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Prenatal diagnoses of cystic malformations of the posterior fossa mainly encompass arachnoid cysts, Blake's pouch cysts and Dandy-Walker syndrome. To date, vermian cysts have not been reported prenatally.To report a series of fetuses with a vermian cyst.This was a single-center retrospective study conducted from 2012 to 2021. We included all fetuses presenting with a vermian cyst and excluded all other types of posterior fossa cyst. The cyst was visible at prenatal ultrasound (US) and/or magnetic resonance imaging (MRI). Postnatal imaging and/or clinical outcome data were available.Sixteen fetuses fulfilled the inclusion criteria with a strong female predominance (n=13). US and MRI were performed at a mean gestational age of 29+5 and 33+1 weeks, respectively. In all patients, the cyst was in the vermian horizontal fissure. The mean longest dimension was about 10 mm. The vermis and other posterior fossa structures were otherwise normal. At postnatal imaging, 13 children underwent brain imaging including 11 MRIs with complete regression (n=9), stability (n=1) and increase in size (n=3) of the cyst. Psychomotor development was normal in 14 children. One child (with an inner ear malformation) showed a slight delay in walking and language acquisition. Slight walking ataxia was present in another child.We report 16 fetuses with posterior fossa cysts located within the vermis at the level of the horizontal fissure, diagnosed at US and/or MRI and carrying an overall excellent neurological prognosis.

Item does not contain fulltext The indications for fetal body MRI are amplifying because of the expanding possibilities of fetal and perinatal therapy. However, huge heterogeneity regarding the indications for fetal body MRI is seen among different European countries that is mostly related to local use of US, but also to local fetal MRI expertise and legislation on pregnancy termination. The purpose of this article is to summarize the precise indications for fetal MRI, excluding the central nervous system. MRI indications arise from the sonographic findings, based on the operator's experience and the various practices in the countries and institutions represented on the European Society of Paediatric Radiology Fetal Task Force. We also highlight the strengths and weaknesses of fetal US and MRI of the fetal body. 01 februari 2023

Skeletal anomalies are rare, requiring a systematic ultrasound (US) examination of each skeletal part when there is suspicion of a skeletal dysplasia. Although US examination can provide good evaluation of the fetal bones and cartilage, ultra-low-dose three-dimensional (3-D) multi-detector computed tomography (CT) is a useful complementary tool that can significantly improve prenatal diagnostic accuracy in select cases. Given that ultra-low-dose fetal CT remains an irradiating technique, indications should result from a multidisciplinary consensus, acquisition protocols should be optimized and the reporting standardized. In this paper we discuss guidelines from the Fetal Imaging Task Force of the European Society of Paediatric Radiology for indications, protocols and reporting of ultra-low-dose fetal CT.

The gallbladder is not part of the standard survey of a fetus during obstetrical ultrasound. Yet, some anomalies can be detected. Most are clinically benign, but some are features of or associated with more serious complications. Biliary atresia constitutes the diagnosis with the worst prognosis. Its in utero diagnosis is difficult. Still, markers do exist and should be searched for. Knowledge of the normal appearances, variants and abnormalities of the gallbladder contributes to proper management. Any suspicion should lead to meticulous postnatal workup. Pre- or postnatal magnetic resonance imaging can provide additional information in select cases.

The cerebral cortex represents a laminar structure of precisely spatially organized neurons in horizontal layers and vertical columns. Neurogenesis, neuronal migration and neuronal wiring are tightly regulated and coordinated procedures that result in the accurate formation of the human cerebral cortex. Abnormal fetal corticogenesis results in several types of migration and gyration anomalies, known as malformations of cortical development, which have long been a topic of investigation. According to the stage of cortical development that is affected, with diverse genetic and non-genetic etiologies, these malformations can cause abnormal head size, abnormal brain surface and abnormal cortical layering with various degrees of neurodevelopmental delay and epilepsy. The pathogenesis of these malformations is multifactorial and includes genetic mutations or environmental insults, acquired either in utero at varying stages of brain development or during the perinatal period after corticogenesis. In this article, we focus on cortical malformations detected on fetal MRI. We present the main antenatal findings that should raise suspicion for malformations of cortical development, together with findings that might be missed on prenatal imaging and describe the correlations between fetal and postnatal MRI.

The Fetal Imaging Taskforce was established in 2018 by the European Society of Paediatric Radiology. The first survey on European practice of fetal imaging published in 2020 revealed that 30% of fetal magnetic resonance imaging (MRI) is performed at 3 tesla (T). The purpose of this second survey was to identify the impact of 3-T fetal MRI with an emphasis on image quality, diagnostic yield, and technical challenges and artifacts at higher field strengths.To describe the prenatal imaging practice at 3-T MRI units in various centres in Europe and to prepare recommendations on behalf of the Fetal Imaging Taskforce.A survey was sent to all members performing 3-T fetal MRI. Questions included practitioner experience, magnet brand, protocols, counselling, artifacts and benefits of imaging at higher field strengths.Twenty-seven centres replied and reported improved spatial resolution and improved signal-to-noise ratio when performing fetal MRI at 3 T. Shading and banding artifacts and susceptibility to motion artifacts were common problems identified by practitioners at the higher field strength. For all neurological indications, practitioners reported a benefit of imaging at 3 T, most marked for posterior fossa evaluation and parenchymal lesions.The use of 3-T magnets in fetal MRI has improved the availability and quality of advanced imaging sequences and allowed for better anatomical evaluation. There remain significant challenges to minimize the impact of artifacts on image quality. This paper includes guidelines for clinical practice and imaging at 3 T.

