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This article discusses the need for a dedicated classification system for fetal intraventricular hemorrhage (IVH) and periventricular hemorrhagic venous infarction (PVHI). These conditions are major causes of mortality and morbidity in preterm newborns and can lead to long-term neurodevelopmental issues. The article highlights the differences between fetal and postnatal IVH, the risk factors associated with fetal IVH, and the use of ultrasound and MRI for diagnosis. It also emphasizes the need for further research on the outcomes of fetal IVH and the development of a classification system to improve prenatal counseling and guide treatment decisions. The authors propose a classification system based on fetal neurosonography and MRI that includes various parameters such as location, extent, and laterality of parenchymal involvement, as well as the presence of posterior fossa involvement. They suggest that this classification system could serve as a reliable prognostic tool for accurate parental counseling. The authors also outline a research timeline for the development and evaluation of this classification system. [Extracted from the article]

Objective: To report on a large cohort of fetuses with mild forms of tubulinopathy and to define prenatal ultrasound and magnetic resonance imaging (MRI) features that can facilitate prenatal diagnosis. Methods: This was a retrospective multicenter study of fetuses diagnosed between January 2007 and February 2022 with a mild tubulinopathy (without lissencephaly or microlissencephaly). We collected and reviewed brain imaging and genetic data, and defined major criteria as findings observed in ≥ 70% of the patients and minor criteria as those observed in ≥ 50% but < 70% of the patients. Results: Our cohort included 34 fetuses. The mean gestational age at ultrasound screening, when suspicion of a central nervous system anomaly was first raised, was 24.2 (range, 17–33) weeks. Callosal anomalies (n = 19 (56%)) and abnormal ventricles (n = 18 (53%)) were the main reasons for referral. The mean gestational age at neurosonography was 28.3 (range, 23–34) weeks and that at MRI was 30.2 (range, 24–35) weeks. Major ultrasound criteria were midline distortion, ventricular asymmetry, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation. Minor ultrasound criteria were distortion of the cavum septi pellucidi, abnormal corpus callosum, absent or asymmetric olfactory sulci, ventriculomegaly and basal ganglia dysmorphism. Major MRI criteria were midline distortion, distortion of the cavum septi pellucidi, ventricular asymmetry, dilatation (generally unilateral) and/or distortion, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation (mainly dysgyria). Minor MRI criteria were absent or asymmetric olfactory sulci, abnormal bulge of the pons, anteroposterior diameter of the pons ≤ 5th centile and brainstem asymmetry. A mutation was found in TUBB3 (44.1% of cases), TUBB (23.5%), TUBB2B (14.7%) or TUBA1A (17.6%). The mutation was inherited from a parent in 18/34 cases. The pregnancy was terminated in 23/34 cases. Conclusions: Prenatal diagnosis of mild forms of tubulinopathy is possible but challenging. We have defined, in this large series of fetuses, major and minor criteria that can help identify this entity in utero. Most findings can be visualized on ultrasound. This evaluation is also important for prenatal counseling. Once a prenatal diagnosis of mild tubulinopathy is suspected, the family members should be referred for exome sequencing and MRI. