Our story so far: "My husband and I went in for our main ultrasound when I was 19 weeks pregnant. Everything looked great except for our little boy's heart. The doctor explained they could only see two chambers in his heart, and we were referred to a pediatric cardiologist for a fetal echocardiogram in 2.5 weeks. In the meantime, we went to see a perinatologist (in the same practice as the pediatric cardiologist) for another ultrasound and genetic counseling. The perinatolotist confirmed the original ultrasound finding, and told us he thought it was an AV canal defect. This means Owen has large holes separating the two sides of his heart, both in his atria and ventricles. Since AV canal is highly associated with Down syndrome, we had an amniocentesis performed that day. We met with a genetic counselor in the same practice, and although we have some family history of congenital issues, she assured us there was an extremely low probability that any of them were coming into play with our baby.
Then all we could do was wait. A little over a week later, the genetic counselor called me to let me know they had the results of our baby's chromosomal analysis. He did not have Down syndrome, but he did have some extra genetic material on chromosome 10. The lab should be able to determine where it came from. To aid them she wanted us to have blood drawn for chromosomal analysis as well, since he may have inherited it from one of us.
We went in a couple of days later for our fetal echo. The pediatric cardiologist explained that she believes he has an unbalanced AV canal defect and pulmonary stenosis. She detailed the open-heart surgeries he will need to help with this problem. However, the surgeries do not "cure" or "fix" his heart. They merely provide an alternate way for blood to flow through his body using the anatomy he has. She was careful to tell us that babies with chromosomal abnormalities "do not do well" in these types of surgeries, but she could not give us survival rates.
We also had our blood drawn and met again with the genetic counselor. She said the lab had determined that Owen's extra genetic material was an interstitial duplication of chromosome 10. It looks like the breakpoints are about q22-q23 or q22-q24 [After birth it was determined that the segment was actually q11.21-22.3]. She said she was able to pull five case reports of children with abnormalities similar to our baby's. We should expect that he will have growth retardation, mental retardation, and developmental delays. She also told us that children in those case reports tended to have club foot, cleft lip and/or palate, and colobomas. We left that appointment very nervous about our ability to have healthy children in the future.
A week later, she called us and relieved our fears: our chromosomal analyses were completely normal. Owen's duplication was spontaneous. Although the initial ultrasound revealing his heart defect was pretty shocking and upsetting to us, I wouldn't say we've been "devastated" by any of the news we've received so far. This is just one of those things that happen, and this time it happened to us. My mom keeps asking me to buy her a lottery ticket.
We don't really know yet what to expect or what the plan will be once Owen is here. Lots of the time with "heart babies" there's no way to know the full extent of their problems until they're born. The cardiologist still isn't 100% positive that she has seen everything that's wrong, so we will be having several more ultrasounds, both to assess his heart and to monitor his growth. We will be meeting with the cardiothoracic surgeon after our next appointment. He is the one who should be able to quote us survival rates for the surgeries and describe prognosis and quality of life.
Obviously, none of our doctors have ever seen this combination of defects before, so it will always be a wait-and-see situation for our little guy. We're sure he will always be forging his own path anyway. We are thankful to have any time we get with him; no matter what we will love him as much as possible for as long as he lives."
|Birth Date||Apr 2, 2008|
|Diagnosis||Proximal Trisomy 10q (q11.21-22.3) de novo|
|Parents||Mark and Adrienne Frossard|
|City||Zionville, IN, USA|
|afrossard[at]riverview[dot]org (change [at] to "@")|