I am currently 12wks pregnant and will have an amnio done in 4 wks. Our daughter was stillborn in Sept '09 her amnio came back clear. Does this mean that her chromosomes were fine, no genetic defects of any kind found? I am not sure what to ask regarding this baby's health as we don't have the results of the autopsy as of yet. We think it may have been Meckel-Gruber, but with the amnio being clear, we are confused. Any information you could offer us would be a great help.
An amniocentesis enables the evaluation of genetic problems at the chromosome level (the large aggregates of genes that are found in every cell of the body: 46 chromosomes in all). In general, a karyotype analysis (evaluation of the chromosomes) cannot pick up smaller single gene defects. Therefore, a normal amniocentesis is reassuring, but it does not guarantee that there is no underlying genetic problem.
There are more specific tests for some known single gene defects available if the suspicion is high for a given disease.
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