Review
Obstetrics & Gynecology
Filomena Giulia Sileo, Daniele Di Mascio, Giuseppe Rizzo, Massimo Caulo, Lucia Manganaro, Emma Bertucci, Sophie Masmejan, Marco Liberati, Alice D'Amico, Luigi Nappi, Danilo Buca, Tim Van Mieghem, Asma Khalil, Francesco D'Antonio
Summary: This study found that the rate of associated anomalies detected exclusively at fetal MRI in isolated ACC undergoing neurosonography is lower than previously reported. Cortical and posterior fossa anomalies are among the most common anomalies missed at ultrasound.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2021)
Review
Acoustics
H. Mahallati, A. Sotiriadis, C. Celestin, A. E. Millischer, P. Sonigo, D. Grevent, N. O'Gorman, N. Bahi-Buisson, T. Attie-Bitach, Y. Ville, L. J. Salomon
Summary: Objective fetal abnormalities of the corpus callosum have been reported in prenatal imaging literature since 1985 and pose challenges for both patients and fetal medicine specialists, especially when isolated. A systematic review was conducted to assess the heterogeneity in terminology and definitions used for abnormalities other than complete agenesis of the corpus callosum. The study found that there is much greater heterogeneity in nomenclature and definition of corpus callosum anomalies in prenatal literature compared to postnatal literature, making it difficult to develop large multicenter cohorts to better understand genetic associations and outcomes of patients with these anomalies.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Article
Clinical Neurology
Justine Fraize, Pauline Garzon, Alexandra Ntorkou, Eliot Kerdreux, Odile Boespflug-Tanguy, Anita Beggiato, Richard Delorme, Lucie Hertz-Pannier, Monique Elmaleh-Berges, David Germanaud
Summary: This study aimed to identify easily accessible neuroanatomical abnormalities for diagnosing fetal alcohol spectrum disorders (FASD) in fetal alcohol syndrome (FAS) and non-syndromic forms (NS-FASD). The results showed significant abnormalities in certain brain measurements in FASD patients compared to the control group. Therefore, incorporating neuroanatomical-radiological criteria into the diagnosis of FASD may improve its specificity.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Review
Radiology, Nuclear Medicine & Medical Imaging
Stacy Goergen, Farha Furruqh, Rachel Evans, Soumya Cicilet, Kshitij Mankad
Summary: This pictorial review provides a systematic diagnostic approach for evaluating the fetus with failed visualization of the cavum septum pellucidum (CSP) using intrauterine/fetal MRI (iuMRI). The pitfalls in sonographic diagnosis of normal or abnormal CSP/SLs, as well as the differentiation between failed formation and perforation of the SLs, are discussed. The review highlights the underdiagnosis of malformations associated with obstructive hydrocephalus and the importance of iuMR in their diagnosis.
BRITISH JOURNAL OF RADIOLOGY
(2023)
Article
Obstetrics & Gynecology
Maddalena Santirocco, Carlota Rodo, Tamara Illescas, Elida Vazquez, Marta Garrido, Teresa Higueras, Silvia Arevalo, Nerea Maiz, Elena Carreras
Summary: Prenatal ultrasound is accurate in diagnosing corpus callosum anomalies, with third trimester MRI being able to detect additional intracranial anomalies in 15% of cases. The type of CC abnormality can be accurately classified by prenatal ultrasound and MRI.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2021)
Article
Clinical Neurology
Wendy H. Shwe, Sarah D. Schlatterer, Jordan Williams, Adre J. du Plessis, Sarah B. Mulkey
Summary: This study describes cases of agenesis of the corpus callosum (ACC) diagnosed by fetal magnetic resonance imaging (MRI) and determines the frequency of postnatal confirmation by MRI, as well as the postnatal outcomes of infants with ACC. The results indicate that children with isolated or complex ACC and with partial or complete ACC have a range of neurodevelopmental outcomes. Fetal and postnatal brain MRI is a valuable tool to understand differences of the corpus callosum.
