Contrast media viscosity and its potential effect on the diagnosis of vesicoureteral reflux in children.

Objective: To confirm that contrast-enhanced voiding cystourosonography (ceVUS) diagnoses more vesicoureteral reflux (VUR) than voiding cystourethrography (VCUG) and assess whether this could be explained by contrast agent viscosity differences.

Materials And Methods: Children addressed for a VCUG for suspected or known VUR between April 2021 and June 2023 were prospectively included. CeVUS and VCUG were consecutively performed during the same procedure by two operators; for each pelviureteric unit (PUU), VUR presence was assessed and scored (I-V scale).

Standardised and structured reporting in fetal magnetic resonance imaging: recommendations from the Fetal Task Force of the European Society of Paediatric Radiology.

Over the last decades, magnetic resonance imaging (MRI) has emerged as a valuable adjunct to prenatal ultrasound for evaluating fetal malformations. Several radiological societies advocate for standardised and structured reporting practices to enhance the uniformity of imaging language. Compared to narrative formats, standardised and structured reports offer enhanced content quality, minimise reader variability, have the potential to save reporting time, and streamline the communication between specialists by employing a shared lexicon.

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in gene associated with isolated hyperechogenic fetal kidneys: A case report.

Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant -related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal sonographic sign.

An unusual presentation of de novo RAC3 variation in prenatal diagnosis.

Pathogenic variants in RAC3 cause a neurodevelopmental disorder with brain malformations and craniofacial dysmorphism, called NEDBAF. This gene encodes a small GTPase, which plays a critical role in neurogenesis and neuronal migration. We report a 31 weeks of gestation fetus with triventricular dilatation, and temporal and perisylvian polymicrogyria, without cerebellar, brainstem, or callosal anomalies.

Reversed cortico-medullary differentiation in the fetal and neonatal kidneys: an indicator of poor prognosis?

Background: Bilateral reversed cortico-medullary differentiation is rarely observed on fetal or neonatal renal ultrasound and is therefore a diagnostic challenge.

Objective: Our purpose was to widen the differential diagnoses of fetal and neonatal nephropathies introducing reversed cortico-medullary differentiation as a clue either on obstetric US or during follow-up of hyperechoic kidneys in order to improve the management of such rare clinical situations.

Materials And Methods: We retrospectively reviewed the US images of 11 patients showing bilateral reversed cortico-medullary differentiation on prenatal examination or in which this pattern developed postnatally in the follow-up of fetal hyperechoic kidneys.

Prenatal imaging of the normal and abnormal spinal cord: recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee.

Spinal dysraphisms are amenable to diagnosis in utero. The prognosis and the neonatal management of these conditions differ significantly depending on their types, mainly on the distinction between open and closed defects. A detailed evaluation not only of the fetal spine, but also of the brain, skull, and lower limbs is essential in allowing for the right diagnosis.

Indications for magnetic resonance imaging of the fetal body (extra-central nervous system): recommendations from the European Society of Paediatric Radiology Fetal Task Force.

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.

Exploration of the fetal skeleton by ultra-low-dose computed tomography: guidelines from the Fetal Imaging Task Force of the European Society of Paediatric Radiology.

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.

Fetal uropathies: pre- and postnatal imaging, management and follow-up.

Congenital uropathies are the most common fetal anomalies. They include a wide spectrum of anomalies ranging from mild pelvis dilation to complex urinary tract malformations. Prenatal imaging not only allows for their diagnosis but, in experienced hands, it can differentiate obstructive from refluxing or malformative uropathies.

Fetal magnetic resonance imaging at 3 Tesla - the European experience.

Background: 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.

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene.

Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy.

Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy.

Spontaneous resolution of nonimmune hydrops fetalis in a fetus with gene mutation and gene variants.

In cases of fetal hydrops, searching for an etiology is essential to evaluate the fetal prognosis and propose the most appropriate management.

Indications for magnetic resonance imaging of the fetal central nervous system: recommendations from the European Society of Paediatric Radiology Fetal Task Force.

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.

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.

Congenital hydrocephalus is a potentially devastating, highly heterogeneous condition whose genetic subset remains incompletely known. We here report a consanguineous family where three fetuses presented with brain ventriculomegaly and limb contractures and shared a very rare homozygous variant of KIDINS220, consisting of an in-frame deletion of three amino acids adjacent to the fourth transmembrane domain. Fetal brain imaging and autopsy showed major ventriculomegaly, reduced brain mass, and with no histomorphologic abnormalities.

Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.

We present a case of a middle interhemispheric variant of antenatal discovery associated with a de novo missense variant (NM_007129.5: c.1109G>A p.

Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.

We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the implicated gene in parents. The prenatal diagnosis led to neonatal dietary adaptation and avoided acute complications.

European overview of current practice of fetal imaging by pediatric radiologists: a new task force is launched.

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.

Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia.

Campomelic dysplasia (CD) and its variant acampomelic campomelic dysplasia (ACD) are caused by haploinsufficiency. This gene encodes a transcription factor crucial for embryogenesis and primarily expressed in the olfactory bulbs. The detection of agenesis of olfactory bulbs could help establish a prenatal diagnosis of CD or ACD, although prevalence of this sign remains unknown.

Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series.

Background: 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.

Objective: To present a series of fetuses with an unusual imaging pattern of ADPKD, mimicking autosomal recessive polycystic kidney disease (ARPKD).

Fetal Body Imaging: When is MRI Indicated?

Recent improvements in fetal therapies and perinatal care and the multidisciplinary involvement in fetal medicine have increased the demand for more accurate prenatal diagnosis. Fetal Magnetic Resonance Imaging (MRI) is a complementary imaging technique for the assessment of thoraco-abdominal anomalies for which Ultrasonography (US) is not conclusive. It is indicated in selected situations to precise the prognosis in diaphragmatic hernia, to characterise the nature and extension of a pulmonary malformation, to locate a bowel atresia or to better depict an abdominal cystic lesion or tumoural extension.

Prenatal Evaluation and Postnatal Follow-Up of Ureteral Ectopic Insertion in Multicystic Dysplastic Kidneys.

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.

Postmortem fetal magnetic resonance imaging: where do we stand?

Unlabelled: Postmortem fetal magnetic resonance imaging (PMFMRI) is increasingly used thanks to its good overall concordance with histology paralleling the rising incidence of parental refusal of autopsy. The technique could become a routine clinical examination but it needs to be standardized and conducted by trained radiologists. Such radiologists should be aware of not only the (congenital and acquired) anomalies that can involve the fetus, but also of the "physiological" postmortem changes.

Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.

Background: Our purpose was to describe and compare the cranial and extracranial abnormalities of Pfeiffer syndrome on prenatal imaging with postnatal or postmortem findings, which may help in prenatal diagnosis of Pfeiffer syndrome (PS).

Methods: Cases of fetuses with a confirmed diagnosis of PS over a 4-year period (2012-2016) were retrospectively reviewed. Prenatal imaging findings, postnatal, or postmortem investigations and genetic test results were analyzed.