Prenatal diagnosis of mosaicism for trisomy 2 in a single colony at amniocentesis in a pregnancy with a favorable outcome

A 36-year-old, gravida 3, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes revealed a karyotype of 47,XY,+2[1]/46,XY[21]. Among 22 colonies of cultured amniocytes, one colony had three cells, and all cells of this colony had the karyotype of 47,XY,+2, whereas the other 21 colonies had the karyotype of 46,XY. Level II ultrasound findings were unremarkable. Repeat amniocentesis was performed at 23 weeks of gestation.
Source: Taiwanese Journal of Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Research Letter Source Type: research