Fetal neurosonographic phenotyping of inborn errors of metabolism Abstract
Yi Man Isabella WAH,1 Chun Yiu LAW,2
1 Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong
2 Department of Pathology, Hong Kong Children's Hospital, Hong Kong
Fetal central nervous system malformations are commonly encountered during routine fetal morphology scans. Fetal ventriculomegaly is among the most common prenatal neuroimaging findings including midline abnormalities, posterior fossa abnormalities, and cortical malformation. Their imaging features are often symptoms or part of the phenotypic features of the underlying disease. Collective information from targeted fetal neurosonography, magnetic resonance imaging, and genetic testing can help clinicians to make the diagnosis. We review various common and essential fetal neuroimaging features and highlight their association with inborn errors of metabolism.
1 Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong
2 Department of Pathology, Hong Kong Children's Hospital, Hong Kong
Fetal central nervous system malformations are commonly encountered during routine fetal morphology scans. Fetal ventriculomegaly is among the most common prenatal neuroimaging findings including midline abnormalities, posterior fossa abnormalities, and cortical malformation. Their imaging features are often symptoms or part of the phenotypic features of the underlying disease. Collective information from targeted fetal neurosonography, magnetic resonance imaging, and genetic testing can help clinicians to make the diagnosis. We review various common and essential fetal neuroimaging features and highlight their association with inborn errors of metabolism.
Hong Kong J Gynaecol Obstet Midwifery 2023; 23(1):54-62
