Aa
Blood Results - sorry so long
This isn't a question, I just wanted to share some good news.
When I had the anatomy ultrasound they told us that our little girl had a calcium deposit on her heart. They weren't very concerned but they did mention that it can be associated with downs syndrome. I never had any early screenings so we weren't sure of my odds. I'm only 27 so they said it was unlikely. I saw a genetic counselor because of this and because my 8 year old daughter has a congenital adrenal disorder that causes her to be dependent on hydrocortisone for the rest of her life. Her body doesn't make cortisol which is a necessary hormone to live. This baby has a 1 in 4 chance of having the disorder also and a 2 in 4 chance of just being a carrier. Anyways, the bad part is we can't test for it until this baby is born which may not tell us anything. My daughter tested negative for it at birth because she has the late onset form of it. They routinely test newborns for it at birth in the US. The good news is, if this baby does have it, it could not be any worse than the form my daughter has and we could live with that if it happens. Apparently, both parent have to carry the gene in order for the child to have it. If the child has it, it takes the milder gene out of the two parents. There are many forms of it and my daughter's form is in between the mildest form and the most severe form.
So anyways, about the calcium on the baby's heart. They suggested I do the maternal21 blood test just to be sure the baby doesn't have a chromosomal abnormality. Just got the result and it came back definitely negative and positively a GIRL. This is good news.. One less thing to worry about. If she ends up having the adrenal disorder, it's not the end of the world. We will get thru it. :-)
When I had the anatomy ultrasound they told us that our little girl had a calcium deposit on her heart. They weren't very concerned but they did mention that it can be associated with downs syndrome. I never had any early screenings so we weren't sure of my odds. I'm only 27 so they said it was unlikely. I saw a genetic counselor because of this and because my 8 year old daughter has a congenital adrenal disorder that causes her to be dependent on hydrocortisone for the rest of her life. Her body doesn't make cortisol which is a necessary hormone to live. This baby has a 1 in 4 chance of having the disorder also and a 2 in 4 chance of just being a carrier. Anyways, the bad part is we can't test for it until this baby is born which may not tell us anything. My daughter tested negative for it at birth because she has the late onset form of it. They routinely test newborns for it at birth in the US. The good news is, if this baby does have it, it could not be any worse than the form my daughter has and we could live with that if it happens. Apparently, both parent have to carry the gene in order for the child to have it. If the child has it, it takes the milder gene out of the two parents. There are many forms of it and my daughter's form is in between the mildest form and the most severe form.
So anyways, about the calcium on the baby's heart. They suggested I do the maternal21 blood test just to be sure the baby doesn't have a chromosomal abnormality. Just got the result and it came back definitely negative and positively a GIRL. This is good news.. One less thing to worry about. If she ends up having the adrenal disorder, it's not the end of the world. We will get thru it. :-)
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