PEDIATRIC NEUROLOGY
(2022)
Article
Obstetrics & Gynecology
P. Maurice, J. Garel, C. Garel, F. Dhombres, S. Friszer, L. Guilbaud, E. Maisonneuve, H. Ducou Le Pointe, E. Blondiaux, J-M Jouannic
Summary: The study found that besides Chiari type 2 malformation, other cerebral anomalies are frequently observed in fetuses with myelomeningocele, with the most common being abnormalities of the corpus callosum. Whether these associated cerebral anomalies affect the selection of cases eligible for fetal surgery requires further evaluation.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2021)
Review
Medicine, General & Internal
Barbara Scelsa
Summary: Brain abnormalities in fetal life are receiving more attention, and child neurologists play a crucial role in fetal consultations. Specific training in fetal neurology is necessary. Ventriculomegaly, posterior fossa malformations, and agenesis/dysgenesis of corpus callosum are commonly seen in antenatal neurological consultations.
Article
Acoustics
Sonila Pashaj, Eberhard Merz
Summary: This article outlines the correct demonstration of the fetal corpus callosum with 3D ultrasound, emphasizing the importance of acquiring the fetal brain image from a sagittal plane for accurate presentation of the corpus callosum. Volume manipulation in all three dimensions allows for precise demonstration of the median plane of the brain.
ULTRASCHALL IN DER MEDIZIN
(2021)
Article
Acoustics
M. C. Diogo, S. Glatter, D. Prayer, G. M. Gruber, D. Bettelheim, M. Weber, G. Dovjak, R. Seidl, G. Kasprian
Summary: This study aimed to apply and validate a fetal MRI anatomical scoring system in a cohort of fetuses with isolated CCA, and found a significant negative correlation between fetal MRI score and neurodevelopmental outcome, suggesting the potential for better risk stratification for poor neurodevelopmental outcome in CCA patients by assessing structural features of the fetal brain on MRI.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Pieta Shakes, Andrew Cashin, John Hurley
Summary: The objective of prenatal screening and diagnosis is to support parents preparing to deliver a baby with medical needs or disabilities, but research shows that this objective is not fully realized. The diagnosis of agenesis of the corpus callosum, characterized by uncertainty in various aspects, can cause distress for expectant mothers. This study explores the maternal experience of continuing pregnancy after such a prenatal diagnosis and emphasizes the need for healthcare professionals to have awareness and provide support throughout the process.
SOCIAL SCIENCE & MEDICINE
(2023)
Article
Obstetrics & Gynecology
Yan Zhang
Summary: Prenatal ultrasound, especially neurosonography, has satisfactory diagnostic efficacy for agenesis of corpus callosum (ACC). The sensitivity is 0.72, specificity is 0.98, positive likelihood ratio is 43.73, and negative likelihood ratio is 0.29. Neurosonography has better diagnostic efficacy than regular ultrasound screening.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2023)
Article
Medicine, General & Internal
Ioana Cristina Rotar, Stefania Tudorache, Adelina Staicu, Roxana Popa-Stanila, Roxana Constantin, Mihai Surcel, Gabriela Corina Zaharie, Daniel Muresan
Summary: This study provides clinical experience on the imaging diagnosis, management, and postnatal outcome of neonates suspected of having ovarian cysts prenatally. The study found that ultrasound plays a major role in diagnosing fetal ovarian cysts.
Article
Acoustics
Filomena Giulia Sileo, Gianluigi Pilu, Daniela Prayer, Giuseppe Rizzo, Asma Khalil, Lucia Managanaro, Paolo Volpe, Tim Van Mieghem, Emma Bertucci, Jose Morales Rosello, Fabio Facchinetti, Daniele Di Mascio, Tamara Stampalija, Danilo Buca, Sara Tinari, Ludovica Oronzi, Giada Ercolani, Alice D'Amico, Barbara Matarrelli, Chiara Cerra, Ilaria Fantasia, Lucia Pasquini, Giulia Masini, Claudiana Olivieri, Tullio Ghi, Tiziana Frusca, Andrea Dall'Asta, Silvia Visentin, Erich Cosmi, Ignazio D'Errico, Cecilia Villalain, Olivia Mendez Quintero, Antonella Giancotti, Valentina D'Ambrosio, Amanda Antonelli, Massimo Caulo, Valentina Panara, Marco De Santis, Ilenia Mappa, Federico Prefumo, Lorenzo Pinelli, Gabriela Loscalzo, Gabriella Bracalente, Marco Liberati, Elisa Filippi, Elena Trincia, Petra Pateisky, Herbert Kiss, Joana Curado, Marta Almeida, Antonia Santos, Alberto Galindo, Francesco D'Antonio
