With a full trisomy 13 diagnosis, and almost 100% of April Rey’s cells representing the chromosomal abnormality, it seems like a straight forward diagnosis. And, for the most part it is. Trisomy 13 is a fatal condition that typically involves severe intellectual disabilities along with physical defects and most major organs impacted. It’s devastating.
Many parents have NO idea that their child has this condition until they are born. It doesn’t always show up on ultrasounds. And without any indication on an ultrasound, or any high risk factors being flagged, there’s no reason to do DNA testing, or diagnostic tests like an amniocentesis.
We very well could have been in this situation. I am 33 years old, so not to the age of 35 where they start recommending additional testing. Our ultrasound images so far (at 15 weeks) look beautiful.
If you’ve been following this journey with us, you’ve heard why we were tested, but just a quick recap:
– We did the nuchal translucency test that was offered at 12 weeks. It’s a standard test with an ultrasound and blood work. This test came back with the blood work indicating a higher than normal risk of Down Syndrome (1 in 77 chance).
– At that point, the DNA testing was recommended and mostly covered by insurance, so we went forward with this blood test as well just to get more information.
– The DNA test came back with no risk of DS, but a high risk for trisomy 13
– We then did an amniocentesis to get a diagnosis from the fetal cells. The amniocentesis came back positive for trisomy 13 (preliminary workup showed the abnormality in 97.5% of her cells).
So at this point we have a positive amnio indicating devastating news, coupled with an ultrasound that looks beautiful and shows no abnormalities.
Now, this doesn’t mean that the abnormalities aren’t there. It is early to tell on an ultrasound and, as mentioned above, the abnormalities don’t always show up on ultrasounds for some reason. As our genetic counselor put it “chromosome 13 is finicky and is one that is often unreliable to show on an ultrasound”.
Our advantage is that we know that we are looking for something, however. So we can have ultrasound after ultrasound, and just keep looking. We can potentially see something that may have otherwise been missed.
But the clean ultrasound leaves doubt in my mind at the moment. While I know in my heart (and my husband as well), that we’d terminate if we truly have a devastating diagnosis, we struggle with the fact that we can’t visibly see any defects to back up the findings on the amniocentesis.
And on top of that, there is a little miracle baby out there whose mom recently reached out to me and shared their story. She had the same diagnosis (full trisomy 13, amnio results indicated 100% of cells affected, and her ultrasounds were beautiful). Their baby girl is now 1 year old, and has reached all of her normal 1 year old milestones just fine! She’s not had any scans or anything, but also hasn’t had any issues with any organs, no physical handicaps, etc. She’s a walking, talking, so far healthy and strong little girl. This isn’t just a child that is alive and having surgery after surgery… she’s physically normal, and so far keeping up with all normal developmental milestones. Talk about an amazing story, and a true miracle child. If anything puts doubt in your mind about your own diagnosis…this is the story that would do it!
And so, while we know we want to spare our child any pain, and we would not undergo any life saving measures to her prolong life, we are now torn in our decision. If we knew for sure that April had a devastating outcome ahead, we’d spare her the pain and terminate. Her organs can’t be donated. There is no reason to prolong the decision and carry to term, except to meet her. We don’t want to put her through that. So terminating early is the option we’d choose.
There’s this unknown, though. This doubt in our minds… what if she’s the miracle baby? What if her ultrasounds don’t show anything wrong, because there isn’t anything wrong? What if?
So we have a plan. Our plan is to get as much information as we can. To arm ourselves with all the data in the world so that we can be at peace with any decision we make. We may go broke getting test after test, but it is worth every penny, every minute spent. Every bit of information that we can get, is a piece of the puzzle and will hopefully help make our decision and path more clear.
We can terminate at any time in the pregnancy. There is no rush to come to a decision. We can take our time and make sure it is the right decision for us. We are going to take it week by week. We’ll get weekly ultrasounds, and we’ll see what we find.
In addition to getting ultrasounds done, we spoke with our genetic counselor will be scheduling a fetal MRI. The genetic counselor suggested it before I could even request it. She knew just the right path for us, and I am so thankful to have her in our corner. The fetal MRI will give us a clearer picture of all anatomical structures, including the brain, and will hopefully shed some light on our daughter’s condition. We were told that these procedures are not done until after the 17th week of pregnancy just based on the baby’s development.Tomorrow, I’ll be 16 weeks, so we’ll most likely be getting this done in a couple of weeks. Until then, we’ll wait, and perhaps have an ultrasound done just to take another look.
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