Introduction: we aim to correlate pre-and postnatal data regarding the cleft type and surgical prognostic factors associated to orofacial clefts. Methods: retrospective study concerning all cases of orofacial cleft evaluated prenatally (US+/-MRI) between 2015 and 2020 with available postnatal outcome. We compared prenatal imaging (cleft type and surgical prognostic factors) with postnatal findings. Results: 48 fetuses were included. Median gestational age at first US/MRI examination: 29WG+2D and 31WG+6D respectively. The prenatal diagnosis was in accordance with postnatal findings with regard to the cleft type in 88% of the cases (n=42/48) for US and/or MRI, 84% (n=38/45) for US only and 90% (n=37/41) for MRI only. The nasal septum deviation and nostril collapse were underestimated by prenatal US in 48% (n=12/25) and 44% (n=11/25) of cases respectively (Cohen’s kappa of 0.22 and 0.32 respectively). Pre-and postnatal examinations were in accordance in 75% of cases (n=8) regarding evaluation of anteroposterior maxillary shift in case of unilateral alveolar cleft and in 90% and 80% of cases (n=10) regarding the degree of protrusion/deviation of the premaxillary protrusion in case of bilateral cleft respectively. Conclusion: Prenatal imaging can accurately assess the type of orofacial cleft and evaluate maxillary shift and deviation of the premaxilla. It underestimates the nose deformity.

TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in TRPM3 were identified in individuals with developmental and epileptic encephalopathy, but the link between TRPM3 activity and neuronal disease remains poorly understood. We previously reported that two disease-associated variants in TRPM3 lead to a gain of channel function . Here, we report a further 10 patients carrying one of seven additional heterozygous TRPM3 missense variants. These patients present with a broad spectrum of neurodevelopmental symptoms, including global developmental delay, intellectual disability, epilepsy, musculo-skeletal anomalies, and altered pain perception. We describe a cerebellar phenotype with ataxia or severe hypotonia, nystagmus, and cerebellar atrophy in more than half of the patients. All disease-associated variants exhibited a robust gain-of-function phenotype, characterized by increased basal activity leading to cellular calcium overload and by enhanced responses to the neurosteroid ligand pregnenolone sulfate when co-expressed with wild-type TRPM3 in mammalian cells. The antiseizure medication primidone, a known TRPM3 antagonist, reduced the increased basal activity of all mutant channels. These findings establish gain-of-function of TRPM3 as the cause of a spectrum of autosomal dominant neurodevelopmental disorders with frequent cerebellar involvement in humans and provide support for the evaluation of TRPM3 antagonists as a potential therapy.

Resume Introduction Les anomalies d’insertion placentaire (AIP) constituent l’une des principales causes de morbidite du peri-partum. Elles concernent 3,4 patientes pour 1000 accouchements. La recherche des facteurs de risque (uterus cicatriciel, placenta praevia) et leur identification en imagerie (echographie et eventuellement IRM) avant l’accouchement permettent de guider la prise en charge obstetricale. Donnees recentes L’echographie est l’examen de premiere intention. Les signes evocateurs sont l’interruption du lisere clair retroplacentaire, les lacunes placentaires ainsi que les anomalies doppler. L’IRM est actuellement un outil de seconde intention lorsque le diagnostic est incertain ou que le bilan d’extension dans la paroi myometriale ou les parametres est incomplet en echographie. Le terme ideal pour la realisation de cette IRM est autour de la 30e semaine de grossesse. Les principaux signes a rechercher sont des bandes sombres en T2, un bombement placentaire et l’interruption du lisere retroplacentaire. Conclusion Le diagnostic d’une anomalie d’insertion placentaire repose sur les donnees anamnestiques et de l’imagerie. Sa prise en charge releve d’une equipe entrainee au sein de centres specialises.

PurposeIn this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes,CC2D2A.MethodsWe selected 53 patients with pathogenic variants onCC2D2A, compiled and analysed their clinical, neuroimaging and genetic information and compared it to previous literature.ResultsDevelopmental delay (motor and language) was nearly constant but patients had normal intellectual efficiency in 74% of cases (20/27 patients) and 68% followed mainstream schooling despite learning difficulties. Epilepsy was found in only 13% of cases. Only three patients had kidney cysts, only three had genuine retinal dystrophy and no subject had liver fibrosis or polydactyly. Brain MRIs showed typical signs of JS with rare additional features. Genotype–phenotype correlation findings demonstrate a homozygous truncating variant p.Arg950* linked to a more severe phenotype.ConclusionThis study contradicts previous literature stating an association betweenCC2D2A-related JS and ventriculomegaly. Our study implies thatCC2D2A-related JS is linked to positive neurodevelopmental outcome and low rate of other organ defects except for homozygous pathogenic variant p.Arg950*. This information will help modulate patient follow-up and provide families with accurate genetic counselling.

In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes,We selected 53 patients with pathogenic variants onDevelopmental delay (motor and language) was nearly constant but patients had normal intellectual efficiency in 74% of cases (20/27 patients) and 68% followed mainstream schooling despite learning difficulties. Epilepsy was found in only 13% of cases. Only three patients had kidney cysts, only three had genuine retinal dystrophy and no subject had liver fibrosis or polydactyly. Brain MRIs showed typical signs of JS with rare additional features. Genotype-phenotype correlation findings demonstrate a homozygous truncating variant p.Arg950* linked to a more severe phenotype.This study contradicts previous literature stating an association between

