Prenatal diagnosis of chromosome abnormality by amniocentesis, and its problem related to misdiagnosis.

概要

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Prenatal diagnosis of chromosome abnormality has been carried out in our hospital in pregnant women for various medical reasons. Amniocentesis was done at 16-17 weeks of gestation, and chromosome examination was performed in amniotic fluid cells cultured for 10-14 days in vitro. We prenatally diagnosed chromosome abnormalities in 16 cases out of a total of 210 cases examined so far. Those were 8 cases in the higher maternal age group, 6 cases in the translocation carrier group, and 2 cases in the miscellaneous group. We selected and described 5 cases of them, in which interpretation of chromosomal findings was fairly difficult or apt to lead to a misdiagnosis.We discussed that reliability of chromosomal diagnosis was very high, but misdiagnosis due to mosaicism, maternal cell contamination, and micro-level chromosome abnormality was inevitable in the material of cultured amniotic cells. We stressed here the importance of mutual reliable relationships among patients, doctors, and chromosome examiners to prevent troubles and smolderings
一般社団法人国立医療学会の論文