title: Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.
abstract: Prenatal manifestations of inborn errors of metabolism (IEM) are related to severe disorders involving metabolic pathways active in the fetal period and not compensated by maternal or placental metabolism. Some prenatal imaging findings can be suggestive of such conditions-especially in cases of consanguinity and/or recurrence of symptoms-after exclusion of the most frequent nonmetabolic etiologies. Most of these prenatal imaging findings are nonspecific. They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses. These anomalies can be isolated, but in most cases, an IEM is suggested by an association of features. It must be stressed that the diagnosis of an IEM in the prenatal period is based on a close collaboration between specialists in fetal imaging, medicine, genetics, biology, and pathology.
authors.affiliation: Département d'Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Lyon Bron, France. laurent.guibaud@chu-lyon.fr.|Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant, Lyon Bron, France. laurent.guibaud@chu-lyon.fr.|Université Claude Bernard Lyon I, Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, 59, Boulevard Pinel, 69677, Lyon-Bron, France. laurent.guibaud@chu-lyon.fr.
authors.forename: Laurent
authors.initials: L
authors.lastname: Guibaud
authors.affiliation: Département de Pathologie, Groupement Hospitalier Est, Lyon Bron, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Collardeau-Frachon
authors.affiliation: Département d'Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Lyon Bron, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Lacalm
authors.affiliation: Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant, Lyon Bron, France.
authors.forename: Mona
authors.initials: M
authors.lastname: Massoud
authors.affiliation: Service de Génétique, Centre de Référence des Anomalies de Développement, Hôpital Femme Mère Enfant, Lyon Bron, France.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Rossi
authors.affiliation: Service de Génétique, Centre de Référence des Anomalies de Développement, Hôpital Femme Mère Enfant, Lyon Bron, France.
authors.forename: Marie Pierre
authors.initials: MP
authors.lastname: Cordier
authors.affiliation: Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie, Groupement Hospitalier Est, Lyon Bron, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Vianey-Saban
mesh_terms: D005260:Female; D006801:Humans; D053858:Metabolic Networks and Pathways / Q000502:physiology; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D016216:Ultrasonography, Prenatal / Q000379:methods