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: Prenatally detected central nervous system (CNS) anomalies present a diagnostic challenge. In this study, we compared the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in fetuses with a major CNS anomaly.Methods: This was a retrospective study of 114 cases referred for genetic evaluation following termination of pregnancy (TOP) due to a major CNS anomaly detected on prenatal ultrasound. All fetuses were first analyzed by CMA. All CMA-negative cases were offered ES. CMA-positive cases were reanalyzed using ES to assess its ability to detect copy-number variants (CNVs).Results: CMA identified a pathogenic or likely pathogenic (P/LP) CNV in 11/114 (10%) cases. Eighty-six CMA-negative cases were analyzed using ES, which detected P/LP sequence variants in 38/86 (44%). Among recurrent cases (i.e. cases with a previously affected pregnancy), the incidence of P/LP sequence variants was non-significantly higher compared with non-recurrent ones (12/19 (63%) vs 26/67 (39%); P = 0.06). Among the 38 cases with an ES diagnosis, 20 (53%) were inherited and carried a significant risk of recurrence. Reanalysis of 10 CMA-positive cases by ES demonstrated that the bioinformatics pipeline used for sequence variant analysis also detected all P/LP CNVs, as well as three previously known non-causative CNVs.Conclusions: In our study, ES provided a high diagnostic yield (> 50%) in fetuses with severe CNS structural anomalies, which may have been partly due to the highly selected case series that included post-TOP cases from a specialist referral center. These data suggest that ES may be considered as a first-tier test for the prenatal diagnosis of major fetal CNS anomalies, detecting both P/LP sequence variants and CNVs. This is of particular importance given the time constraints of an ongoing pregnancy and the risk of recurrence in future pregnancies. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objectives: To describe the prenatal neuroimaging spectrum of rhombencephalosynapsis (RES) and criteria for its classification according to the severity of vermian anomaly.Methods: In this multicenter retrospective study of fetuses with RES between 2002 and 2020, the medical records and brain ultrasound and magnetic resonance images were evaluated comprehensively to determine the severity of the vermian anomaly and the presence of associated brain findings. RES was classified, according to the pattern of vermian agenesis and the extent of the fusion of the hemispheres, as complete RES (complete absence of the vermis) or partial RES (further classified according to the part of the vermis that was missing and, consequently, the region of hemispheric fusion, as anterior, posterior, severe or mixed RES). Findings were compared between cases with complete and those with partial RES.Results: Included in the study were 62 fetuses with a gestational age ranging between 12 and 37 weeks. Most had complete absence of the vermis (complete RES, 77.4% of cases), a 'round-shaped' cerebellum on axial views (72.6%) and a transverse cerebellar diameter (TCD) < 3rd centile (87.1%). Among the 22.6% of cases with partial RES, 6.5% were classified as severe partial, 6.5% as partial anterior, 8.1% as partial mixed and 1.6% as partial posterior. Half of these cases presented with normal or nearly normal cerebellar morphology and 28.5% had a TCD within the normal limits. Infratentorially, the fourth ventricle was abnormal in 88.7% of cases overall, and anomalies of the midbrain and pons were frequent (93.5% and 77.4%, respectively). Ventriculomegaly was observed in 80.6% of all cases, being more severe in cases with complete RES than in those with partial RES, with high rates of parenchymal and septal disruption.Conclusions: This study provides prenatal neuroimaging criteria for the diagnosis and classification of RES, and identification of related features, using ultrasound and magnetic resonance imaging. According to our findings, a diagnosis of RES should be considered in fetuses with a small TCD (severe cerebellar hypoplasia) and/or a round-shaped cerebellum on axial views, during the second or third trimester, especially when associated with ventriculomegaly. Partial RES is more common than previously thought, but presents an extreme diagnostic challenge, especially in cases with normal or nearly-normal cerebellar morphobiometric features. © 2021 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

