We were told that there was partial missing information on chromosome 18 in 3 of 15 tested cells. They don't know what info was missing nor which cells it was missing from. So this means the child might be normal, might have dry skin, might be deformed, retarded, have kidney disorder, etc. We are now scared to death but don't feel we have clear enough info to consider terminating the pregnancy. HELP!
Is anyone knowledgable about abnormal amnio results and their reliability?
What about a second amnio? I don't recall reading anything about 2nd amnios, but is that out of the question? How do they know they just didn't screw up the test somehow? Definitely call your doctor back...these are really huge decisions to be asking a bunch strangers who may or may not be half wits. Myself included in the later.
Reply:Yeah... if its possible, get a second anmio. Usually animo's are pretty reliable (although NOTHING is 100%). If there are chromosomes missing then yes.. that would mean mental retardation... pretty severe too if three are missing. I know one chromosome missing is what leads to Down Syndrome... not sure about three. Definitly try to get a 2nd test because theres a chance it was wrong or someone doesnt know how to read it. I would suggest an amnio and an ultrasound... sometimes ultrasounds can detect deformaties. And you will have until 22 weeks to terminate if something is severely wrong *I think its 22 weeks anyways...*. Good luck and I hope the test was just wrong.
Reply:Can't do a second test..its too dangerous, but you could have a second reading of the results. Go talk to someone who specializes in genetics.
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