We got a call today from the geneticist that we met with during our first appointment. She was the one that explained what an amniocentesis is (where they take fluid from around the baby) and why it would be recommended in our situation. Basically when an amino test is preformed the doctors are able to check all the chromosomes of the baby and look for any abnormalities. With the condition of Max's heart the doctors want to know if they are dealing with a genetic problem (hence the amnio test), a congenital heart defect (a defect in the structure of the heart), or a combination of both.
The "best" situation would be a congenital heart defect because that would mean it was only going to effect Max physically and would have a higher chance of being "fixable." If there is a problem with his chromosomes then there would probably be other side effects- mental retardation, other physical challenges, etc. It takes 2 weeks for all the chromosomes to be checked but they are able to check the main chromosomes in a matter of 24 hours. The test to check the main chromosomes is called a FISH screen. The main chromosomes they check are 21, 18 and 13. Problems with #21 are what cause Down's Syndrome. And I attached a link to a page that explains side effects of problems with #18 and #13.
Max's results for #21, 18 and 13 were all negative!!! There are still all the other chromosomes to check but it was nice to hear some good news.
http://pedclerk.bsd.uchicago.edu/chromosomalabnormalities.html
The "best" situation would be a congenital heart defect because that would mean it was only going to effect Max physically and would have a higher chance of being "fixable." If there is a problem with his chromosomes then there would probably be other side effects- mental retardation, other physical challenges, etc. It takes 2 weeks for all the chromosomes to be checked but they are able to check the main chromosomes in a matter of 24 hours. The test to check the main chromosomes is called a FISH screen. The main chromosomes they check are 21, 18 and 13. Problems with #21 are what cause Down's Syndrome. And I attached a link to a page that explains side effects of problems with #18 and #13.
Max's results for #21, 18 and 13 were all negative!!! There are still all the other chromosomes to check but it was nice to hear some good news.
http://pedclerk.bsd.uchicago.
1 comment:
Mary and Spencer,
What an excellent way to help us understand what is going on with Max's heart, and what a great testament to his parents to have this open and loving blog dedicated to Max. Your descriptions enlighten us all and give voice to Max's situation. Very cool stuff here. Thank you for sharing and we send all our love and prayers your way.
Love, Doug and Isabel
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