FAQ - Gonadal Dysgenesis
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Amniocentesis Q????????


How accurate is amniocentesis? When I was pregnant I was told by my OB doc that there was a possibility that my baby had trisomy. They weren't sure which kind he had or if he actually had one.(my quad test came back abnormal and they said that given my age and family history that this was rare to happen unless there was actually something wrong). We had an amniocentesis done and the results came back fine. I had other complications during my preg which include being dizzy alot, blackouts, peeing blood (they never did figure out why.) preterm labor 3 times. (Which they were able to stop everytime). Now my son is 8 months old was diagnosed with trigonocephaly which is a type of craniosynostosis, its where the skull closes too early usually during pregnancy making it so the brain keeps growing but the skull doesn't putting pressure on the brain. It is also called c syndrome. It is a chromosonal defect that causes this. The syndrome is thought to be caused by gonadal mosaicism. The most common form of mosaicism found through prenatal diagnosis involves trisomies which would lead back to my tests coming out saying my son has a type of trisomy. Then while doing research on the computer I came across trisomy 9 which one of the symptoms is dysmorphisms in the skull, which is the premature closure of the skull. Other symptoms include underweight, bulging eyes, slow motor skills. My son has all these. He doesn't laugh or make baby noises. He is very underweight. His eyes bug out and everything. We are still going through testing with him. My question is, is it possible the amnocentesis could have not detected or was wrong about the trisomy or am I being paranoid. I just want to know exactly what is wrong with my baby and trigonocephaly is not something that just happens at random to any one it is a birth defect and is chromosome defect.
Here is a website describing C Syndrome a little better than I could
http://children.webmd.com/c-syndrome
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The amnio should ave shown a trisomy if it was done correctly. After the amnio sample is taken, they should have isolated the 23 pairs of chromosomes that all humans should have, and layed them out on a karyotype. With a trisomy, that means they would have been an extra chromosome (in which you said trisomy 9 means there would be 3 number 9 chromosomes when there should have been 2) Amnios should also show abnormal chromosomes in which there may be deletions, repetitions or other abnormalities on the acual chromsome. All of this should be apparent from the amnio, so they should have known if your son had a trisomy so there is a posibility he does not. Hope this helped some! Take care! Hope you get the answers you need.  (+ info)

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