Objective To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive of cerebral injury. Methods This was a single-center retrospective analysis of all cases of fetal cerebral anomalies suggestive of COL4A1 or COL4A2 gene mutation over the period 2009-2018. Inclusion criteria were: (1) severe and/or multifocal hemorrhagic cerebral lesions; (2) multifocal ischemic-hemorrhagic cerebral lesions. These anomalies could be of different ages and associated with schizencephaly or porencephaly. Between fetuses with and those without a mutation, we compared gestational age at the time of diagnosis, parity and fetal gender. Results Among the 956 cases of cerebral anomaly diagnosed in our center during the 10-year study period, 18 fetuses were identified for inclusion. A pathogenic COL4A1 gene mutation was found in five of these cases, among which four were de-novo mutations. A variant of unknown significance was found in four fetuses: in the COL4A1 gene in one case and in the COL4A2 gene in three cases. No COL4A1 or COL4A2 mutation was found in the remaining nine fetuses. The median (interquartile range) gestational age at diagnosis was significantly lower in cases with a mutation (24 (22-26) weeks) than in cases without a mutation (32 (29.5-34.5) weeks) (P = 0.03). Conclusions A phenotype suggestive of cerebral injury was found in 18 of the 956 (1.9%) cases in our population, in 28% of which there was an associated COL4A1 or COL4A2 mutation. COL4A1 and COL4A2 gene mutations should be sought systematically in cases of severe and/or multifocal hemorrhagic or ischemic-hemorrhagic cerebral lesions, with or without schizencephaly or porencephaly. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Introduction Multiple intestinal atresia (MIA) is a rare cause of neonatal intestinal obstruction. To provide an overview of the current prenatal, surgical, and nutritional management of MIA, we report our experience and a literature review of papers published after 1990. Methods All cases of isolated MIA (non-hereditary, not associated with apple-peel syndrome or gastroschisis) treated at our institution between 2005 and 2016 were reviewed and compared with cases found in the literature. Results Seven patients were prenatally suspected of having intestinal obstruction and were postnatally diagnosed with MIA, with a mean 1.7 (1–2) resections–anastomoses (RA) and 6 (1–10) strictureplasties performed, resulting in a mean resected bowel length of 15.1 cm (15–25 cm). Median time to full oral feed was 46 days (14–626 days). All patients were alive and none had orality disorder after a mean follow-up of 3.1 years (0.2–8.1 years). Three surgical strategies were found in the literature review: multiple RA (68%, 34/50) including Santulli's technique in four of 34 (12%) and anastomoses over a transanastomotic tube (32%, 16/50), with a 98% survival rate, and short-bowel syndrome for only two patients. Conclusion Bowel-sparing surgery and appropriate medical management are key to ensuring a favorable nutritional and gastrointestinal outcome and a good prognosis. Prenatal assessment and standardization of the surgical course of treatment remain challenging.

To illustrate the prenatal imaging cerebral features associated with tubulinopathies, we report the data of five affected individuals from unrelated families with de novo heterozygous variants in tubulin genes (TUBA1A, TUBB2B, or TUBB3). We identified two distinct prenatal imaging patterns related to tubulinopathies: a severe form, characterized by voluminous germinal matrices, microlissencephaly, and a kinked brainstem, and a mild prenatal form which has not previously been reported in the prenatal literature. This latter form is associated with non-specific features, including an asymmetric brainstem, distortion of the anterior part of the interhemispheric fissure with subsequent impacted medial borders of the frontal lobes, callosal dysgenesis, and a lack of Sylvian fissure operculation, the combination of which is highly suggestive of tubulinopathies, in the absence of additional extra-cerebral anomalies. This article is protected by copyright. All rights reserved.

Renal oligohydramnios (ROH) is caused by bilateral congenital abnormalities, either of renal parenchymal or obstructive origin. ROH is a poor prognostic factor of neonatal survival; lung hypoplasia is reported to be the main cause of mortality. We aimed to describe the fetal morbidity and pre- and postnatal mortality in case of ROH due to renal congenital pathologies and to find predictive risk factors for morbidity and mortality.All data were collected in Trousseau Hospital in the obstetric, neonatology, and pediatric nephrology units, from 2008 to 2020.We included 66 fetuses with renal parenchymal pathologies posterior urethral valves (PUV) (N = 25), bilateral kidney agenesis (N = 10), hypodysplasia (N = 16), and polycystic kidney disease (N = 10) causing oligohydramnios identified on antenatal ultrasound. Total pre- and postnatal mortality was 76% (50/66). Mortality, excepting termination of pregnancy (TOP), was 65%. The presence of pneumomediastinum and pneumothorax was not different in survivors and non-survivors. Fetuses with kidneys having features of hypodysplasia on ultrasound at T2 and those with oligohydramnios before 32 weeks GA had a higher risk of death. There was a significant difference in plasma creatinine of the surviving patients compared to the deceased patients, from day 3 onwards (183 µmol/L [88; 255] vs. 295 µmol/L [247; 326]; p = 0.038).The main differences between survivors and non-survivors among patients with "renal oligohydramnios" were oligohydramnios detection before 32 weeks GA, dysplasia detection on the second trimester ultrasound, and increase of serum creatinine from day 3 onwards. A higher resolution version of the Graphical abstract is available as Supplementary information.

Pontocerebellar hypoplasias (PCHs) are congenital disorders characterized by hypoplasia or early atrophy of the cerebellum and brainstem, leading to a very limited motor and cognitive development. Although over 20 genes have been shown to be mutated in PCHs, a large proportion of affected individuals remains undiagnosed. We describe four families with children presenting with severe neonatal brainstem dysfunction and pronounced deficits in cognitive and motor development associated with four different bi-allelic mutations in PRDM13, including homozygous truncating variants in the most severely affected individuals. Brain MRI and fetopathological examination revealed a PCH-like phenotype, associated with major hypoplasia of inferior olive nuclei and dysplasia of the dentate nucleus. Notably, histopathological examinations highlighted a sparse and disorganized Purkinje cell layer in the cerebellum. PRDM13 encodes a transcriptional repressor known to be critical for neuronal subtypes specification in the mouse retina and spinal cord but had not been implicated, so far, in hindbrain development. snRNA-seq data mining and in situ hybridization in humans show that PRDM13 is expressed at early stages in the progenitors of the cerebellar ventricular zone, which gives rise to cerebellar GABAergic neurons, including Purkinje cells. We also show that loss of function of prdm13 in zebrafish leads to a reduction in Purkinje cells numbers and a complete absence of the inferior olive nuclei. Altogether our data identified bi-allelic mutations in PRDM13 as causing a olivopontocerebellar hypoplasia syndrome and suggest that early deregulations of the transcriptional control of neuronal fate specification could contribute to a significant number of cases.

