The Risk Moving Forward

The final amniocentesis results finally came back about 10 days following the FISH results. These unfortunately left us with additional unknown and several questions. For the final amnio results the cells were left to grow for 7 – 10 days and then they were to be tested to determine the exact karyotype of the baby’s chromosomes. Well 10 days later the cells never grew and therefore we ended up with inconclusive results. We obviously felt once again like the exception rather than the rule but our genetic counselor proceeded to tell us that this was something she’s seen in trisomy 13 before so although it’s rare it is common. I’m not sure how one can use rare and common in the same sentence but we went with it.  So now were left with the question of what type of trisomy 13 was it? Was it the genetically inherited type where for some reason either my husband or I had an extra piece of the 13^th chromosome attached to one of our chromosomes?  Or was it in fact a genetic fluke in that it was a random event and had a small chance of occurring again? And lastly was it full trisomy 13 or was it mosaic, which we’ll never truly know but odds are it was full trisomy 13?

We were left asking ourselves, what now? I had read a lot about what other genetic testing could be done in the event we found out we were indeed a carrier for something. This would involve going down the IVF route and doing pre-implantation genetic diagnosis (PGD) of the embryos before they inserted back into the mother for implantation. Which I’m sure if you have any idea how much IVF costs this only would increase that cost significantly as well as complications.

Luckily, we had great resources available to us that recommended we do parental chromosome analysis to determine if my husband or I have any chromosome anomalies. So after some fight and several conversations with my ob/gyn I was able to get us both a prescription to get this blood test performed. All we had to do was go to one of the hospitals labs to get it drawn. Now herein comes even more complications. Evidently the hospital doesn't run these tests very often so the first attempt to get the blood drawn was halted due to the staff not knowing how much blood to draw or the correct tube to use. After several phone conversations the following day we finally were able to get our genetic counselor to straighten out the test requirements with the lab.

My husband and I went back the following evening to get our blood drawn. Now anyone that knows my husband knows he does not do needles well. He knew we wasn't going to be able to give nor watch the fertility injections and he has a history of passing out with getting blood drawn. We made sure the lab staff knew his history and we made sure he was laying down during the procedure. Once his blood was drawn we made sure he sat in the chair for some time and after a few minutes he said he was feeling well and let me get my blood drawn. As soon as I was finished my husband said he was getting lightheaded so we immediately had him sit back down. Two minutes later he was passed out and went in and out of consciousness a few times. In my opinion one of the scariest things I’ve seen him go through before. I’d rather not see that again so I was hopeful that this was the last time either one of us would have to get blood drawn for quite some time.  

Two weeks later, we finally received the results. Both of our chromosome analyses were normal. We were not carriers for trisomy 13. This was quite the relief. Now the only chromosome we were concerned about what the 7^th chromosome. We still wanted to know whether I was a carrier for cystic fibrosis. This was supposed to be tested back in April but wasn't for some reason. Luckily, if I was not a carrier my husband would be spared of any needles so we were hoping for that based on the previous experiences. But as far as trisomy 13 we were now at a 1% chance of having trisomy 13 happening again in a future child. That 1% is significantly high based on the typical risk for other 29 year olds who are having children but we weren't scared. We knew we wanted a family and we were willing to go whatever necessary to get there this was just part of our journey.