Summary: In fetuses with isolated anomaly of the CC diagnosed on antenatal neurosonography, MRI can identify a small proportion of additional anomalies, mainly malformations of cortical development, which are not detected on ultrasound.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Article
Clinical Neurology
M. Bekiesinska-Figatowska, P. Sobieraj, M. Pasieczna, J. Szymkiewicz-Dangel
Summary: There is a strong emphasis on early detection and treatment of tuberous sclerosis complex before seizure onset, which can be achieved through prenatal ultrasound and MR imaging. Cardiac rhabdomyomas can be detected during fetal ultrasound, while prenatal MR imaging can detect major cerebral manifestations.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2023)
Article
Acoustics
R. Birnbaum, R. Barzilay, M. Brusilov, P. Acharya, G. Malinger, K. Krajden Haratz
Summary: This study aimed to provide a detailed description of the sonographic appearance and development of various fetal structures of the midbrain and hindbrain (MBHB) during the early second trimester. The study found that transvaginal neurosonography allows for a detailed assessment of MBHB in the early second trimester and provides reference data that may aid in the early detection of brain pathology involving MBHB.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Genetics & Heredity
Roee Birnbaum, Ofer Markovitch, Tal Biron-shental, Debora Kidron, Liat Ben-Sira, Shira Litz Philipsborn, Eyal Reinstein
Summary: Pathogenic variants in the ZBTB18 gene have been found for the first time in a fetus, showing features such as intrauterine growth restriction, diminished long bones growth, single umbilical artery, and a short corpus callosum. The challenging diagnosis of this disorder highlights the importance of targeted follow-up and high clinical suspicion throughout pregnancy.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Daphna Link-Sourani, Netanell Avisdris, Shaul Harel, Liat Ben-Sira, Tuvia Ganot, Zoya Gordon, Ariel Many, Dafna Ben Bashat
Summary: Advanced MRI methods are used to assess human placenta to understand structure-function interplay and pregnancy risks. This study characterized ex-vivo human placental structure and function using MRI and identified imaging-markers for placentas at risk for dysfunction. Results showed correlation between placental function, umbilical cord centricity index, and birth weight, suggesting potential markers for identifying placental dysfunction risk.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Article
Acoustics
Y. Yaron, V. Ofen Glassner, A. Mory, N. Zunz Henig, A. Kurolap, A. Bar Shira, D. Brabbing Goldstein, D. Marom, L. Ben Sira, H. Baris Feldman, G. Malinger, K. Krajden Haratz, A. Reches
Summary: This study compared the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in fetuses with central nervous system (CNS) anomalies. The results showed that ES provided a high diagnostic yield for severe CNS structural anomalies and may be considered as a first-tier test for prenatal diagnosis, detecting both sequence variants and copy-number variants (CNVs).
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Genetics & Heredity
Alina Kurolap, Adi Mory, Sharon Simchoni, Karina Krajden Haratz, Gustavo Malinger, Roee Birnbaum, Hagit Baris Feldman, Yuval Yaron
Summary: This study reports a case of a couple of Ashkenazi Jewish descent and their pregnancy with multiple fetal abnormalities. Genetic diagnostic testing and RNA analysis revealed the association of TMEM67 gene variants with the fetal abnormalities. The novelty of this study lies in the reclassification of an unknown variant and empowering the couple to make informed reproductive choices.
PRENATAL DIAGNOSIS
(2022)
Review
Genetics & Heredity
Veronica Giorgione, Karina Krajden Haratz, Shlomi Constantini, Roee Birnbaum, Gustavo Malinger
Summary: Fetal cerebral ventriculomegaly is a common finding that can be diagnosed through ultrasound. Detailed neurosonography and anatomy ultrasound should be conducted to identify any associated anomalies. MRI may be used if neurosonography is not available. Screening for infections and genetic testing is recommended. Treatment options depend on the degree of ventriculomegaly and presence of other abnormalities.
