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Showing posts with the label Mosiac Trisomy 15

Jasmine's Story

We found out we were pregnant with Jasmine a few months after a failed fertility treatment.  We had done a treatment that was successful, but then ended in miscarriage.  My HCG levels were falling, but then started rising again, so I had to take a shot of methotrexate.  This meant we had to wait at least three months before trying again.  I found out I was pregnant with her a couple of months after the waiting period was over. I went to my RE for beta levels and everything was rising and doubling perfectly.  All my early ultrasounds with him looked great and she was growing normally and right on track.  I had my first appointment with my OB and everything looked fine on that end as well. It came time to do the NT scan and genetic testing.  They no longer did the NT scan in their office and they referred me out to an MFM to get it done.  We went to the appointment and the tech did the scan.  She showed us the things we were lookin...

CDH and Mosiac Trisomy 15

As I mentioned before, our daughter Jasmine had been diagnosed at our 12 week ultrasound with CDH (congenital diaphragmatic hernia).  I had never even heard of this before she was diagnosed (even though I later found out there is just as many cases of this per year as cystic fibrosis and spina bifida).  Crazy that it was the only one of the three I hadn't ever heard of.  The cause of CDH is not really known as it seems to sometimes have a genetic component and sometimes it is random.  We were told that they have found links to CDH on every single one of the chromosomes, so they can't even narrow down exactly what causes it.  It is one of those things that many people are told has a 50% survival rate at best and prospects seem bleak.  But there are several specialist locations around the country that focus on CDH and have drastically improved those survival rates. The other issue we were dealing with was mosaic trisomy 15.  This is extremely rar...