How accurate are amniocentesis??? Can they be wrong?

[#1 baby due 6/20/09]

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 defectHere is a website describing C Syndrome a little better than I couldhttp://children.webmd.com/c-syndrome

 

[!!!#!(**]

Sorry sweetie, Amnio doesnt detect everything:Amniocentesis does not detect all birth defects, but it can be used to detect the following conditions, if the parents have a significant genetic risk: Sickle cell disease Cystic fibrosis Muscular dystrophy Tay-Sachs disease Amniocentesis also can detect certain neural tube defects (development disorders of the brain and spinal column) such as spina bifida and anencephaly

 

[!P4Kii ~n~ PR0UD!]

Tough question. Wikipedia says "The most common abnormalities detected are Down syndrome, Edward syndrome [Trisomy 18] and Turner syndrome [Monosomy X]."So it sounds like not every syndrome is detected. Lots of times I have seen an abnormal quad screen, and then we find something odd on ultrasound, but there are too many syndromes to be able to diagnose before baby is born. I think diagnosing your child may take longer than you would like to wait simply because syndromes are very complex things and there are so many of them. Good luck.

 

[!Miette,]

Sadly an amniocentesis does not detect everything. I'm having an ultrasound on the 17th because they are cornered of the high levels of spina bifida. After they do the ultra sound and come back with the results I can still go for the amniocentesis. They have told me nothing is guaranteed. They may find something and they may not.I have 1 child who is healthy and have no one in the family who has anything like this. The only thing that is in the family is my boyfriends sister has a 15 year old child with Autism. Sorry I couldn't be more helpful.