title: Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow.
abstract: We report a case of the prenatal diagnosis of trisomy 8 in a fetus presenting with normal nuchal translucency of 0.8 mm and reversed end-diastolic ductus venosus blood flow at a routine first-trimester scan at 11 weeks of gestation. No structural abnormalities were detected by the ultrasound scan. Karyotyping by chorionic villus sampling led to the diagnosis of mosaic trisomy 8, which was confirmed by fluorescent in-situ hybridization on fetal tissue samples.
authors.affiliation: Fetal Medicine Unit, St. George's Hospital Medical School, Royal Brompton Hospital, London, UK. campbell@sghms.ac.uk
authors.forename: S
authors.initials: S
authors.lastname: Campbell
authors.forename: E
authors.initials: E
authors.lastname: Mavrides
authors.forename: F
authors.initials: F
authors.lastname: Prefumo
authors.forename: F
authors.initials: F
authors.lastname: Presti
authors.forename: J S
authors.initials: JS
authors.lastname: Carvalho
mesh_terms: D000328:Adult; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000175:diagnosis*; D009333:Neck / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D014314:Trisomy / Q000175:diagnosis*; D016216:Ultrasonography, Prenatal