In addition to ventriculomegaly, abnormal corpus callosum and adducted thumbs, fetal MRI has also detected diencephalic and midbrain-hindbrain malformations in most fetuses affected by the L1 syndrome. L1 syndrome includes a spectrum of X-linked disorders caused by pathogenic variants of L1CAM gene, which encodes a cell adhesion molecule involved in the central nervous system (CNS) development. In addition to the evaluation of lateral ventricles, corpus callosum and cortical development, thalami and midbrain-hindbrain were investigated. [Extracted from the article]

Objective: To evaluate the prediction of microcephaly at birth (micB) using established and two new reference ranges for fetal head circumference (HC) and to assess whether integrating additional parameters can improve prediction.Methods: Microcephaly in utero was defined as a fetal HC 3SD below the mean for gestational age according to Jeanty et al.'s reference range. The records of cases with fetal microcephaly (Fmic) were evaluated for medical history, imaging findings, biometry and postnatal examination/autopsy findings. Microcephaly was confirmed at birth (micB) by an occipitofrontal circumference (OFC) or a brain weight at autopsy 2SD below the mean for gestational age. The new INTERGROWTH-21(st) Project and a recent Israeli reference for fetal growth were applied for evaluation of the Fmic positive predictive value (PPV) for diagnosis of micB cases. Optimal HC cut-offs were determined for each of the new references with the aim of detecting all micB cases whilst minimizing the number of false positives found to have a normal HC at birth. We also assessed the difference between the Z-scores of the prenatal HC and the corresponding OFC at birth, the frequency of small-for-gestational age (SGA), decreased HC/abdominal circumference (AC) and HC/femur length (FL) ratios, the prevalence of associated malformations and family history.Results: Forty-two fetuses were diagnosed as having Fmic according to the Jeanty reference, but micB was confirmed in only 24 (PPV, 57.1%). The optimal INTERGROWTH and Israeli reference HC cut-offs for micB diagnosis were mean - 3SD and mean - 2.3SD, resulting in a statistically non-significant improvement in PPV to 61.5% and 66.7%, respectively. The presence of a family history of microcephaly, SGA, associated malformations and application of stricter HC cut-offs resulted in a higher PPV of micB, although not statistically significant and with a concurrent increase in the number of false-negative results. The deviation of the HC from the mean, by all references, was significantly larger compared with the actual deviation of the OFC at birth, with mean differences between the corresponding Z-scores of -1.15, -1.95 and -0.74 for the Jeanty, INTERGROWTH and Israeli references, respectively.Conclusions: The evaluated reference ranges all result in considerable over-diagnosis of fetal microcephaly. The use of the two new HC reference ranges did not significantly improve micB prediction compared with that of Jeanty et al., whilst use of additional characteristics and stricter HC cut-offs could improve the PPV with an increase in false negatives. The postnatal OFC deviates significantly less from the mean compared with the prenatal HC, and we propose that adjustment for this would enable better prediction of the actual OFC deviation at birth. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To construct a reference range for a new vertical measurement of the fetal head and to assess whether its combination with fetal head circumference (HC) can prevent the misdiagnosis of microcephaly in fetuses with an acrocephalic-like head deformation.Methods: A new vertical cranial biometric measurement was defined: the foramen magnum-to-cranium distance (FCD), measured between the foramen magnum and the upper inner cranial border along the posterior wall of the brainstem. The measurement was performed in a precise mid-sagittal plane using a three-dimensional multiplanar display of a sagittally acquired sonographic volume of the fetal head. The normal reference range was developed by measuring 396 healthy fetuses of low-risk singleton pregnancies between 15 and 40 gestational weeks. This reference was applied to 25 fetuses with microcephaly diagnosed prenatally (Fmic) based on HC ≥ 3 SD below the mean for gestational age. We determined an optimal FCD cut-off for combination with HC to detect all cases found with microcephaly at birth (micB), while excluding the fetuses with normal head circumference at birth (NHCB), who were described postnatally as having an acrocephalic-like cranial deformation.Results: In the healthy singleton fetuses, FCD increased with gestational age, with a quadratic equation providing an optimal fit to the data (adjusted R(2) = 0.934). The measurement could be assessed in 95.2% of cases. Of the 25 cases diagnosed with Fmic prenatally, on the basis of HC alone, 14 were micB and 11 were NHCB. We observed FCD below the mean - 2SD for gestational age in all 14 micB cases, but in only four of the 11 NHCB cases (P < 0.003). An acrocephalic-like cranial deformation was described at birth in five of the seven NHCB cases with normal FCD. The mean ± SD FCD Z-score of the micB cases was significantly lower (P < 0.001) than that of the false-positive ones: -3.85 ± 0.96 SD and -1.59 ± 1.45 SD, respectively. Based on HC measurement alone, the positive predictive value (PPV) was 56%. Combination of the HC and FCD criteria raised the PPV to 78%, decreasing the number of false positives from 11 to four, without missing any of the 14 micB cases.Conclusions: Fetal vertical cranial biometric assessment in the mid-sagittal plane is feasible and correlates well with gestational age. In our series, a vertical cranial deformation was a frequent cause of a false Fmic diagnosis made on the basis of HC alone. Combination of the new vertical cranial biometric measurement with HC measurement can exclude these cases and thus improve diagnostic accuracy for Fmic. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Variants of unknown significance (VUS) poses a dilemma in prenatal genetic testing and counselling. Methods Cases were selected from a cohort of 87 patients who underwent TOP for major CNS anomalies and presented VUS either in genetic assessment. [Extracted from the article]

An abstract of the article "Second trimester visualisation of a thick corpus callosum can be a transient finding of uncertain significance" by S. Shinar and others is presented.

An abstract of the article "Prenatal diagnosis of cerebellar hypoplasia" by L. Guibaud and others is presented.

