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Thursday, July 20, 2017

Trisomy 13- April Rey's 17 Week Anatomy Scan

 
Today we had our anatomy scan. This appointment has been scheduled for awhile- long before we even knew that April had trisomy 13. I wasn't sure what to expect, honestly. April's ultrasounds have looked beautiful thus far, and as I've discussed previously, trisomy 13 babies often don't show abnormalities on ultrasounds- especially at this early gestational age.

I figured we'd continue to see good ultrasounds for awhile longer. I was so very wrong...

Today, we started seeing significant defects on her ultrasound images, and also received our final amniocentesis report.


The amniocentesis report showed 100% of April's cells presenting with an additional copy of chromosome 13. April has full trisomy 13- mosaicism and translocated chromosomes were ruled out.

On her ultrasound, calcifications were seen throughout her heart. She also has a hole in her heart. As typical with trisomy 13, she is showing extra digits, and her kidneys are not forming correctly. Brain and neurological defects cannot be seen this early. The findings will only increase with time and her scans are already showing a devastating outcome for her.

My husband and I are following up with Hopkins, where we will have our induction. Most likely we will be inducing in the next few weeks. We are still searching for an organization that will accept April's body as a donation towards scientific research. Hopefully we will be able to find a good cause to donate her body to.

While none of this news was shocking, since we already had our preliminary (FISH) amnio results, it is really setting in as reality now. We now have a very clear path that we can follow, and while we are beyond devastated at our news and the outcome, we will take comfort that we spared April any pain and suffering. We will take comfort in her body being used to further science...somehow someway we will make this happen. April Rey is forever our strong, beautiful daughter and will live on in our hearts. I write this through my river of tears and so wish there was something I could do or could have done for my baby. I feel so helpless. I'll update again soon. Please keep April in your thoughts.

Visit the trisomy 13 page, for all of the posts on April Rey and trisomy 13.




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