title: Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling.
abstract: Trisomy 22 mosaicism diagnosed at 20 weeks' gestation by amniocentesis in a 35-year-old woman was not confirmed by fetal blood sampling. Subsequent fetal skin biopsy revealed trisomy 22 in 7 of the 15 fibroblasts analysed. We conclude that, depending on the chromosome involved, fetal skin biopsy should be considered in the diagnostic work-up when mosaicism is found in amniotic fluid.
authors.affiliation: Department of Obstetrics and Gynecology, Jefferson Medical College, Thomas Jefferson University Hospital, Philadelphia, PA, USA. berghell@jeflin.tju.edu
authors.forename: V
authors.initials: V
authors.lastname: Berghella
authors.forename: R J
authors.initials: RJ
authors.lastname: Wapner
authors.forename: T
authors.initials: T
authors.lastname: Yang-Feng
authors.forename: M J
authors.initials: MJ
authors.lastname: Mahoney
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D001706:Biopsy; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D005865:Gestational Age; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000196:embryology*; D014314:Trisomy