From the 51/69 cases (73.9%) in which the ERCS was isolated (normal cerebellum no additional CNS or extra-CNS findings), 50 (98%) cases had normal neurodevelopment (mean follow-up 3.6 years; SD ± 1.8). Data on associated central nervous system (CNS) and non-CNS findings and pregnancy outcome were retrieved. The differential diagnosis of an enlarged retrocerebellar space (ERCS) includes mega cisterna magna (MCM), arachnoid cyst (AC), and cerebellar hypoplasia (CH). [Extracted from the article]

Objectives To describe the sonographic technique for assessment of the fetal optic nerve sheath and to report on three fetuses with intracranial lesions and enlarged optic nerve sheath diameter (ONSD) compared with normal controls matched for gestational age (GA). Methods In this cross-sectional study ONSD was measured sonographically in three fetuses (aged 23, 24 and 35 gestational weeks) with intracranial findings associated with increased intracranial pressure (ICP; dural thrombosis and intracranial tumors) as well as 42 healthy controls matched for GA ± 1 week (aged 22-25 and 34-36 weeks). For fetal eye assessment, transabdominal and transvaginal routes and high-resolution transducers were used for optimal visualization depending on fetal position. Measurements were made using an axial view at the level of the orbits, with the fetal face positioned towards the transducer. The ONSD was measured 1.5 or 2 mm behind the papilla (depending on GA) in all fetuses. Mean ± 2 SD ONSD of controls were calculated for each GA and compared with data from the three fetuses with intracranial pathology. Results In the 42 normal fetuses, ONSD increased from 1.2 mm at 23 weeks to 2.6 mm at 36 weeks. The measurements at 36 weeks correlated well with those observed in newborns. ONSD measurements of the three cases were above mean + 2 SD of values obtained from healthy controls at the same GA and also exceeded values of fetuses that were 1 week older. Conclusions Fetal ONSD measurement is feasible using a technique similar to that used in adults and children. ONSD enlargement was observed in all three fetuses with intracranial lesions and may be an early tool with which to diagnose increased ICP. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Objectives To compare the outcomes of fetuses with apparently isolated macrocephaly and those with associated findings, and to compare prenatal findings with postnatal diagnoses in children with syndromic macrocephaly. Methods We reviewed the files of all patients referred for suspected fetal macrocephaly, during a 10-year period from 2000, to a large prenatal diagnosis unit with expertise in fetal neurology counseling. Macrocephaly was defined as head circumference (HC) > 2 SDs of the norm. Patients with confirmed HC > 2 SD were identified and contacted, and their development was evaluated. Results Adequate data for analysis were available for 98 patients, in 82 of whom the fetal macrocephaly was considered isolated (Group A), and in 16 of whom associated fetal anomalies were identified (Group B). Macrocephaly was diagnosed earlier in Group B patients (28.4 vs. 32.3 weeks, P = 0.069), and the HC in Group B patients was larger ( Z-score 2.95 vs. 2.3, P < 0.001). From Group A there were 81 liveborn; one of whom was diagnosed as having infantile autism. From Group B, there were nine liveborn. The associated central nervous system findings, as demonstrated by ultrasound and magnetic resonance imaging, included mild ventriculomegaly, malformations of cortical development, callosal abnormalities, overdeveloped sulcation, large cavum septi pellucidi, large subarachnoid spaces, mega cisterna magna, periventricular pseudocyst, open operculum and vermian dysgenesis. Syndromic diagnosis was made in utero in five fetuses and after birth in three. In eight patients, associated malformations were confirmed after birth but a specific diagnosis was not reached. Conclusions When fetal macrocephaly is associated with other brain or systemic anomalies, syndromic macrocephaly can be diagnosed in utero. Fetuses with syndromic macrocephaly have a significantly larger HC, usually > 2.5 SD above the mean. Isolated macrocephaly, particularly when the HC is < 2.5 SD above the norm, may be clinically benign. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

The article presents information on a study that evaluates the significance of a thick fetal corpus callosum. The methodology involves the review of records of fetuses with anomalies of the corpus callosum. Results show that cases have associated abnormalities like macrocephaly, ventriculomegaly, vermian agenesis, and abnormal sulcation. It concludes that a thick corpus callosum may be a sign of neurogenetic syndromes. Tables and figures elaborating the study are likewise shown.