Prenatal diagnosis of bone and mineralization anomalies is associated with a wide range of etiologies and prognoses. The improvement of antenatal ultrasound combined with the development of molecular diagnosis in genetics has transformed antenatal medicine into a challenging discipline. Of the various known causes of bone abnormalities and hypomineralization, calcium and phosphate metabolism disorders are exceptional. An accurate diagnosis is crucial for providing appropriate genetic counseling and medical follow-up after birth.We report on three siblings with severe bone abnormalities diagnosed during the second trimester ultrasound of pregnancy. Postnatal follow-up showed transitory hyperparathyroidism, with hypercalcemia and hypocalciuria.Sanger sequencing performed after birth in the three newborns revealed a monoallelic pathogenic variant in the CASR gene, encoding the calcium sensing receptor, confirming the diagnosis of familial hypocalciuric hypercalcemia, paternally inherited. Postnatal evolution was favorable after treatment with a calcimimetic agent.Previously, prenatal bone abnormalities caused by familial hypocalciuric hypercalcemia had only been described in one patient. This entity should be considered as differential diagnosis of bones abnormalities. Knowing about this unusual etiology is important to guide the diagnosis, the prenatal counseling and to improve medical management.

International audience; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnostic yield using chromosomal microarray (CMA) and exome sequencing (ES) in cases with prenatally diagnosed isolated (iAbnCC) and nonisolated AbnCC (niAbnCC).Methods: CMA and prenatal trio ES (pES) were done on 65 fetuses with iAbnCC and niAbnCC. Only pathogenic gene variants known to be associated with AbnCC and/or intellectual disability were considered.Results: pES results were available within a median of 21.5 days (9-53 days). A pathogenic single-nucleotide variant (SNV) was identified in 12 cases (18%) and a pathogenic CNV was identified in 3 cases (4.5%). Thus, the genetic etiology was determined in 23% of cases. In all diagnosed cases, the results provided sufficient information regarding the neurodevelopmental prognosis and helped the parents to make an informed decision regarding the outcome of the pregnancy.Conclusion: Our results show the significant diagnostic and prognostic contribution of CMA and pES in cases with prenatally diagnosed AbnCC. Further prospective cohort studies with long-term follow-up of the born children will be needed to provide accurate prenatal counseling after a negative pES result.

The aim of this study was to identify specific unusual prenatal ultrasound (US) patterns of the adrenal gland and to propose a systematic approach for diagnosis. Six fetuses with unusual aspects of one or both adrenal glands, detected during routine prenatal US screening, were evaluated. Prenatal and postnatal management are described. A checklist of US features was created to perform a detailed analysis of adrenal lesions and guide prenatal management; this includes the time of appearance, location, growth, vascularization, structure, and presence of findings suggestive of malignancy.

International audience; Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usually have developmental delay and intellectual disability (ID), associated with various cerebral and extra-cerebral malformations. Invdupdel(8p) is the most common recurrent chromosomal rearrangement in ID patients with anomalies of the corpus callosum (AnCC). Only a minority of invdupdel(8p) cases reported in the literature to date had both brain cerebral imaging and chromosomal microarray (CMA) with precise breakpoints of the rearrangements, making genotype-phenotype correlation studies for AnCC difficult. In this study, we report the clinical, radiological, and molecular data from 36 new invdupdel(8p) cases including three fetuses and five individuals from the same family, with breakpoints characterized by CMA. Among those, 97% (n = 32/33) of patients presented with mild to severe developmental delay/ID and 34% had seizures with mean age of onset of 3.9 years (2 months-9 years). Moreover, out of the 24 patients with brain MRI and 3 fetuses with neuropathology analysis, 63% (n = 17/27) had AnCC. We review additional data from 99 previously published patients with invdupdel(8p) and compare data of 17 patients from the literature with both CMA analysis and brain imaging to refine genotype-phenotype correlations for AnCC. This led us to refine a region of 5.1 Mb common to duplications of patients with AnCC and discuss potential candidate genes within this region.

OBJECTIVE Sonographic diagnosis of short corpus callosum (SCC) is based on measurement of a short for gestational age antero-posterior length of the corpus callosum (CC) in the midsagittal plane. We suggest a new method for evaluating SCC without referring to biometry tables. METHODS We measured the ratio between the CC length and the internal cranial occipitofrontal dimension (ICOFD) in the midsagittal plane in 399 normal fetuses at 20 + 6 to 35 + 3 weeks of gestation and in 31 fetuses with a diagnosis of a SCC and compared the mean ratio between two groups. The impact of cephalic biometric parameters, fetal presentation, and gender was assessed. RESULTS The ICOFD/CC length for normal pregnancies was constant throughout the pregnancy (2.35 ± 0.11). There was no correlation between the ICOFD/CC length and cephalic index, Biparietal Diameter (BPD), head circumference, fetal sex, or fetal presentation. The ratio of pregnancies with SCC was significantly higher: 3.20 ± 0.84 (P < .0001). CONCLUSION The ICOFD/CC length practically does not change throughout a normal pregnancy. The ratio was significantly higher in pregnancies with SCC. Measuring this ratio during fetal anatomical scan may enable rapid evaluation of the CC without the need to refer to biometry tables.

A wide range of genitourinary pathologies can be diagnosed in utero, from a simple vesicoureteral reflux to a more complex disorder of sexual differentiation. The prognosis and neonatal management of these conditions differ significantly. Evaluation of the fetal perineal anatomy is paramount to making the right diagnosis. The aim of this pictorial essay is to show sonographers how to acquire a perineal midsagittal view in a male fetus, and to demonstrate how this specific view allows assessment of the urethra and penis, to differentiate various genitourinary pathologies.

