach. Instead of injections, you get oral medications (it looks like usually Clomid is the main one used), and a nasal spray. (For those not familiar with Clomid, it's a very common fertility drug that's fairly gentle compared with the other more potent drugs and dosages used in conventional IVF). Instead of forcing your ovaries to produce 10-20 eggs, you just gently increase production to 3-5 eggs. No more painful, enlarged, tender ovaries! In fact, instead of the "twilight" anesthesia that puts you completely out that is necessary during a conventional IVF egg retrieval, they usually just give you a local anesthesia or just an oral pain med, since your ovaries aren't so large and tender, it's just not necessary.

This sounds like such a healthier option to me! Their success rates are actually the same as conventional IVF as well, because although you get less eggs, they're of higher quality, so you have less eggs with random chromosome problems and more that will grow into healthy pregnancies. Egg quality was what killed us on our previous PGD. Even though we had half without the genetic disorder, they either had a random other problem, or just didn't grow for no reason. And not to mention, there's usually no injections! They say some women require a few injections depending on your specific situation, but they are always much less than with conventional IVF. Sounds awesome to me! It's freaky having to give yourself shots.

The #1 clinic in the U.S. that does this is the New Hope Fertility Center in New York. For international readers, I believe Japan is currently the leader in this new method. Check out their website, they've got a lot of good information on there. The one negative I've found so far, is that they send out most of their PGDs. They only do PGDs in their center for gender selection. The rest are sent to another clinic for analysis. It makes me nervous thinking of our embryos being sent back and forth, that's why we travelled to RGI in Chicago before, to avoid our babies getting shipped. However, I think the safety and health benefits of their method is more important than avoiding shipping, so we'll just have to go with that. It is a very common thing, I know. Just makes me nervous.

I called them up today for the first time, and their setup is very easy. We don't have to do anything until we're ready to do the pretests and exams, which is certainly a nice change from the never ending paper pile we went through at RGI. RGI will still do our PGD portion of the procedure, since they are really one of the few that has experience with our genetic disorder and they already have our probe done. They don't accept our insurance, so I'm not sure if they will help us file an insurance claim or if we'll need to do that on our own, which will be a bit of a headache. However the cost of this is less as well - it looks like it will cost roughly about $10,000, according to the fees on their website, as opposed to the about $25,000 at RGI.

I'm going to take a long 6 months to recover this time. One for each month of pregnancy, plus one since I know now that a termination is harder on the body than a miscarriage, plus another one just for my husband, who is really worried about my poor body after all these procedures and is also just a bit stressed out and needs a break. It will work out well since we can do the pretests and exams before the holidays, then do the PGD cycle in January.

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