title: Alagille syndrome: prenatal diagnosis and pregnancy outcome.
abstract: The Alagille syndrome (AGS) is a multisystem autosomal dominant condition. In this case report, we describe a pregnant woman with this unusual disorder, in whom serial fetal sonography revealed severe pulmonary stenosis and progressively severe intrauterine growth retardation, suggesting that the fetus also had AGS, a diagnosis which was confirmed postnatally. In this report, the potential complications for pregnancy, labor and delivery when both mother and fetus are affected with AGS are described.
authors.affiliation: Department of Gynecology and Obstetrics, Johns Hopkins Hospital, Johns Hopkins University School of Medicine, Baltimore, MD 21287-1228, USA.
authors.forename: F
authors.initials: F
authors.lastname: Albayram
authors.forename: K
authors.initials: K
authors.lastname: Stone
authors.forename: D
authors.initials: D
authors.lastname: Nagey
authors.forename: K B
authors.initials: KB
authors.lastname: Schwarz
authors.forename: K
authors.initials: K
authors.lastname: Blakemore
mesh_terms: D000328:Adult; D016738:Alagille Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D004247:DNA / Q000032:analysis; D036861:Delivery, Obstetric; D004452:Echocardiography; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D020567:Fetal Weight; D017353:Gene Deletion; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D015931:Intensive Care, Neonatal; D007743:Labor, Obstetric; D007752:Obstetric Labor, Premature; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome; D011651:Pulmonary Artery / Q000002:abnormalities; D011666:Pulmonary Valve Stenosis / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal
chemical_list: D004247:DNA