Resume Objectifs Les calcifications intra-abdominales (iA) retrouvees lors d’une echographie obstetricale peuvent etre isolees ou associees a d’autres anomalies. Notre objectif etait d’etudier tous les cas de calcifications iA isolees echographiquement pris en charge dans notre centre, en decrivant leur localisation precise, leur bilan etiologique et l’issue neonatale associee. Methodes Nous avons realise une etude monocentrique retrospective descriptive sur les nouveau-nes ayant eu un diagnostic de calcification iA isolee en echographie de reference antenatale ainsi qu’un avis au centre pluridisciplinaire de diagnostic prenatal a l’hopital Trousseau et nes entre le 1er janvier 2008 et le 30 juin 2018. Les criteres d’exclusion etaient : les calcifications retro-peritoneales, les calcifications iA associees a des anomalies digestives ou autres malformations congenitales. Resultats Les 32 cas de calcifications iA isolees representaient 46 % de toutes les calcifications iA. Apres exclusion de 9 dossiers pour donnees neonatales manquantes, parmi les 23 cas de calcifications isolees, 15 concernaient des calcifications hepatiques, 5 des peri-hepatiques et 2 des peritoneales. Un fœtus etait porteur a la fois de calcifications intra- et peri-hepatiques. La majorite des calcifications sont restees stables tout au long de la grossesse. Aucun cas d’aneuploidie, de fœtopathie infectieuse, ni de mucoviscidose n’a ete retrouve. L’issue neonatale de tous ces enfants a ete favorable. Conclusions En cas de calcification iA paraissant isolee apres echographie de reference et stable sur plusieurs echographies, apres avoir elimine une fœtopathie infectieuse et recherche les mutations les plus frequentes de la mucoviscidose chez les parents, le pronostic est favorable.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease. This pathology has been increasingly diagnosed in utero and several sonographic patterns are well described in the literature. To present a series of fetuses with an unusual imaging pattern of ADPKD, mimicking autosomal recessive polycystic kidney disease (ARPKD). We retrospectively reviewed second-line ultrasound (US) scans performed for suspicion of fetal kidney pathology between 2006 and 2018. Inclusion criteria were (1) proven ADPKD on the basis of a known family history and/or of genetic testing and (2) US features suggestive of ARPKD. We recorded the clinical, imaging, genetic and pathological findings in cases with pregnancy termination. Three out of 12 patients with proven ADPKD diagnosed in utero presented with US features suggestive of ARPKD. Furthermore, an additional patient observed at another institution was added to the series. History of familial ADPKD was present in three cases. US showed enlarged kidneys with increased cortical echogenicity, decreased corticomedullary differentiation, multiple medullary cysts and decreased amniotic fluid in all four cases. Pregnancy was terminated in two cases (histology confirmed features in keeping with ADPKD), one premature neonate died (histology in progress) and one child is alive. Genetic testing showed a homozygous mutation of the PKD1 gene in two patients, a heterozygous mutation of the PKD1 gene in one patient and was not performed in the remaining patient. This series describes an unusual sonographic prenatal presentation of ADPKD, not yet well described in the radiologic literature, mimicking ARPKD.

Objectives: The aim of the study was to report a subtype of dysraphism designated as myelic limited dorsal malformation (MyeLDM) and to describe its characteristics at prenatal ultrasound (US). Methods: It was a retrospective study from 2014 to 2020 based on second-line US evaluation of patients referred to our institution for myelomeningocele (MMC). Magnetic resonance imaging and acetylcholine esterase evaluation in the amniotic fluid were also offered. Major and minor criteria for open and closed dysraphism were defined and recorded for each patient. Patients were included as MyeLDM when both criteria of closed and open dysraphism were observed in the same fetus. Correlations were obtained with the postpartum data. Results: Twenty patients fulfilled the inclusion criteria, some of them being very close to MMC, others very close to limited dorsal myeloschisis (LDM), and others lying in between. There were 13 live-born neonates and 7 terminations of pregnancy. Correlations between prenatal and postpartum data were overall very good. Conclusion: Our series describe the ultrasonographic characteristics of an intermediate type of dysraphism and suggest that there is a continuum between MMC and LDM with numerous possibilities of hybrid forms (MyeLDM) sharing characteristics of both open and closed dysraphisms.

International audience; Introduction: - Open fetal myelomeningocele (MMC) surgery is currently the standard of care option for prenatal MMC repair. We described the population referred to our center and reviewed outcome after open fetal MMC repair.Material and methods: - All patients referred to our center for MMC were reviewed from July 2014 to June 2020. For all the patients who underwent fetal MMC repair, surgical details, maternal characteristics and data from the neonatal to the three-years-old evaluations were collected.Results: - Among the 126 patients referred to our center, 49.2% were eligible and 27.4% (n=17) of them underwent fetal MMC repair. Average gestational age at fetal surgery was 24+6 weeks. There was no case of fetal complication and the only maternal complication was one case of transfusion. We recorded 70% of premature rupture of membranes and 47% of premature labor. Average gestational age at delivery was 34+2 weeks and no patient delivered before 30 weeks. There was no case of uterine scar dehiscence or maternal complication during cesarean section. After birth, 59% of the children had a hindbrain herniation reversal. At 1-year-old, 42% were assigned a functional level of one or more better than expected according to the prenatal anatomic level and 25% required a ventriculoperitoneal shunt. At 3-year-old, all the children attended school and 75% were able to walk with orthotics or independently.Conclusion: - Open fetal surgery enables anatomical repair of the MMC lesion, a potential benefit on cerebral anomalies and motor function, with a low rate of perinatal and maternal complications.

Item does not contain fulltext Fetal central nervous system MRI is a well-established method to complement a high-quality fetal ultrasound and to clarify sonographically detected abnormalities in complex pregnancies. However, there is still worldwide heterogeneity and confusion regarding the indications of fetal central nervous system MRI, which has roots in differences among countries regarding the performance of ultrasound examinations and legislation on pregnancy termination. The purpose of this article is to clarify the indications for fetal central nervous system MRI by focusing on the ultrasound findings that guide further investigation with MRI and highlight the strengths and the weaknesses of each modality on imaging the fetal central nervous system.

