Prenatal cytogenetic diagnosis from fetal urine in lower urinary tract obstruction

Abstract

The aim of this study was to test if prenatal cytogenetic diagnosis can be performed on fetal urine in fetal lower urinary tract obstruction. In this retrospective cohort study of fetuses with lower urinary tract obstruction (LUTO) over a 4-year period at one institution, cytogenetic evaluation was attempted on fetal urine samples as well as amniotic fluid specimens. A total of 11 cases, ranging in gestational age from 15 to 25 weeks, underwent amniocentesis and vesicocentesis. Traditional cytogenetic evaluation was successfully completed in amniotic fluid and fetal urine samples in all 11 cases (100%). The karyotype was normal in seven (64%), trisomy 21 in two (18%), Trisomy 13 in one (9%), and partial chromosome 4 deletion in one (9%). Traditional cytogenetic evaluation can be successfully performed on fetal urine samples in cases of lower urinary tract obstruction. © 2012 Japanese Teratology Society.