Premium
Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings
Author(s) -
Guibaud Laurent,
CollardeauFrachon Sophie,
Lacalm Audrey,
Massoud Mona,
Rossi Massimiliano,
Cordier Marie Pierre,
VianeySaban Christine
Publication year - 2017
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-016-9992-3
Subject(s) - hydrops fetalis , prenatal diagnosis , medicine , etiology , pregnancy , galactosemia , fetus , consanguinity , intrauterine growth restriction , peroxisomal disorder , amniocentesis , obstetrics , pathology , pediatrics , genetics , biology , peroxisome , receptor , biochemistry , galactose
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.