RESUMO
Trisomy 12 mosaicism diagnosed at 16 weeks' amniocentesis in a 42-year-old woman was not confirmed at 18 weeks' gestational age in amniotic fluid or fetal blood. Fetal skin biopsy performed at the same time did, however, allow the detection of trisomy 12 in 1 of 14 fibroblasts analysed. Fetal skin biopsy can be included within the diagnostic procedures to be performed when a level III mosaicism is found in the amniotic fluid.
Assuntos
Cromossomos Humanos Par 12 , Feto/patologia , Diagnóstico Pré-Natal , Pele/patologia , Trissomia , Adulto , Líquido Amniótico/citologia , Biópsia , Amostra da Vilosidade Coriônica , Feminino , Sangue Fetal/fisiologia , Humanos , Valor Preditivo dos Testes , Gravidez , Pele/embriologiaRESUMO
Cytological and cytogenetic studies were performed on nucleated fetal cells present in chorionic villus transport medium. The erythroblastic origin of these cells was shown. Fetal erythroblasts in spontaneous mitosis were frequently observed; chromosome counts were obtained from them but poor quality often prevented banded analysis. Cytogenetic study of erythroblast metaphases can be useful as an additional diagnostic aid in cases of mosaicism with aneuploid cell lines.