Objective Malformations of cortical development (MCD) are rarely diagnosed in utero. We describe and compare the ultrasonographic and pathology findings in a cohort of fetuses with MCD. Methods Fetuses with MCD were identified among all fetuses evaluated for suspected brain anomalies at the Fetal Neurology Clinic, and the ultrasonographic findings were compared with the results of the pathology examination. Results We suspected the presence of MCD by ultrasonography in 23 fetuses. The mean gestational age at the time of ultrasound diagnosis was 26.2 (range, 18–40) weeks. The ultrasonographic findings leading to the diagnosis of MCD were abnormally overdeveloped gyri and sulci for gestational age (n = 7), delay in sulcation (n = 5), abnormally thin cortex (n = 5) abnormally wide and broad sulci (n = 3), bulging into the lateral ventricle (n = 1), cortical cleft (n = 1), and multiple intraparenchymal echogenic nodules (n = 1). All fetuses had associated central nervous system (CN8) and/or non-CNS anomalies. Pathology examination (performed in 17 fetuses) confirmed MCD in 16. Conclusions Cortical malformations can be diagnosed in utero by ultrasonography based on the presence of specific deviations from the normal pattern of development. The identified cases may represent the more severe forms in the MCD spectrum. The pathology findings do not always conform to the current classification systems of MCD but help in differentiating between possible genetic and acquired etiologies and in some cases provide a definitive syndromic diagnosis. [ABSTRACT FROM AUTHOR]

Objectives: Dandy-Walker complex is a continuum of developmental anomalies of the posterior fossa which includes vermian rotation. However, vermian rotation alone may be benign. The aim of this study was to describe our experience with sagittal-plane prenatal ultrasound in the diagnosis of rotation of the vermis in cases of suspected enlarged cisterna magna on routine antenatal imaging, and to describe the follow-up of these patients. Methods: Seven women, who were referred to our ultrasound unit for evaluation of an enlarged fetal cisterna magna and suspected agenesis of the vermis on axial-plane imaging, underwent further multiplanar studies of the posterior fossa and measurements of the vermis. Results: The mean maternal age was 27 (range, 20-33) years and the mean gestational age at diagnosis was 19.5 (range, 18-31) weeks. The standard axial plane image showed a 'direct communication' between the cisterna magna and the fourth ventricle. In the mid-sagittal plane, the vermis was clearly delineated, with posterosuperior rotation. Vermis size was within normal limits for gestational age in all cases. Findings were confirmed by prenatal magnetic resonance imaging (MRI) in two cases and postnatal MRI and/or sonography in five. During a mean follow-up of 4.5 (range, 1-7.5) years, all children developed normally, with no neurological complications. Conclusion: The finding of an enlarged cisterna magna on standard- (axial-)plane ultrasound should be evaluated further in the sagittal plane to determine whether the cause is rotation of a normal vermis. This may spare patients unnecessary tests, anxiety and, in some cases, pregnancy termination. [ABSTRACT FROM AUTHOR]

