Tuesday, March 24, 2009

Let the Science Project Begin!

Remember in Biology class when you were learning about genetics & you had to draw the four-square with big B for brown eyes and little b for blue eyes? You had to decide what the chances of having a blue eyed baby were if you had blue eyes and your spouse had a brown eye gene & a blue eye gene. Yeh, that's what this is, just on Steroids. 

We talked with a Lady from Reprogenetics today. That's the company that will test the genetic makeup of whatever offspring GRS will create for us. She was very nice & given that I have 9 pages of notes from her, she was very thorough. Here's what we have. Since this is my Science Fair Project for 2009, I'll lay it on the table. It's fun reading, great for hanging out on the beach or ... not.

Generally speaking, when there's a 1st trimester miscarriage (which all of ours have been), 50% of the time it's been because of aneuploidy, which means extra chromosomes. That doesn't mean ours necessarily, it means all 1st trimester miscarriages. That usually happens when one egg has been fertilized by two sperm or a sperm that has two sets of chromosomes. Get this: increasing age means a higher risk of aneuploidy. So HAH! I'm NOT young! So THERE! In our age group, when the stimulate the maturation of the eggs, if they get 10 eggs, there may be 5 or 6 that are reasonable to fertilize & test. Sometimes, there's a bad surprise & they'll only get one or two or none. In that case, they'll stimulate again & try to get more & better eggs.

There are two types of tests they can do. The first is called PGD. That stands for Preimplantation Genetic Diagnosis. The second is called CGH. That stands for Comparative Genomic Hybridization. 

CGH is a test in which they allow the embryo to grow for 5 days. On the 5th day, GRS extract maybe 5 or so cells from a spot that's not on the baby (in other words, from where the other pregnancy tissue is growing), put them on microscope slides & send them up for genetic testing. GRS then freezes the blastocysts until the results come back. The scientists at Reprogenetics will compare the genetic material to what should be there & send back information to GRS about all 24 chromosomes. There are some risks involved in the freezing & thawing of the blastocysts and the implantation rate goes down with freezing also. And because this is a VERY new test, science doesn't know what the side effects to the child might be. This test is more common outside the US and has only recently been done here. Brett & I aren't real keen on this test, though it does seem very thorough. We're not interested in being anyone's guinea pigs. 

The PGD test is different. In this case, GRS will fertilize whatever eggs I produce under medication.  They will allow the embryoes to grow for three days, take one cell from each, place them on microscope slides & send them to Reprogenetics in New Jersey. They will do a probe test on each cell in which they put a something on the slide that matches up to a particular chromosome. The something will light up in a florescent color. This way they will tag 12 chromosomes & they can then count them. They test for the 12 chromosomes that cause the most common problems. Brett & I are leaning towards this test. It's been around since 1990 & there has not been any higher risk of birth defects than with normally conceived children. Any risk is incurred during the biopsy.

PGD is not 100% accurate. They aim for over 90% accuracy, but there can be issues. The probe result can be unclear, the probe result can be wrong or there could be mosaic problems (ie. this cell's makeup isn't indicative of the rest of the cells). 

So, that's it in a nutshell. Science at work in our world!

This is WAY crazier than genetically engineered fruit flies in St. Pius' Science Lab! 
We'll keep you posted!
Love,
Adele & Brett

2 comments:

  1. Adele got it all down just exactly perfectly. I don't have anything to add, except that we'll be getting some more information on the CGH testing from Reprogenetics and then Dr. Perloe. But I agree with Adele that the regular 3-day PGD testing is likely the way we'll go, given that it is much more established.

    Let the Science Fair being!

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  2. Praying hard.......keep us updated.

    Much love to you both!!!!

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