DAVID'S FIGHT (w/Trisomy 18): The First Sonogram

Thursday, February 17, 2011

The First Sonogram

February 11th, 2011
Today we had our first sonogram. It's a boy! Very excited. The doctor's however have some concerns about our baby...some concerns with his heart and the umbilical cord. We'll find out more after the blood work comes in. Very exciting day!
- Aaron's Journal Entry

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Edwards Syndrome : Edwards Syndrome (Trisomy 18) is a chromosomal abnormality where there is an extra chromosome present in every cell of the body. This is an example of where “the more the merrier” is not true. This extra chromosome means that every cell has extra information encoded into it. The extra information causes confusion in the way that the cells are formed and results in the potential malformation of all of the body systems. Sadly, this condition is considered "not compatible with life". Just like with Down's Syndrome (Trisomy 21), there is a wide range of how this condition will play out (what the doctor's will refer to as your child's phenotype). Unfortunately because there is more information encoded on the 18th chromosome, the severity of this condition is greater than that of Down's Syndrome. Current studies show that while 1:1500 children will be diagnosed prenatally with trisomy 18, only half that number (or 1:3000) will be born alive at full term. Of those who survive to birth, only half will make it to two months of age, and only 10% will survive to their first birthday. Children who live can be an important part of their family and community, but are profoundly developmentally delayed.

Thursday, February 17, 2011

The First Sonogram

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