title: Congenital perineal hernia in a fetus with trisomy 18.
abstract: Perineal hernias are very rare and mostly reported in adults, with only 7 cases reported in children. We report a female fetus, terminated at 18 weeks of gestation due to trisomy 18. In addition to multiple typical findings of trisomy 18, this fetus had perineal hernia with defect of the perineal skin and prolapse of multiple bowel loops. To our knowledge there are no reported cases of perineal hernia presenting antenatally nor are there reported cases of perineal hernia associated with trisomy 18.
authors.affiliation: Department of Pathology, University of South Florida and Tampa General Hospital, Tampa, Florida 33606, USA.
authors.forename: Thora S
authors.initials: TS
authors.lastname: Steffensen
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
authors.forename: Enid
authors.initials: E
authors.lastname: Gilbert-Barness
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002887:Chromosomes, Human, Pair 18; D017809:Fatal Outcome; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006547:Hernia / Q000151:congenital*; D006801:Humans; D010502:Perineum / Q000002:abnormalities*; D011247:Pregnancy; D014314:Trisomy; D016216:Ultrasonography, Prenatal