normal amniocentesis result does not mean fetus has no genetic disease# NextGeneration - 我爱宝宝
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Amniocentesis analysis can only check the karyotype of fetus. It can only
diagnose aneuploidy like tri18, tri21,tr13,Tunner syndrom(45,X0),Klinefelter
syndrome(47,XXY), and some large chromosomal abnormalities. There are tons
of genetics disease out there that can not be diagnosed by amnio because the
disease-causing mutations are too small to be detected only by karotype
analysis, for example, single nucleotide mutation, small deletion and
duplication, gene copy number variations etc.
So, norma
diagnose aneuploidy like tri18, tri21,tr13,Tunner syndrom(45,X0),Klinefelter
syndrome(47,XXY), and some large chromosomal abnormalities. There are tons
of genetics disease out there that can not be diagnosed by amnio because the
disease-causing mutations are too small to be detected only by karotype
analysis, for example, single nucleotide mutation, small deletion and
duplication, gene copy number variations etc.
So, norma