In the following weeks, the Perinatologist recommended that we do genetic testing to rule out any other issues that we could potentially run into. We could either do an amniocentesis or do a blood draw. Due to the high risk of an amnio, we decided a blood test would be the best and if something more needed to be done, then we would reconsider the amnio.
At the beginning of October, I went for the blood genetic testing, We patiently waited on our results. We did not expect anything out of the normal to show up, but with the way our days have been going of course the test found something. The blood test came back showing signs of Trisomy 16. If you are not familiar with genetics, I will be giving a brief explanation of what this is.
Humans a total of 46 chromosomes. Each person is given 23 chromosomes from Mom and 23 chromosomes from Dad which gives you 23 pairs of chromosomes. When one of those pairs has an extra strand, then that is what is known as trisomy (three copies of chromosomes instead of two). Each chromosome has a reference number 1 - 23 which will give rise to different birth defects. There are three major chromosomes that are widely checked, 13 (Patau's syndrome), 18 (Edward's syndrome) and 21 (down syndrome). Most people are familiar with Trisomy 21 due to it being known as down's syndrome. Trisomy 16 is not very well known or have had a lot of studies. Not many people have been diagnosed with this genetic condition. The reason, full trisomy 16 is not compatible with life. From what was explained to me, most miscarriages are due to trisomy 16 and the baby will not live past the first trimester. The doctor ruled this likelihood out since we were well into our second trimester and she is doing very well except for the CHD. The Perinatologist provided us with two instances why this was flagged on our blood draw. The first is that the baby could have trisomy 16 mosaicism, This would mean the baby has an extra chromosome copy somewhere in the body but does not effect all of the cells. The second option is that it is just confined to the placenta which would effect her growth rate. Her recommendation, amniocentesis.
John and I discussed this in length. Would performing an amniocentesis help us in any way, what risks are we at now with knowing all of her conditions, is it something that we have to know are just some of the questions we were faced with. We decided to see a genetic counselor to help us make this decision. Unfortunately, this did not go as planned. The counselor could not provide us with any more information than what we have already gathered. It is such a rare genetic marker to find late pregnancy, they were shocked to see we were flagged. They also recommended we do an amnio to provide answers. We decided to go ahead and have the amnio because I needed to know what we were going to deal with and if this would complicate her delivery anymore that what it is. On October 23, one month exactly after finding out about her CHD, we had the amnio.
We were informed that the amnio FISH results would be provided within 24-48 hours to come back, the final results would take anywhere between 7 - 14 days to receive back.. We received a phone call the next day with the FISH results, the initial results were positive. No genetic flags showed up, meaning she did not have full trisomy 16, 18, 21 or 13. We were ecstatic to hear this but we already knew she did not have full trisomy 16 but we counted our blessings because that meant she did not have any of the others as well.
We patiently waited for the final results. I was on edge the whole time while waiting. I had more patience though than others who were constantly asking me for the final results. I do understand that people are praying for us and want to be kept in the loop with everything but to add more pressure and anxiety to this situation is not helpful and not what I needed on top of everything else. I was accused of being inconsiderate for not giving out results right away and making people wait. If that is how people want to perceive me than I will let them. This is something for my husband and I to have time to adjust to either the good or bad news. We needed time to ourselves first before sharing. People were checking in almost everyday since we had the procedure done and it just added so much more stress to an already stressful situation. People did not understand that it could take up to 14 days to here back plus to add in time for us to adjust to what news there was. Finally the wait was over.
I received the best birthday present last week. On Wednesday, November 4th, the final results were in and we have a genetically normal baby girl! We were elated to get the news. I was tearing up when the doctor told me over the phone just because of everything that was bottled up emotionally on the inside and getting news that was good for once. I went ahead and shared this information with our immediate family so that they would know. I could not contain my happiness. That quickly faded as I was informed also that I had failed my 1 hour glucose test and I would need to have the 3 hour testing. What more could be thrown at me.
All the while I am continuing getting my weekly ultrasounds of fluid/doppler scans weekly and growth/fluid/doppler scans bi-weekly. Each week I go in and each week I am cleared to go home and she is clear to stay in utero. I am very blessed each week this happens because it helps her grow more on the inside and keeps her protected. This past Friday, the ultrasound tech surprised me and did a quick 3D ultrasound to get a profile view of our little Rebecca. She already reminds me of her older sister, Annabelle. This was very thoughtful and I am very appreciative of the tech for doing this.
Rebecca continues to thrive for the time being on the inside. We have not had any scares from the ultrasound and will continue to go weekly to watch her and any signs of distress. I also met with my new doctor this week and she suggested that I have a bag packed and a plan in case I need to be monitored more closely whether that means in hospital or living closer to Good Samaritan hospital in Cincy. As I am supposed to be enjoying my last few months of pregnancy, I am planning for a hospital stay/early delivery as a precaution. If that is what is needed to help Rebecca, then that is what I will do. My only hope is that Annabelle will understand later in life and that I will not blame myself for missing out on her every day adventures. I feel like I am already missing so much just because of all the appointments/monitoring that have been going on to my blood pressure and swelling and trying to keep that under control.
This month and a half has literally been a roller coaster and I have some good days and I have some really bad days but that is to be expected. I am allowed to have those bad days and I am allowed to be sad. It is not an easy process and there is no instruction manual in life for what we are going though nor will there be one once Rebecca makes her debut. We can only hope and pray that each decision we make is the right one not only for her but for us as a family.
