Journal of Inherited Metabolic Disease

, Volume 40, Issue 1, pp 103–112 | Cite as

Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings

  • Laurent Guibaud
  • Sophie Collardeau-Frachon
  • Audrey Lacalm
  • Mona Massoud
  • Massimiliano Rossi
  • Marie Pierre Cordier
  • Christine Vianey-Saban
SSIEM 2015


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.


Craniosynostosis Cystinuria Glutaric Aciduria Type Peroxisomal Disorder Rhizomelic Chondrodysplasia Punctata 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Compliance with ethical standards

Conflict of interest


Details of funding for all research studies

The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.

Informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Declaration of Helsinki, 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.


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Copyright information

© SSIEM 2016

Authors and Affiliations

  • Laurent Guibaud
    • 1
    • 2
    • 3
  • Sophie Collardeau-Frachon
    • 4
  • Audrey Lacalm
    • 1
  • Mona Massoud
    • 2
  • Massimiliano Rossi
    • 5
  • Marie Pierre Cordier
    • 5
  • Christine Vianey-Saban
    • 6
  1. 1.Département d’Imagerie Pédiatrique et FœtaleHôpital Femme Mère EnfantLyon BronFrance
  2. 2.Centre Pluridisciplinaire de Diagnostic PrénatalHôpital Femme Mère EnfantLyon BronFrance
  3. 3.Université Claude Bernard Lyon I, Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère EnfantLyon-BronFrance
  4. 4.Département de PathologieGroupement Hospitalier EstLyon BronFrance
  5. 5.Service de Génétique, Centre de Référence des Anomalies de DéveloppementHôpital Femme Mère EnfantLyon BronFrance
  6. 6.Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et PathologieGroupement Hospitalier EstLyon BronFrance

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