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. 

The peach revealing some personality at 13 weeks!

I went in for a routine appointment to get screened for genetic disorders. My husband and I decided we would rather know ahead of time whether our child had the risk for a genetic disorder prior to birth so we could be prepared. So we elected to get the screening done. We were told all it would be was an ultrasound. I sat down with the ultrasound tech and got the warm gel applied to my tummy to start the screening. Well low and behold our baby was currently hanging on its tummy vs. its back where it needed to be for the measurements to be taken. The tech tried to jiggle the area to get the baby to flip. Well this morning the baby decided to be a little difficult and not move. It must have been comfy and personally I don’t blame it. I love lying on my stomach although that is not an option currently.

She said they give the baby three tried to flip around. She told me to wait 10 minute in the waiting room and we’d try again. I figured maybe if I’d empty my bladder the baby might have some room to move around so I went to the bathroom in hopes that might help. The second round proved that the baby was able to move around better now but was still lying on its side vs. back. Once again no luck in moving the baby.

After this try, I decided to walk around outside the office in hopes that might help. I also did a little jumping around praying anything would help. During the third ultrasound the baby had indeed moved onto its back but it was more upright than lying down and this still was not the right position. I guess after the second fail the tech had spoken to someone else in the office about the options for me. As I was already 13 weeks and 4 days and the test was only able to be done until 13 weeks and 6 days so rescheduling the appointment wasn’t an option. Since I had not started at this office until the week prior I really missed the key window of opportunity.  She mentioned that there was a new test available that just collected the mother’s blood and was able to pull the babies blood from the maternal blood and examine the chromosomes. The only caveat was that this test was not yet implemented as an option in this office. They had not talked to all the doctors about the test yet.  

Luckily, the staff was willing to talk to the head doctor about my situation as they had planned to start offering the test in the next week or so anyhow. They were able to fit me in to be counselled about the test my one of the OB doctors and also were able to secure the right paperwork and testing equipment for me to get the test completed today. So shortly after filing out some paperwork I spoke to the doctor confirmed that the test was just blood and would have a minimal cost. It would test for all genetic disorders and also happened to be a little more accurate. Oh and it also would tell us the gender of the baby if we elected to find out. The nurse came in after speaking to the doctor and drew my blood and I was on my merry way about 90 minutes after I first arrived at the office. Since was obviously not how I had intended to spend my morning but I was glad a solution as found and everything worked out. We already have realized this child is going to give us a run for our money and is already taking some of our personalities that we express at times! And who knows we might be finding out the gender sooner than expected but that will be a secret that we will not be telling anytime soon! 

Second Test Results

My second blood test results came back great! My hcg levels had increased from 638 to 1400s in 48 hours! This was great news! We were then set up with an ultrasound for two weeks later when I would be 6 weeks pregnant. We would then be able to see our little offspring on and possibly even see a heartbeat.

At this point everything was really starting to settle in that this was real and we were really on the road to being parents in 9 short months! :)