International audience; Objective: To investigate cerebral anomalies other than Chiari type 2 malformation in fetuses with myelomeningocele (MMC).Design: A retrospective cohort study in a single tertiary centre.Setting: A review of associated cerebral anomalies in cases with prenatal diagnosis of myelomeningocele.Population: Seventy cases of fetal myelomeningocele.Methods: Ultrasound and MRI images were blindly reviewed. Postnatal imaging and results of the postmortem results were also reviewed. The association between cerebral anomalies and the following ultrasound findings was measured: level of the defect, ventriculomegaly, microcephaly and fetal talipes.Main outcome measures: A microcephaly was observed in 32/70 cases (46%) and a ventriculomegaly was observed in 39/70 cases (56%). Other cerebral anomalies were diagnosed in 47/70 (67%).Results: Other cerebral anomalies were represented by 42/70 cases with abnormal CC (60%), 8/70 cases with perinodular heterotopia (PNH; 11%), 2/70 cases with abnormal gyration (3%). MRI performed only in fetal surgery cases confirmed the ulltrasound findings in all cases and provided additional findings in two cases (PNH). Risk ratios of fetal cerebral anomalies associated with MMC did not reach significance for microcephaly, ventriculomegaly, talipes or the level of the defect There was an overall good correlation between pre- and postnatal findings with a Kappa value of 0.79 [95% CI 0.57-1] and 82% agreement.Conclusion: Fetal brain anomalies other than Chiari type 2 malformation are frequently observed in fetuses with myelomeningocele, predominantly represented by CC anomalies. Whether these associated cerebral anomalies have an impact on selecting cases eligible for fetal surgery needs further evaluation.Tweetable abstract: Fetal cerebral anomalies other than Chiari type 2 malformation, microcephaly, and ventriculomegaly may be associated with MMC in up to 67% of the cases.

A wide range of craniofacial malformations can be diagnosed in utero using ultrasonography. However, even with highly experienced sonographers and diagnostic physicians and optimal conditions of examination, some anatomical structures cannot be properly analyzed by this technique. The aim of this pictorial essay is to show the additional value of fetal magnetic resonance imaging and computed tomography in this setting and to illustrate the role of these modalities in facial clefts; craniosynostosis; ear, eye and nose abnormalities; otomandibular dysplasias; and facial cephaloceles.

A new task force dedicated to prenatal imaging was created in 2018 by the European Society of Pediatric Radiology. In order to establish a network of European prenatal imaging practice, we sent a questionnaire to radiologists practicing prenatal imaging in Europe. The questions were related to the type of institution, the local legislation for termination of pregnancy, the type of imaging modality and the following items regarding magnetic resonance imaging (MRI): magnetic field, gestational age at which it is performed, use of maternal sedation, number of examinations per year, proportion of cerebral versus body indications and proportion of repeated examinations. We collected responses from 20 European countries, 52 cities and 67 institutions (82% public). In most countries, the upper gestational age limit for termination of pregnancy is 24 weeks of gestation. In some countries, it is earlier and in other countries, there is no limit. Very few radiologists practice fetal ultrasonography and computed tomography. In some countries, fetal MRI is mainly performed before 24 weeks of pregnancy, while in others, it is mainly performed in the third trimester. Neurological indications are by far predominant and 30% of the institutions have access to a 3-tesla (T) unit for fetal MRI. Maternal sedation is rarely used. The number of scans per year is highly variable with an average of 140, which is not necessarily correlated to the size of the population.

Objective: To emphasize the need for analyzing the pelvis when a unilateral multicystic dysplastic kidney (MCDK) is observed at prenatal ultrasonography (US) because of possible associated ectopic ureteral insertion. Methods: We performed a retrospective study including prenatal US diagnosis of unilateral MCDK and retrovesical cyst. The following data were recorded: pre- and postnatal US, magnetic resonance imaging (MRI), and voiding cystourethrography (VCUG) findings. The shape of the pelvic cyst was analyzed as well as the visibility of the ureteral insertion into the cyst. Results: Fourteen patients were included (7 females). At prenatal US, the cyst wall was smooth in 8 cases (6 females) and lobulated in 5 cases (4 males). In 1 case it protruded into the bladder. Ectopic ureteral insertion was observed in 2 cases. Prenatal MRI (n = 6) depicted ureteral insertion in 2 more cases. Postnatal US (n = 14) showed the same cyst patterns as prenatally, ectopic ureteral insertion (n = 8), and duplicated uterus (n = 4). Postnatal MRI (n = 7) always depicted the ureteral ectopic insertion into the cyst. VCUG (n = 5) showed indirect findings of ectopic ureteral insertion (n = 3). Conclusion: Unilateral MCDK should lead to search for a retrovesical cyst corresponding most commonly to a distended hemivagina or a seminal vesicle. Early diagnosis of this condition leads to better clinical management.

Evaluation of subcutaneous fetal fat layer thickness on T1-weighted sequences can be used to predict birth weight. Little is known about normal MR signal patterns of subcutaneous tissue throughout pregnancy. To establish developmental patterns of subcutaneous fetal fat signal on T1-weighted sequences during the 2nd and 3rd trimesters. We retrospectively examined T1-weighted images of 110 fetal MRI scans. We measured signal intensity of subcutaneous fat on thighs, buttocks, trunk, nuchal region, chin and scalp. We then calculated the ratios of the obtained values with fetal muscle, amnios and maternal fat signal, and compared the results with those of immunohistochemical examination of adipose tissue extracted from the abdominal wall of fetuses as part of standard autopsy protocol. We included 60 MRI scans in fetuses without intra-uterine growth restriction or macrosomia of non-diabetic mothers (range 23–37 weeks of gestation). Fat T1 intensity of all anatomical regions was low in all fetuses before 26 weeks of gestation. It became more hyperintense with increasing gestational age, in the following order: chin and nuchal region, then buttocks, thighs and trunk, and eventually the scalp at 33 weeks of gestation. After 33 weeks of gestation, all fetal subcutaneous tissues demonstrated overall hyperintense signal. This progression followed the conversion at immunohistochemistry of fetal adipose tissue composition from predominant brown to white adipose cells in 19 fetuses (19–41 weeks of gestation). Between 26 weeks and 33 weeks of gestation, subcutaneous fetal fat signal changed in an orderly pattern from chin to buttocks and scalp. This may reflect the conversion from predominant brown to white adipose tissues in subcutaneous fetal fat.

