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Wednesday, July 9, 2008

Scared to death

I got the call today that no one wants to get. My Quad Screening (or AFP test) came back positive for a chromosomal abnormality called Trisomy 18. It is similar to Down's Syndrome, but much less common and much more serious. In Down's, a child has three sets of the number 21 chromosome. In Trisomy 18, the child has three sets of the number 18 chromosome.

Trisomy 18 is not compatible with life, meaning most babies die in utero or before they are one month old. Most of those who do survive the first month don't make it to their first birthday. There have been some cases of children with Trisomy 18 who have made to their teenage years, but this is very, very rare.

A positive screening test does not mean the baby has Trisomy 18. Instead, it gives the risks for it. My baby has a one in 10 chance of having it. Dr. McGowen said that there are many false positives with this test, and I knew that going in. But, I still had to have it done. I wanted to be prepared.

One Web site I visited said only five percent of those with a positive will have a baby with Trisomy 18. Another said 11 percent, so I'm thinking it's somewhere between five and 11 percent of all positives are truly positive.

Dr. McGowen's office has gotten me an appointment with a perinatologist for a level 2 ultrasound. This ultrasound looks for soft markers, like clenched hands, rocker feet, certain types of cysts, heart and kidney abnormalities and excess amniotic fluid. If the baby has any of these markers, I will need to have an amniocentisis, which involves removing amniotic fluid from around the baby to test. The amnio is the only way to know for sure if the baby has a chromosomal defect.

I've heard the needle is very large, and the test is painful. However, I am debating about having the test done, even if their are no markers, just so I will know for sure.

My appointment is tomorrow at 12:15. It's a work-in. "B" is going to have to take off work to go, but I'm going to need him there.

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