title: Prenatal diagnosis of congenital diaphragmatic hernia in a McFadden Kalousek type 2 triploid fetus.
abstract: Triploidy is characterized by an extra haploid set. We report a rare case of a prenatally diagnosed digynic type (McFadden/Kalousek type 2) triploid fetus with congenital diaphragmatic hernia (CDH). Prenatal ultrasonographic examination allows reliable detection of CDH and it is therefore of great importance for proper parental counselling, as well as performing fetal karyotype for associated chromosomal anomalies.
authors.affiliation: Genetica Medica, Dipartimento di Pediatria, Università di Catania, Catania, Italy. debastiano.bianca@tiscalinet.it
authors.forename: S
authors.initials: S
authors.lastname: Bianca
authors.forename: G
authors.initials: G
authors.lastname: Ettore
authors.forename: G
authors.initials: G
authors.lastname: Gullotta
authors.forename: M G
authors.initials: MG
authors.lastname: Galasso
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D005260:Female; D005317:Fetal Growth Retardation; D005865:Gestational Age; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging* / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D008297:Male; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis*; D016216:Ultrasonography, Prenatal