Objectives: To describe the prenatal imaging findings in pontine tegmental cap dysplasia (PTCD), a rare congenital malformation of the hindbrain so far reported postnatally only and characterized by a typical appearance of the pons with malformations of the vermis and the cerebellar peduncles. Methods: This retrospective multicenter study retrieved 4 cases of PTCD over a 10-year period. Prenatal ultrasonography and fetal magnetic resonance imaging (MRI) findings were reviewed and compared to postnatal or postmortem data. Results: In all cases, the parents were referred between 22 and 27 weeks of gestation for characterization of a small cerebellar diameter Conclusion: PTCD is a differential diagnosis of pontocerebellar hypoplasia and should be discussed on prenatal MRI in the presence of the tegmental cap protruding into the fourth ventricle.

Resume Les kystes arachnoidiens supra-sellaires (KASS) de l’enfant sont consideres comme rares, mais leur incidence augmente du fait de l’amelioration des diagnostics prenataux. Nous presentons 15 KASS de decouverte antenatale entre 2005 et 2015. Les dossiers ont ete revus retrospectivement en precisant les caracteristiques radiologiques, les modalites de traitement, les resultats et le suivi a long terme. Le suivi moyen etait de 71 mois. Les formes hautes (KASS-1) regroupaient 2 cas (13 %) presentant une hydrocephalie. Nous avons observe 8 (53 %) formes basses (KASS-2) avec dilatation de la citerne interpedonculaire sans hydrocephalie. Les formes asymetriques (KASS-3) concernaient les 5 (33,5 %) patients restants. Six patients (40 %) ont ete traites par ventriculo-kysto-cisternostomie, dont 1 par fœtoscopie, 1 (6,5 %) par derivation ventriculo-peritoneale, 2 (13,5 %) par abord pterional et 6 (40 %) ont simplement ete suivis. Les suites chirurgicales ont ete favorables initialement dans 9 cas (100 %), 1 patient (13 %) a du etre retraite ulterieurement. Les patients non operes etaient tous de type 2 et n’ont presente aucune modification radiologique. A long terme, 1 patient (6,5 %) avait des perturbations endocriniennes, 1 un retard de developpement, 2 (13,5 %) des alterations neuropsychologiques mineures et 1 une comitialite. Le suivi antenatal combine par IRM et echographie permet distinguer trois sous-types de KASS. Les KASS-1 et KASS-3 sont d’excellent pronostic apres traitement dans la periode perinatale. Les KASS-2 peuvent beneficier d’une simple surveillance et restent en majorite asymptomatiques. Cette classification permet une meilleure estimation pronostique ainsi qu’une meilleure decision therapeutique.

To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify new CA genes. Singleton -exome sequencing on these 20 well-clinically characterized CA patients. We first checked for rare homozygous pathogenic variants, then, for variants from a list of genes known to be associated with CA or very early-onset ataxia, regardless of their mode of inheritance. Our replication cohort of 180 CA patients was used to validate the new CA genes. We identified a causal gene in 16/20 families: six known CA genes (7 patients); four genes previously implicated in another neurological phenotype (7 patients); two new candidate genes (2 patients). Despite the consanguinity, 4/20 patients harbored a heterozygous de novo pathogenic variant. Singleton exome sequencing in 20 consanguineous CA families led to molecular diagnosis in 80% of cases. This study confirms the genetic heterogeneity of CA and identifies two new candidate genes (PIGS and SKOR2). Our work illustrates the diversity of the pathophysiological pathways in CA, and highlights the pathogenic link between some CA and early infantile epileptic encephalopathies related to the same genes (STXBP1, BRAT1, CACNA1A and CACNA2D2).

Journal de Gynecologie Obstetrique et Biologie de la Reproduction - Vol. 45 - N° 7 - p. 738-744

