Prenatal confirmation of trisomy 12 mosaicism by fetal skin biopsy |
| |
| Authors: | Rosa Cartolano Silvana Guerneri Roberto Fogliani Andrea Galimberti Umberto Nicolini |
| |
| Institution: | 1. I Clinica Ostetrico-Ginecologica, University of Milano, via Commenda 12, 20122 Milano, Italy;2. Laboratorio di Citogenetica, Istituti Clinici di Perfezionamento, via Commenda 12, 20122 Milano, Italy |
| |
| Abstract: | 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. |
| |
| Keywords: | Fetal skin biopsy Amniotic fluid mosaicism Amniocentesis Trisomy 12 |
|
|
