Prenatal diagnosis of rare form of chromosomal abnormality: double trisomy 48,XXX,+18 in the first trimester in association with spina bifida

Abstract

The case of prenatal diagnosis of neural tube defect at 11+5 weeks of gestation is presented. Chorion villus sampling performed. Karyotyping revealed double trisomy (48,XXX,+18). Termination of pregnancy was performed at 13 weeks of gestation.