title: [Fetal diaphragmatic hernia. Clinical and prognostic considerations and early diagnosis].
abstract: Fetal diaphragmatic hernia depends on a retarded closing during the first trimester of pregnancy of embryological structures in the chest that lead to the formation of diaphragmatic muscle. The defect occurs in form 1:2,000 to 1:5,000 livebirths and it is associated with other structural abnormalities (neural tube defects, cleft lip/palate, omphalocele, cardiopathy, etc). In 20% of cases it is associated with a chromosomal syndrome. Antenatal ultrasonic diagnosis has been reported, at 18-40 weeks of pregnancy. We describe a case of early diagnosis, at 17 weeks of pregnancy, of fetal diaphragmatic hernia by ultrasound. Plexus choroid cysts were detected too and fetal karyotyping resulted 47XX + 18. Prognosis of pregnancy in all cases of fetal diaphragmatic hernia is poor because fetal and neonatal losses are very heavy.
authors.affiliation: Cattedra A di Clinica Ostetrico-Ginecologica, Università degli Studi di Torino.
authors.forename: B
authors.initials: B
authors.lastname: Mimmo
authors.forename: G F
authors.initials: GF
authors.lastname: Boggio
authors.forename: E
authors.initials: E
authors.lastname: Gullino
authors.forename: M
authors.initials: M
authors.lastname: Pagliano
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D011379:Prognosis; D013997:Time Factors; D016216:Ultrasonography, Prenatal
vernacular_title: Ernia diaframmatica fetale. Considerazioni clinico-prognostiche e diagnosi precoce.