4.2 Article

Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI

Journal

FETAL DIAGNOSIS AND THERAPY
Volume 43, Issue 1, Pages 53-60

Publisher

KARGER
DOI: 10.1159/000464247

Keywords

Prenatal diagnosis; Developmental venous anomaly; Cerebellum; Dedicated neurosonography; Fetal MRI

Ask authors/readers for more resources

Objective: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA). Methods: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed. Results: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosono-graphic scans performed at 2- to 3-week intervals. A specific Doppler feature was a collecting vein draining the echogenic parenchyma. Fetal brain MRI depicted normal anatomy on half-Fourier acquisition single-shot turbo spin-echo and diffusion-weighted imaging. The rest of the evaluation was normal. Conclusions: In cases with a persistent, parenchymal echogenic lesion without clastic or structural changes, DVA should be considered. Demonstration of a collecting vein draining the lesion and normal brain anatomy on MRI confirm the diagnosis. (C) 2017 S. Karger AG, Basel

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.2
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

Article Acoustics

Early second-trimester three-dimensional transvaginal neurosonography of fetal midbrain and hindbrain: normative data and technical aspects

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

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

Michal Gafner, Marina Michelson, Emanuela Argilli, Keren Yosovich, Elliott H. Sherr, Kendall C. Parks, Eleina M. England, Ronen Hady-Cohen, Zvi Leibovitz, Dorit Lev, Yael Michaeli-Yosef, Tally Lerman-Sagie, Lubov Blumkin

Summary: Through case reports from two unrelated families, it was revealed that BCORL1 gene mutations may lead to major brain developmental abnormalities including hypoplastic corpus callosum, septal agenesis, and unilateral perisylvian polymicrogyria. The mothers of these patients were carriers of the mutated gene, indicating a potential influence of BCORL1 on brain development.

JOURNAL OF HUMAN GENETICS (2022)

Article Genetics & Heredity

Prenatal diagnosis of a likely pathogenic variant in ZBTB18: Natural evolution of fetal phenotype including the long bones and corpus callosum

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

Ex-Vivo MRI of the Normal Human Placenta: Structural-Functional Interplay and the Association With Birth Weight

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 Clinical Neurology

Radiologically isolated aquaporin-4 antibody neuromyelitis optica spectrum disorder

Omar Abdel-Mannan, Ainat Klein, Anat Bachar Zipori, Liat Ben-Sira, Aviva Fattal-valevski, Yael Hacohen, Hadas Meirson

Summary: This study presents a case of radiologically isolated longitudinally extensive optic neuritis in a 12-year-old female with positive serum AQP4-Ab. The patient was asymptomatic and showed resolution of imaging changes after immune therapy. The discussion highlights the pathogenicity of AQP4-Ab in sub-clinical disease and the need for prognostic biomarkers to guide optimal therapy for patients with AQP4-Ab NMOSD.

MULTIPLE SCLEROSIS JOURNAL (2022)

Article Genetics & Heredity

Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant

Gustavo Malinger, Karina Haratz Krajden, Roee Brinbaum, Erez Tsur, Racheli Berger, Mordechai Shohat

Summary: This study found that loss of function distal variants in the CCND2 gene can cause fetal microcephaly.

PRENATAL DIAGNOSIS (2022)

Article Acoustics

Spectrum of brain malformations in fetuses with mild tubulinopathy

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

Malformation of cortical development with abnormal cortex: early ultrasound diagnosis between 14 and 24 weeks of gestation

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

ISUOG Practice Guidelines (updated): performance of fetal magnetic resonance imaging

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

Reply to: Addressing expectations of therapeutic options for children with hydrocephalus-A comment on Fetal Cerebral Ventriculomegaly. What do we tell the prospective parents?

Veronica Giorgione, Karina Krajden Haratz, Shlomi Constantini, Roee Birnbaum, Gustavo Malinger

PRENATAL DIAGNOSIS (2023)

Article Acoustics

Fetal neurosonography as accurate tool for diagnosis of brain involvement in tuberous sclerosis

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

SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance

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

The normal 14-18 gestational weeks parasagittal complex view of the fetal brain. A 3D transvaginal neurosonographic study

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

Improved differentiation between hypo/hypertelorism and normal fetuses based on MRI using automatic ocular biometric measurements, ocular ratios, and machine learning multi-parametric classification

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

A New BCl6 Transcriptional Corepressor Variant Mosaicism in a Fetus with Severe Fetal-Eye Anomalies

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)

No Data Available