aCGH results. Did you put your bets in?

aCGH, (array comparative genomic hybridization), is a type of genetic testing that allows for the detection of all 24-chromosome type aneulpiods.  In other terms, a test that looks at the cells of the embryos to see if an embryo is ‘normal’ or ‘abnormal’.  This technology is used with IVF, but is not part of an IVF unless recommended by the RE/embryologist or requested by the patient.  For women of older child bearing age they typically recommend PGD/CGH (unless an egg donor is being used) since the chance of abnormal embryos are higher after the age of 35, but for women in their 20’s and early 30’s, CGH/PGD is not typically something they urge you to do.  You will find couples opting to do genetic testing that have history of RPL (recurrent pregnancy loss), several failed IVF cycles, structural chromosome rearrangement, or couples that carry markers for certain genetic diseases (i.e.. Huntington Disease, Cystic Fibrosis, Muscular Dystrophy et.).  The purpose of CGH/PGD is used for the diagnosis of genetic disease prior to implantation so that you can ensure that the embryos you are transferring are healthy and have the ability to implant and survive.

Our first IVF we didn’t think twice about testing our embryos, I was only 27 and there was no reason to.  After the 2^nd & 3rd miscarriage we brought it up to our doctors but was told there was still no reason to, so we didn’t.  Then the 4^rd m/c … we asked if we genetic testing is something that we should really considering it but since our 4^rd pregnancy was a healthy baby girl we were still advised there was no real reason to.  5^th transfer came around and I really, really, reeeeeally wanted to do genetic testing, even sought a 2^nd and 3^rd opinion, but was again advised there was no need for genetic testing.  Granted it was our choice and we could have done it, we took the recommendations of all the doctors and opted out – worst decision we made.  Lesson: Always trust your instincts!!! So despite our better judgement we opted not to.  

What a slide of Trisomy 21 looks like.  (3) Chromosome 21's instead of 2

That was the cycle we had 2 textbook perfect embryos.  Then 5^th m/c  - our Trisomy 21 (Down Syndrome) daughter.  We would have done testing for our 6^th IVF, but because it was a FET (frozen embryo transfer) we were unable to since it would require the embryos to be thawed, biopsied, then re-cryopreserved (to wait on results) and thawed out again.  It would have been far too much trauma for the embryos to handle.  

When we finally switched over to Dr. Sher there was no questioning if we should do CGH, it was a given and a must, mostly due to my history of RPL, but also our history of aneuploid pregnancy. 

Last cycle we did mCGH (metaphase comparative genomic hybridization).  We started with 13 embryos being biopsied, but by Day 5 we only had 4 embryos left ( only 3 of them were able to be tested).  With our previous cycle the mCGH results were: 1 normal embryos, 1 abnormal and 1 incomplete.  An incomplete result just means that when they went to look at the DNA strand, part of the DNA was missing (either during the biopsy, transferring of the cell to the slide,  during shipping, or a million other reasons, pretty much just human error) and an incomplete results happens in (I believe) <10% of cases.

With mCGH one cell is extracted on Day 3, its done in a lab in Turkey and takes 5-6 weeks to get results.  It is also much more expensive.

This time around we did aCGH, similar testing (both look for genetic abnormalities) but with aCGH a few cells are removed from a Day 5 embryos and results only take 2 days.

Difference between aCGH vs. mCGH

This cycle around they were able to test 13 embryos on Day 5.

Results: 4 came back abnormal, 2 came back inconclusive and 7 came back normal.  For a total of 9 frozen embryos waiting in SIRM - Las Veas for transfer.  9!!!  

And for those questions flying though peoples minds - no, not all 9 will be transferred.  I did asked our Baby Baker if she wanted to be the next Octomom, but I guess that didnt sound too exciting to her!  I think she would have gone for it if I didnt tell her she would have to keep half of the litter if all 9 took.  But in all reality, most doctors will not transfer more than 2 genetically 'normal' embryos at a time, because of the higher risk of multiples.  Success rate of a genetical 'normal' embryo to implant is >60%.

Going through the waiting process of this cycle, I knew all we needed in the end was 1 healthy ‘normal’ embryos, but of course preferred 2.  My hope was that we could get 4, so we could have 2 on ice for future use, since this was the last fresh IVF attempt I will be doing.  What I kept saying my ideal of great news would be, was if we got 6 normal embryos.  I would be on cloud 9 and more if that new came, but knew that seemed pretty much near to impossible and knew my hopes were far too high for that.  Well God gave me that 'near-to-impossible' of what I wanted and then threw in some humor by adding in 1 more to that 'normal' embryo for the icing on the cake!  Never, ever, did I think we would have news of 7 normal embryos.  Crap, now wondering what they heck we will do with all of them.  

We do know the sex of all 7 embryos, and will share that news when we are ready. But of course if we tell everything at once, what would be the fun of that!