Objectives Diagnosis of isolated posterior fossa anomalies in children is biased by the fact that only those that are symptomatic are brought to the attention of the appropriate clinical personnel, and the reported rate is often affected by the adoption of different nomenclature, diagnostic criteria, outcome measures, duration of follow-up and neurodevelopmental tools. The aim of this systematic review was to explore the neurodevelopmental outcome of fetuses with a prenatal diagnosis of isolated posterior fossa anomalies. Methods MEDLINE and EMBASE were searched electronically, utilizing combinations of the relevant medical subject heading terms for ‘posterior fossa’ and ‘outcome’. Studies assessing the neurodevelopmental outcome in children with a prenatal diagnosis of isolated posterior fossa malformations were considered eligible. The posterior fossa anomalies analyzed included Dandy–Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC) and vermian hypoplasia (VH). Two authors reviewed all abstracts independently. Quality assessment of the included studies was performed using the Newcastle–Ottawa Scale for cohort studies. Meta-analyses of proportions were used to combine data, and between-study heterogeneity was explored using the I2 statistic. Results A total of 1640 articles were identified; 95 were assessed for eligibility and a total of 16 studies were included in the systematic review. The overall rate of abnormal neurodevelopmental outcome in children with a prenatal diagnosis of DWM was 58.2% (95% CI, 21.8–90.0%) and varied from 0–100%. In those with a prenatal diagnosis of MCM, the rate of abnormal neurodevelopmental outcome was 13.8% (95% CI, 7.3–21.9%), with a range of 0–50%. There was no significant association between BPC and the occurrence of abnormal neurodevelopmental delay, with a rate of 4.7% (95% CI, 0.7–12.1%) and range of 0–5%. Although affected by the very small number of studies, there was a non-significant occurrence of abnormal neurodevelopmental delay in children with a prenatal diagnosis of VH, with a rate of 30.7% (95% CI, 0.6–79.1%) and range of 0–100%. Conclusions Fetuses diagnosed with isolated DWM are at high risk of abnormal neurodevelopmental outcome, while isolated MCM or BPC have a generally favorable outcome. The risk of abnormal developmental delay in cases with isolated VH needs to be further assessed. In view of the wide heterogeneity in study design, time of follow-up, neurodevelopmental tests used and the very small number of included cases, further future large prospective studies with standardized and objective protocols for diagnosis and follow-up are needed in order to ascertain the rate of abnormal neurodevelopmental outcome in children with isolated posterior fossa anomalies. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Objective To explore the outcome in fetuses with prenatal diagnosis of posterior fossa anomalies apparently isolated on ultrasound imaging. Methods MEDLINE and EMBASE were searched electronically utilizing combinations of relevant medical subject headings for ‘posterior fossa’ and ‘outcome’. The posterior fossa anomalies analyzed were Dandy–Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC) and vermian hypoplasia (VH). The outcomes observed were rate of chromosomal abnormalities, additional anomalies detected at prenatal magnetic resonance imaging (MRI), additional anomalies detected at postnatal imaging and concordance between prenatal and postnatal diagnoses. Only isolated cases of posterior fossa anomalies – defined as having no cerebral or extracerebral additional anomalies detected on ultrasound examination – were included in the analysis. Quality assessment of the included studies was performed using the Newcastle–Ottawa Scale for cohort studies. We used meta-analyses of proportions to combine data and fixed- or random-effects models according to the heterogeneity of the results. Results Twenty-two studies including 531 fetuses with posterior fossa anomalies were included in this systematic review. The prevalence of chromosomal abnormalities in fetuses with isolated DWM was 16.3% (95% CI, 8.7–25.7%). The prevalence of additional central nervous system (CNS) abnormalities that were missed at ultrasound examination and detected only at prenatal MRI was 13.7% (95% CI, 0.2–42.6%), and the prevalence of additional CNS anomalies that were missed at prenatal imaging and detected only after birth was 18.2% (95% CI, 6.2–34.6%). Prenatal diagnosis was not confirmed after birth in 28.2% (95% CI, 8.5–53.9%) of cases. MCM was not significantly associated with additional anomalies detected at prenatal MRI or detected after birth. Prenatal diagnosis was not confirmed postnatally in 7.1% (95% CI, 2.3–14.5%) of cases. The rate of chromosomal anomalies in fetuses with isolated BPC was 5.2% (95% CI, 0.9–12.7%) and there was no associated CNS anomaly detected at prenatal MRI or only after birth. Prenatal diagnosis of BPC was not confirmed after birth in 9.8% (95% CI, 2.9–20.1%) of cases. The rate of chromosomal anomalies in fetuses with isolated VH was 6.5% (95% CI, 0.8–17.1%) and there were no additional anomalies detected at prenatal MRI (0% (95% CI, 0.0–45.9%)). The proportions of cerebral anomalies detected only after birth was 14.2% (95% CI, 2.9–31.9%). Prenatal diagnosis was not confirmed after birth in 32.4% (95% CI, 18.3–48.4%) of cases. Conclusions DWM apparently isolated on ultrasound imaging is a condition with a high risk for chromosomal and associated structural anomalies. Isolated MCM and BPC have a low risk for aneuploidy or associated structural anomalies. The small number of cases with isolated VH prevents robust conclusions regarding their management from being drawn. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Objective: To determine the ultrasonographic characteristics of limited dorsal myeloschisis (LDM) at prenatal ultrasound (US) and to highlight the main features that may help differentiate LDM and myelomeningocele (MMC). Methods: In a tertiary reference center in fetal medicine, we prospectively collected the medical data and ultrasonographic characteristics of all patients referred for in utero prenatal repair of MMC between November 1, 2013 and April 30, 2015. Results: Among the 29 patients assessed, the diagnosis of MMC was revised in 7 cases. In 6 cases, the diagnosis of LDM was established. On US scan, LDM was characterized by a spinal saccular lesion with a thick peripheral lining in continuity with the adjacent skin. Within the saccular lesion, a thick hyperechoic well-delineated structure was present in continuity with the spinal cord. Cerebral structures were normal except for 2 cases showing a cisterna magna slightly decreased in size. In the remaining 22 cases MMC was confirmed, with cerebral anomalies present in 21/22 cases (95.5%). Conclusion: LDM is a form of closed dysraphism accessible to prenatal diagnosis by US that may mimic MMC. Considering the major difference in prognosis between these two entities, physicians should be aware of the existence and ultrasonographic characteristics of LDM.

Summary Background The emergence of Zika virus in the Americas has coincided with increased reports of babies born with microcephaly. On Feb 1, 2016, WHO declared the suspected link between Zika virus and microcephaly to be a Public Health Emergency of International Concern. This association, however, has not been precisely quantified. Methods We retrospectively analysed data from a Zika virus outbreak in French Polynesia, which was the largest documented outbreak before that in the Americas. We used serological and surveillance data to estimate the probability of infection with Zika virus for each week of the epidemic and searched medical records to identify all cases of microcephaly from September, 2013, to July, 2015. Simple models were used to assess periods of risk in pregnancy when Zika virus might increase the risk of microcephaly and estimate the associated risk. Findings The Zika virus outbreak began in October, 2013, and ended in April, 2014, and 66% (95% CI 62–70) of the general population were infected. Of the eight microcephaly cases identified during the 23-month study period, seven (88%) occurred in the 4-month period March 1 to July 10, 2014. The timing of these cases was best explained by a period of risk in the first trimester of pregnancy. In this model, the baseline prevalence of microcephaly was two cases (95% CI 0–8) per 10 000 neonates, and the risk of microcephaly associated with Zika virus infection was 95 cases (34–191) per 10 000 women infected in the first trimester. We could not rule out an increased risk of microcephaly from infection in other trimesters, but models that excluded the first trimester were not supported by the data. Interpretation Our findings provide a quantitative estimate of the risk of microcephaly in fetuses and neonates whose mothers are infected with Zika virus. Funding Labex-IBEID, NIH-MIDAS, AXA Research fund, EU-PREDEMICS.