It doesn't seem like I'm ever going to be released from limbo-land. CGH was supposed to be our answer. But it looks like even the most high tech thing out there isn't even able to help us. I feel like I've been holding my breath all this time and thought I could start breathing again once we get the results. At least we would know one way or the other. But I was wrong. I don't even know if I could ever breathe again...
I received a phone call from our genetics counselor around lunchtime today. I so was not expecting a phone call from her at this time. Although my heart was excited for a very brief moment, I sort had a feeling that there's going to be bad news. She asked if we had time to discuss things. It cannot be good news if a genetics counselor is calling about CGH results and asks if you have a moment to discuss things. I asked her if it's bad news, and she said, "Complicated." Immediately, I knew that there was a problem. My first thought was that maybe our cells got lost in transit from Colorado to New Jersey. I was not prepared for what she was about to say.
The genetics counselor told me that Dr. Mandy Katz-Jaffe (CCRM's genetics research director) received our CGH report via phone from Reprogenetics, so she does not have a detailed, written report yet. Out of the 15 blasts biopsied, she said that 8 of them were abnormal. Ok, I guess that's to be expected. I was prepared for that. I wasn't prepared to hear what she was about to say next. The rest of the blasts were 'no results,' meaning that they aren't normal nor abnormal. Huh? She then went on to say that it has nothing to do with our embryos but that it's a limitation of the technology. Huh? I was confused. If CGH could determine 8 embryos as being abnormal, why can't they determine the rest one way or the other?
She said that Dr. Schoolcraft and Dr. Katz-Jaffe had a lengthy discussion about our situation, and she informed me that they never do that. They either defer it to one or the other, but I guess they wanted to discuss the best way to proceed given the circumstances. For the seven embryos with no result, Dr. Schoolcraft and Dr. Katz-Jaffe are recommending that Dr. John Stevens (CCRM's director of the embryology department) thaw the 7 embryos, re-biopsy them, and re-vitrify them. Then send the biopsied cells to Reprogenetics next week where they will perform FISH analysis for the translocation only (13 & 15). The genetics counselor emailed me papers that we will have to sign to have the 7 embryos re-biopsied and re-tested. Dr. Stevens would be able to re-biopsy them next week and we could get the results before Christmas.
Our second option is to do the re-biopsy and re-vitrify them. Instead of doing FISH analysis for only 13 & 15, they could also do aneuploidy screening (14, 16, 17, 18, 21, 22, X, and Y chromosomes). Because of my age, she said that I am not at an increased risk to produce eggs that have an abnormal number of chromosomes. Dr. Schoolcraft and Dr. Katz-Jaffe both agree that screening for aneuploidy (14, 16, 17, 18, 21, 22, X, and Y chromosomes) in addition to the translocation may reduce the number of normal embryos that would be available for transfer. As with any PGD (FISH and CGH), it is only 90% accurate and, therefore, it is possible that a normal embryo could erroneously be scored as having aneuploidy. They don’t want to risk that. Their goal is to eliminate the embryos with an unbalanced translocation, thereby preserving the embryos that are normal for the translocation and offering them for transfer.
Our third option is to do nothing and take our chances with the transfers. I asked her the consequences of transferring aneuploid embryos. Embryos with trisomy 13, 18, and 21 all could result in live-births; however, babies born with trisomy 13 and 18 would die within the first couple of weeks of life. Abnormalities with 14, 15, 16, 18, and 22 would always result in a miscarriage.
Before we decide what to do, I want more information on the 8 CGH abnormal blasts. Do all 8 have the translocation? If so, is there a pattern as to what other chromosomes are abnormal with the translocation? I still don't really understand why the 7 blasts had no results. She said that it has nothing to do with the embryos but with technology instead. But she said that CGH could screen for translocations. She said that ours is the first case using CGH to screen for translocations. I guess I'm just confused, just so confused.
Posted by Linda at 10:55 PM