Michal Gafner
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View article: Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic
Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic Open
Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort…
View article: Structural Posterior Fossa Malformations: MR Imaging and Neurodevelopmental Outcome
Structural Posterior Fossa Malformations: MR Imaging and Neurodevelopmental Outcome Open
Objectives: The increasing use of fetal MRI has increased the diagnosis of posterior fossa malformations, yet the long-term neurodevelopmental outcomes of affected fetuses remain unclear. This study aims to examine the long-term neurodevel…
View article: An Association Between Fetal Subarachnoid Space and Various Pathologies Using MR Imaging
An Association Between Fetal Subarachnoid Space and Various Pathologies Using MR Imaging Open
Background/Objectives: This study aimed to explore a relationship between the fetal subarachnoid space (SAS) width and various fetal pathologies, employing fetal brain MRI scans. Methods: A retrospective collection of fetal brain MRI scans…
View article: Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies
Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies Open
Aim To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling. Method A retrospective, multicentre chart review was conducted on fetuses who un…
View article: Identifying causes and associated factors of stillbirths using autopsy of the fetus and placenta
Identifying causes and associated factors of stillbirths using autopsy of the fetus and placenta Open
Purpose The study aimed to evaluate the causes of death and associated factors in cases of stillbirth, using post-mortem examination and applying a rigorous, evidence-based holistic approach. Methods Our retrospective observational study i…
View article: Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome
Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome Open
Hydrocephalus is rarely described in Joubert‐Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson …
View article: Identifying causes and associated factors of stillbirths using autopsy of the fetus and placenta
Identifying causes and associated factors of stillbirths using autopsy of the fetus and placenta Open
Purpose: The study aimed to evaluate the causes of death and associated factors in cases of stillbirth, using post-mortem examination and applying a rigorous, evidence-based holistic approach. Methods: Our retrospective observational study…
View article: OP04.04: Comparison of the prenatal imaging findings at the second and third trimester of pregnancy to the autopsy findings in fetuses with brain anomalies
OP04.04: Comparison of the prenatal imaging findings at the second and third trimester of pregnancy to the autopsy findings in fetuses with brain anomalies Open
The fetal neurology clinic (FNC) is a multidisciplinary clinic that utilises the advancements in prenatal imaging (US and MRI) and genetic testing to identify brain anomalies and prognosticate the neurodevelopmental outcome of fetuses to p…
View article: Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation Open
This is the first study to describe a series of 13 patients with medullary tegmental cap dysplasia. The cap has different shapes: distinct in Joubert-Boltshauser syndrome and fibrodysplasia ossificans progressive. Due to the variations in …
View article: Volumetric Brain MRI Study in Fetuses with Intrauterine Growth Restriction Using a Semiautomated Method
Volumetric Brain MRI Study in Fetuses with Intrauterine Growth Restriction Using a Semiautomated Method Open
Intrauterine growth restriction affects the volume of brain structures, as measured by quantitative MR imaging. Compared with healthy controls, the effect on birth weight was more prominent than the effect on brain structures, possibly due…
View article: Expanding the natural history of <scp>CASK</scp>‐related disorders to the prenatal period
Expanding the natural history of <span>CASK</span>‐related disorders to the prenatal period Open
Aim To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin‐dependent serine protein kinase (CASK) gene disorders. Method In this internationa…
View article: Sexual Dimorphism of the Fetal Brain Biometry: An MRI Based Study
Sexual Dimorphism of the Fetal Brain Biometry: An MRI Based Study Open
Purpose: Fetal growth assessment is a key component of prenatal care. Sex-specific fetal brain nomograms on ultrasound are available and are clinically used. In recent years, the use of fetal MRI has been increasing, however, there are no …
View article: PFAPA flares observed during COVID outbreak: can emotional stress trigger PFAPA attacks? A multicenter cohort study
PFAPA flares observed during COVID outbreak: can emotional stress trigger PFAPA attacks? A multicenter cohort study Open
View article: Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder
Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder Open
Interstitial deletions of 16q24.1–q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Lymphedema–Distichiasis syndrome (LDS; OMIM # 153400) is …
View article: Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders Open
View article: Correlation between 2D and 3D Fetal Brain MRI Biometry and Neurodevelopmental Outcomes in Fetuses with Suspected Microcephaly and Macrocephaly
Correlation between 2D and 3D Fetal Brain MRI Biometry and Neurodevelopmental Outcomes in Fetuses with Suspected Microcephaly and Macrocephaly Open
Provided there is normal brain structure on MR imaging, the developmental milestone achievements in early years are unrelated to 2D and 3D fetal brain MR imaging biometry, in the range of measurements depicted in this study.
View article: SARS-CoV-2 Infection Among Health Care Workers Despite the Use of Surgical Masks and Physical Distancing—the Role of Airborne Transmission
SARS-CoV-2 Infection Among Health Care Workers Despite the Use of Surgical Masks and Physical Distancing—the Role of Airborne Transmission Open
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is transmitted mainly via respiratory droplets. A key question in the coronavirus disease 2019 pandemic is whether SARS-CoV-2 could be transmitted via the airborne route as well.…