Objectives To evaluate whether fetal brain magnetic resonance imaging (MRI) adds useful clinical information to that obtained by dedicated fetal neurosonography using a combined transabdominal and transvaginal approach in fetuses with suspected brain anomalies. Methods In the 2-year period between January 2000 and January 2002, 42 fetuses underwent neurosonographic and MRI examinations of the brain. The referral indications were: asymmetric ventriculomegaly (13), ventriculomegaly (7), periventricular cysts (2), suspected midline findings (7), agenesis of the corpus callosum (3), infratentorial pathology (3), cytomegalovirus (CMV) infection (2) and miscellaneous indications (5). Results Neurosonography and MRI produced similar diagnoses in 29 fetuses: normal examination (10), isolated asymmetric ventriculomegaly (11), isolated ventriculomegaly (3), periventricular cysts (2), agenesis of the corpus callosum (1), pericallosal lipoma (1) and cerebellar hemorrhage (1). The neurosonographic diagnoses were more accurate in seven patients: hemimegalencephaly, pericallosal lipoma, signs of CMV infection, brain anomalies associated with agenesis of the corpus callosum and three fetuses with a normal ultrasound scan in which MRI suggested a parenchymal abnormality. MRI provided a more accurate diagnosis in three patients: a third ventricular dilatation was ruled out, normal ventricles in a fetus with an ultrasonographic finding of asymmetric ventricles, and diagnosis of progression of asymmetric ventriculomegaly. In three patients the identified pathologies were differently interpreted, each examination provided another aspect of the anomaly or a definitive diagnosis was not possible. Conclusions Our study demonstrated that dedicated neurosonography is equal to MRI in the diagnosis of fetal brain anomalies. In most of the cases MRI confirmed the ultrasonographic diagnosis; in a minority of cases each modality provided additional/different information. The major role of MRI was in reassurance of the parents regarding the presence or absence of brain anomalies. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective Periventricular pseudocysts (PVPC) are diagnosed in approximately 1% of premature newborns that undergo brain sonography during the first 24 h of life. These pseudocysts are thought to develop antenatally due to germinal matrix hemorrhage, but have not been described until now in prenatal ultrasound studies. The aim of this study was to report the identification, differential diagnosis, and prognosis of PVPC detected by prenatal ultrasound examination. Design Between 1997 and 2001 we made an ultrasound diagnosis of PVPC in 11 fetuses. In nine fetuses the findings were characteristic of PVPC and these patients represent our study group. Fetal magnetic resonance imaging was performed in five patients. Termination of pregnancy was carried out in three patients, in one case intrauterine fetal death occurred at 31 weeks, and one infant died in the neonatal period. The surviving four newborns are being followed in the pediatric neurology clinic. Results PVPC were diagnosed by ultrasound scan in fetuses between 16 and 37 weeks of gestation (mean, 29.7 weeks). Magnetic resonance imaging confirmed the presence of PVPC in two cases. In eight cases the pseudocysts were unilateral and in one case bilateral. They were an isolated finding in five patients. Four of these fetuses were delivered at term and have normal neurological development at ages ranging from 6 to 25 months. All fetuses with additional pathologies (coarctation of the aorta, hemimegalencephaly, cytomegalovirus infection, hypoplasia of the vermis with dysmorphism) did not survive. Conclusions The prenatal diagnosis of PVPC warrants an extensive search for possible associated pathological findings. As an isolated finding, antenatal PVPC seem to carry a good prognosis. [ABSTRACT FROM AUTHOR]

Fetal imaging findings (US, MRI or both) of fetuses with copy number variants (CNVs) or pathogenic/likely pathogenic sequence variants (SVs) were compared to the classical phenotype described by the literature. OC01.02: Genotype-phenotype correlation in fetuses with major brain malformations using whole-exome sequencing When performing fetal ultrasound (US) we are confronted with the difficult task of finding a correlation between imaging findings, diagnosis and prognosis. [Extracted from the article]

Irregularities in the lateral ventricles walls are considered a bad prognostic factor in fetuses with ventriculomegaly, suggesting an association with malformations of cortical development (MCD), ischemic, infectious insults or lesions of the ependyma. Neuropathological studies analysed the lateral ventricle walls and the surrounding parenchyma and cortex for the identification of the abnormal developmental or acquired process responsible for the neuroimaging findings. [Extracted from the article]

We retrospectively collected data from the OB-GYN US & Pediatric Radiology units, of fetuses, referred between 2000-2017 due to suspected central nervous system (CNS), posterior fossa (PF) & vermian anomalies. Of 447 fetuses with suspected PF anomalies diagnosed by neuro-US and/or MRI, 77 were considered isolated; 27 patients underwent termination of pregnancy (TOP) and 15 were lost to follow up. Twenty-six were diagnosed as having Blake's pouch cysts (BPC) (n = 24) or arachnoid cysts (n = 2), (Group I); the remaining nine had an isolated anomaly involving the vermis (IVA) (Group II). [Extracted from the article]

ABSTRACT A congenital fibrosarcoma, a very rare soft-tissue tumor of infancy, was suspected on prenatal ultrasound at 23 weeks’ gestation. On sonography, a large soft tissue growth on the left side of the fetal back, measuring 53 × 65 × 22 mm, was observed. The diagnosis was further validated by magnetic resonance imaging. Delivery by Cesarian section occurred at 31 weeks of gestation, due to fetal distress. The baby underwent an unusual embolization of the tumor-feeding arteries and an operation at the age of 1 month to remove the tumor. The pathological and cytogenetic examinations were consistent with the diagnosis of a fibrosarcoma. [ABSTRACT FROM AUTHOR]

