Thursday, January 22, 2015

sad news

We have some very sad news to share about our pregnancy. Our 19 week anomaly ultrasound suggested a possible chromosome issue, and subsequent genetic testing shows that our little baby has triploidy, a full extra set of chromosomes. This is a fatal condition that is usually miscarried much earlier in the pregnancy. Even in the unlikely event of a live birth, the expected life span is extremely short.

We did find out our baby's gender, and although I thought I'd find a creative way to share the news, my heart is just not really in it now. We are having a little boy.

Here's the long version of events:
Wednesday the 14th, we went to the doctor for our 19-week anomaly scan ultrasound. This hasn't been the smoothest pregnancy ever, so I've been anxious for this ultrasound to confirm the doctor's suspicion of a subchorionic hematoma, where a pocket of blood collects between the placenta and uterus. The scan took a long time. The technician spent a lot of time looking at the heart and asked some questions that worried me, like whether we'd had any genetic testing done. Afterwards, the doctor met with us and said that the ultrasound showed several problems. Thinking of my hematoma concerns, I thought she was talking about problems with me, but she clarified that they saw problems with the baby: multiple cardiac defects (VSD, TGA), a single umbilical artery (SUA), and possible problem with the hands. We learned later that they also reported issues with the brain and possible clubbed feet. All of this led them to suspect a chromosomal abnormality, so they recommended genetic counseling and an amniocentesis to confirm. We went home, called family, looked online for information, and cried... a lot. The most common chromosomal issues are Trisomy 21 (Down Syndrome), and Trisomy 13 and 18 which are considered "incompatible with life" diagnoses, resulting in miscarriages, still births, and babies who rarely live longer than a few days. Based on the ultrasound results, we were pretty convinced of a Trisomy 18.

Unfortunately, we weren't able to get an appointment with a perinatologist until Friday. We met with the genetic counselor and then had another ultrasound, first with a technician and then with the perinatologist. Surprisingly, his findings were different than the ultrasound from Wednesday. He did not see any major issues with the brain, heart, or feet, but did find the SUA, clenched hands, no stomach bubble, and wasn't able to see the end of the spine (possible spina bifida). The baby was also measuring a few weeks too small (IUGR). Despite the okay heart and brain, multiple issues still suggested a chromosomal abnormality, most likely Trisomy 18. We decided to proceed with the amniocentesis (ouch), expecting results early the following week.

All weekend, we tried to keep ourselves distracted. I had moments where I was relatively okay and moments where I was not. My parents visited to comfort us with hugs and prayers (and lots of food). Monday was a holiday, and Tuesday I decided to work from home, expecting our preliminary results from the FISH analysis. The genetic counselor called late morning to say the results were available, and Dan came home from work so we could hear the news together. I thought I'd gone through every scenario in my head, but was blindsided when she said the results showed triples of the 13, 18, 21, and sex chromosomes, suggesting triploidy which is a full extra set of chromosomes. It wasn't something we'd discussed as a possibility with the counselor or even come across during our hours of Internet searches. Most babies are miscarried in the first trimester, and the longest reported life was only ten and a half months. I was so worried that the preliminary test results would come back inconclusive and leave us even more worried until the full amnio results came back. This news was the opposite of inconclusive, and I was left with an odd sense of peace after so much uncertainty. We received the full amnio results today, confirming triploidy.

We really appreciate all the prayers and words of encouragement we've received so far. This is going to be an incredibly difficult experience for us and our families, but we know we'll get through this with everyone's support.

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