PRENATAL DIAGNOSIS
(2022)
Article
Acoustics
R. Hagege, K. Krajden Haratz, G. Malinger, L. Ben-Sira, Z. Leibovitz, D. Heron, L. Burglen, R. Birnbaum, S. Valence, B. Keren, L. Blumkin, J. -m. Jouannic, T. Lerman-Sagie, C. Garel
Summary: This retrospective multicenter study aimed to investigate the prenatal diagnosis of mild forms of tubulinopathy and define the ultrasound and MRI features that can facilitate this diagnosis. The main ultrasound criteria included midline distortion, ventricular asymmetry, dysmorphic and/or dilated frontal horn(s), and abnormal sulcation. The main MRI criteria were midline distortion, distortion of the cavum septi pellucidi, ventricular asymmetry, dilatation and/or distortion, dysmorphic and/or dilated frontal horn(s), and abnormal sulcation. Mutations were found in TUBB3, TUBB, TUBB2B, or TUBA1A genes. Most findings could be visualized on ultrasound. The prenatal diagnosis of mild tubulinopathy is challenging but important for prenatal counseling.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Acoustics
K. Krajden Haratz, R. Birnbaum, D. Kidron, J. Har-Toov, Y. Salemnick, M. Brusilov, G. Malinger
Summary: This retrospective study aimed to identify neurosonographic findings that can diagnose or highly suggest the presence of malformations of cortical development before 24 weeks of gestation. The study cohort included 20 fetuses, with a mean gestational age at diagnosis of 18.7 weeks. Familiarity with fetal brain anatomy and its early sonographic landmarks allowed for early diagnosis of these malformations.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Acoustics
D. Prayer, G. Malinger, L. De Catte, B. De Keersmaecker, L. F. Goncalves, G. Kasprian, S. Laifer-Narin, W. Lee, A. -E. Millischer, L. Platt, F. Prayer, D. Pugash, L. J. Salomon, M. Sanz Cortes, F. Stuhr, I. E. Timor-Tritsch, B. Tutschek, D. Twickler, N. Raine-Fenning
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Letter
Genetics & Heredity
Veronica Giorgione, Karina Krajden Haratz, Shlomi Constantini, Roee Birnbaum, Gustavo Malinger
PRENATAL DIAGNOSIS
(2023)
Article
Acoustics
G. Malinger, A. Prabhu, A. Maroto Gonzalez, M. Brusilov, D. Kidron, R. Amster, R. Birnbaum, K. Krajden Haratz
Summary: This study aimed to demonstrate the potential utility of dedicated neurosonography in diagnosing fetal brain involvement in tuberous sclerosis complex. The results showed that dedicated neurosonography appeared to be effective and should be used as the first-line approach for diagnosing brain involvement in fetuses at risk of tuberous sclerosis complex.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Genetics & Heredity
Noa Hourvitz, Alina Kurolap, Adi Mory, Karina Krajden Haratz, Dvora Kidron, Gustavo Malinger, Hagit Baris Feldman, Yuval Yaron
Summary: A Jewish couple received genetic counseling after terminating a pregnancy due to fetal ventriculomegaly. Trio exome sequencing identified a loss-of-function variant in the SMARCC1 gene inherited from the mother. The SMARCC1 gene was found to be associated with embryonic neurodevelopmental processes and is now considered a susceptibility gene for hydrocephalus.
PRENATAL DIAGNOSIS
(2023)
Article
Genetics & Heredity
Roee Birnbaum, Maya Kuperberg, Michael Brusilov, Igal Wolman, Gustavo Malinger, Karina Krajden Haratz
Summary: This study aims to investigate the development of the fetal brain during the early second trimester. The study provides detailed data on various components and anatomical variants of the fetal brain and their association with brain malformations. These findings can assist clinicians in assessing fetal brain development during the early weeks of the second trimester.
PRENATAL DIAGNOSIS
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Netanell Avisdris, Daphna Link Sourani, Liat Ben-Sira, Leo Joskowicz, Gustavo Malinger, Simcha Yagel, Elka Miller, Dafna Ben Bashat
Summary: This study successfully differentiated hypo-/hypertelorism in fetuses using automatic biometric measurements and machine learning classification based on MRI. The results showed that the newly defined ratios and the ML multi-parametric classifier improved the accuracy of distinguishing abnormal from normal fetuses with the condition. The developed fully automatic method demonstrated high performance on varied clinical imaging data.
EUROPEAN RADIOLOGY
(2023)
Article
Obstetrics & Gynecology
Andres Malinger, Michael Brusilov, Daphna Mitzad Koresh, Mordechai Shohat, Gustavo Malinger
Summary: This article presents prenatal imaging of a fetus with severe eye anomalies, which have been diagnosed as a new variant mosaicism on the BCOR gene.
FETAL DIAGNOSIS AND THERAPY
(2022)