The purpose of this study is to describe imaging findings in a group of fetuses with suspected ASP and to evaluate the clinical outcome of these children. In 17 patients the ASP was considered isolated and the remaining 30 had associated malformations involving the CNS (24) or other organs (6). 14 patients with isolated ASP were delivered, 13 are developing normally, one has developmental delay and three were lost to follow up. 13 patients with associated CNS malformation were delivered (normal development (5), abnormal (6) and no follow-up (2)). Current imaging techniques are not able to provide an accurate prognosis in cases when ASP appears isolated. [Extracted from the article]

Myhre syndrome, caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21, is a rare disorder characterised by mental retardation, dysmorphic facial features, typical skeletal anomalies and cardiovascular defects. Following a thorough genetic counselling interpeting the variant in the SMAD4 gene and the ultrasonographic findings as Myhre syndrome, at 35 weeks of gestation the parents elected termination of pregnancy. [Extracted from the article]

OP09.06: Subtle findings on fetal brain imaging in CMV-infected patients: what is the clinical significance? This is a retrospective study of the imaging results from fetuses diagnosed with inconclusive imaging findings on MRI, with or without additional ultrasound findings. The data obtained included: obstetric history; amniocentesis results; neurosonography and brain MRI findings; pre- and postnatal imaging. [Extracted from the article]

OC03.07: Prenatal diagnosis of malformations of cortical development associated to midbrain-hindbrain anomalies The aim of this study was to describe the prenatal neuroimaging features of MCD in fetuses with MB-HB anomalies. The present study is the first large series to demonstrate the common association between supratentorial malformations and MH-HB anomalies in fetuses, denoting an impairment of concurrent developmental brain processes. [Extracted from the article]

This retrospective study included fetuses with a confirmed RES diagnosis (postnatal imaging / postmortem study / neuroimaging expert consensus). Associated CNS and extra-CNS findings were observed in 93% and 34% of the fetuses, respectively. RES is a complex MB-HB anomaly which can be accurately diagnosed and characterised using prenatal imaging. [Extracted from the article]

Mutations of genes encoding tubulin are known to cause epilepsy, developmental delay and brain anomalies. The aim of this study was to describe the prenatal neuroimaging findings of patients with a TUBB3 mutation. [Extracted from the article]

The purpose of this study is to describe imaging findings in a group of fetuses with suspected arachnoid cyst and to evaluate the clinical outcome of these pregnancies. Whenever possible, the results were compared with postnatal findings at the clinical, imaging and/or pathology examinations. In our study, more than half of the children (9/17) needed surgery, mostly because of related symptoms (compression of the cyst on adjacent structures and hydrocephaly), but the neurological outcome was mostly good. [Extracted from the article]

An abstract of the article "The role of neurosonography and brain MRI in cases of primary CMV infection in pregnancy," by M. Falco and colleagues is presented.

An abstract of the article "Sonographic diagnosis of fetal developmental venous anomaly: persistent echogenic brain lesion drained by a prominent collecting vein," by Z. Leibovitz and colleagues is presented.

An abstract of the research paper "US volume navigation with fusion MR imaging, a novel approach for prenatal diagnosis," by G. Malinger and colleagues is presented.

An abstract of the research paper "Pericallosal Lipomas May Escape Visualization During the Second Trimester Scan," by G. Malinger and colleagues is presented.

An abstract of the article "Fetal optic nerve sheath measurement as a potential non-invasive tool for assessment of increased intracranial pressure," by K. K. Haratz and colleagues is presented.

An abstract of the conference paper "Evaluation of the curvature of fetal corpus callosum using MRI," by L. Gonen and colleagues is presented.

An abstract of the conference paper "Can syndromic macrocephaly be diagnosed in utero?," by F. Vinals and colleagues is presented.

An abstract of the conference paper "Does normal brain imaging predict normal neurodevelopmental outcome in fetuses with proven cytomegalovirus infection?," by N. Farkas, and colleagues is presented.

An abstract of the conference paper "Developmental outcome of children with a large cisterna magna diagnosed in-utero," by G. Malinger and colleagues is presented.