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Human brain development is a complex process that begins in the third week of gestation. During early development, the fetal brain undergoes dynamic morphological changes. These changes result from events such as neurogenesis, neuronal migration, synapse formation, axonal growth and myelination. Disruption of any of these processes is thought to be responsible for a wide array of different pathologies. Recent advances in magnetic resonance imaging, especially diffusion-weighted imaging and diffusion tensor imaging (DTI), have enabled characterization and evaluation of brain development in utero. In this review, aimed at practitioners involved in fetal medicine and high-risk pregnancies, we provide a comprehensive overview of fetal DTI studies focusing on characterization of early normal brain development as well as evaluation of brain pathology in utero. We also discuss the reliability and limitations of fetal brain DTI. © 2022 International Society of Ultrasound in Obstetrics and Gynecology., (© 2022 International Society of Ultrasound in Obstetrics and Gynecology.)

Objectives: Periventricular nodular heterotopia (PNH) is a malformation of cortical development which presents with heterogeneous imaging, neurological phenotype and outcome. There is a paucity of comprehensive description detailing the prenatal diagnosis of PNH. The aim of this study is to report neuroimaging features and correlated outcomes in order to delineate the spectrum of prenatally diagnosed PNH., Methods: It was a retrospective study over 15 years in five tertiary centers. All fetuses with prenatally diagnosed PNH were collected. Fetal ultrasound and MRI were reviewed and genetic screening collected. Prenatal findings were analyzed in correlation to fetopathological analyses and post-natal follow up., Results: Thirty fetuses (22 females and 8 males) with PNH were identified. The two major ultrasound signs were ventriculomegaly associated with dysmorphic frontal horns (60%) and posterior fossa anomalies (73.3%). On MRI, two groups of PNH were identified: the contiguous and diffuse PNH (n = 15, 50%), often associated with megacisterna magna, and the non-diffuse, either anterior, posterior or unilateral PNH. FLNA mutations were found in 6/11 cases with diffuse PNH. Additional cortical malformations were exclusively observed in non diffuse PNH (9/15; 60%). Twenty-four pregnancies (80%) were terminated. Six children aged 6 months to 5 years are alive. Five have normal neurodevelopment (all had diffuse PNH) whereas one case with non diffuse PNH has developmental delay and epilepsy., Conclusion: PNH is heterogeneous but patients with diffuse PNH are a common subgroup with specific findings on prenatal imaging and implications for prenatal counseling., (Copyright © 2018. Published by Elsevier Masson SAS.)