Combined prenatal US and post-mortem fetal MRI: can they replace conventional autopsy for fetal body abnormalities?

OBJECTIVES: The acceptance of conventional autopsy (CA), the gold standard method for investigating fetal death, often remains problematic. Post-mortem magnetic resonance imaging (PMMRI) is increasingly advocated, particularly for neurologic malformations. However, PMMRI performances to diagnose non-neurologic malformations remain unclear. We aim to clarify whether a full body CA remains needed after prenatal ultrasound (US) and PMMRI in assessing non-neurologic fetal malformations. METHODS: In this retrospective IRB-approved study, during a 6-year period, all fetuses who underwent PMMRI, prenatal US, and full body CA were included. Body abnormalities were identified in US, PMMRI, and CA reports. US and PMMRI images were all reviewed. All abnormalities were graded as major (2 points) or minor (1 point). Each technique (US, PMMRI, CA) was given a score by adding all grading points. In each fetus, results were compared for both separate and combined US and PMMRI to CA. Sensitivity and specificity were calculated for detecting major abnormalities. RESULTS: Fifty fetuses were included. The score of CA, US, and PMMRI was respectively 53, 37, and 46. Compared with US-PMMRI, CA added information in 2 cases (4%) with major abnormalities and 7 cases (14%) with minor abnormalities. PMMRI and US were concordant in 36/50 (72%) fetuses. Separate US/PMMRI sensitivities and specificities for detecting major body malformations respectively were 80%/80% and 100%/94%. Combined US-PMMRI had a sensitivity of 90% and a specificity of 94%. Two cardiac malformations (2/6) were only described by CA. CONCLUSIONS: After prenatal US and PMMRI, few additional fetal body malformations are discovered with CA. Nevertheless, fetal heart autopsy remains mandatory. CLINICAL RELEVANCE STATEMENT: A cardiac conventional autopsy complemented by prenatal ultrasound and post-mortem MRI allows to detect all major fetal body abnormalities. With this efficient and much less invasive approach, a higher acceptance rate of fetal autopsy can be expected. KEY POINTS: • Excepting cardiac malformations, most major fetal body malformations can reliably be identified by prenatal US combined with post-mortem MRI. • In the post-mortem diagnosis of fetal body malformations, a conventional autopsy limited to the fetal heart might replace a full body autopsy after a well-conducted prenatal US and post-mortem MRI.

Anomalies of the fetal gallbladder: pre-and postnatal correlations.

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.

Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.

Kidney dysplasia is one of the most frequent causes of chronic kidney failure in children. While dysplasia is a histological diagnosis, the term 'kidney dysplasia' is frequently used in daily clinical life without histopathological confirmation. Clinical parameters of kidney dysplasia have not been clearly defined, leading to imprecise communication amongst healthcare professionals and patients. This lack of consensus hampers precise disease understanding and the development of specific therapies. Based on a structured literature search, we here suggest a common basis for clinical, imaging, genetic, pathological and basic science aspects of non-obstructive kidney dysplasia associated with functional kidney impairment. We propose to accept hallmark sonographic findings as surrogate parameters defining a clinical diagnosis of dysplastic kidneys. We suggest differentiated clinical follow-up plans for children with kidney dysplasia and summarize established monogenic causes for non-obstructive kidney dysplasia. Finally, we point out and discuss research gaps in the field.

European Society of Paediatric Radiology abdominal imaging task force: recommendations for contrast-enhanced ultrasound and diffusion-weighted imaging in focal renal lesions in children.

Contrast-enhanced ultrasound (CEUS) and diffusion-weighted imaging (DWI) are safe, repeatable imaging techniques. The aim of this paper is to discuss the advantages, technical factors and possible clinical applications of these imaging tools in focal renal lesions in children.

Correction to: Plea for a standardized imaging approach to disorders of sex development in neonates: Consensus proposal from European Society of Paediatric Radiology task force.

The above article was published online with an incorrect author name.

Plea for a standardized imaging approach to disorders of sex development in neonates: consensus proposal from European Society of Paediatric Radiology task force.

This consensus article elaborated by the European Society for Paediatric Radiology task force on gastrointestinal and genitourinary imaging is intended to standardize the imaging approach in newborns with disorders of sex development. These newborns represent a difficult and stressful situation necessitating a multidisciplinary team approach. Imaging plays an important role in the work-up but needs to be optimized and customized to the patient. Ultrasound plays the central role in assessing the genital anatomy. The examination must be conducted in a detailed and systematic way. It must include transabdominal and transperineal approaches with adapted high-resolution transducers. The pelvic cavity, the genital folds, the inguinal areas and the adrenals must be evaluated as well as the rest of the abdominal cavity. A reporting template is proposed. The indications of magnetic resonance imaging and cysto- and genitography are discussed as well as they may provide additional information. Imaging findings must be reported cautiously using neutral wording as much as possible.

Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews.

Importance: Prenatal and neonatal cystic kidney diseases are a group of rare disorders manifesting as single, multiple unilateral, or bilateral cysts or with increased echogenicity of the renal cortex without macroscopic cysts. They may be accompanied by grossly enlarged kidneys, renal oligohydramnios, pulmonary hypoplasia, extrarenal abnormalities, and neonatal kidney failure. The prognosis is extremely variable from trivial to very severe or even uniformly fatal, which poses significant challenges to prenatal counseling and management. Objective: To provide a clinical practice recommendation for fetal medicine specialists, obstetricians, neonatologists, pediatric nephrologists, pediatricians, and human geneticists by aggregating current evidence and consensus expert opinion on current management of cystic nephropathies before and after birth. Methods: After 8 systematic literature reviews on clinically relevant questions were prepared (including 90 studies up to mid-2016), recommendations were formulated and formally graded at a consensus meeting that included experts from all relevant specialties. After further discussion, the final version was voted on by all members using the Delphi method. The recommendations were reviewed and endorsed by the working groups on inherited renal disorders of the European Renal Association-European Dialysis and Transplant Association (ERA-EDTA) and European Society for Paediatric Nephrology (ESPN); the German Society of Obstetrics and Gynecology (DGGG), German Society of Perinatal Medicine (DGPM), and German Society of Ultrasound in Medicine (DEGUM); and the alliance of patient organizations, PKD International. Recommendations: The group makes a number of recommendations on prenatal and postnatal imaging by ultrasound and magnetic resonance imaging, genetic testing, prenatal counseling, in utero therapeutic interventions, and postnatal management of prenatal and neonatal cystic kidney diseases, including provision of renal replacement therapy in neonates. In addition to detailed knowledge about possible etiologies and their prognosis, physicians need to be aware of recent improvements and remaining challenges of childhood chronic kidney disease, neonatal renal replacement therapy, and intensive pulmonary care to manage these cases and to empower parents for informed decision making.

Standardization of pediatric uroradiological terms: a multidisciplinary European glossary.

To promote the standardization of nephro-uroradiological terms used in children, the European Society of Paediatric Radiology uroradiology taskforce wrote a detailed glossary. This work has been subsequently submitted to European experts in pediatric urology and nephrology for discussion and acceptance to improve the quality of radiological reports and communication between different clinicians involved in pediatric urology and nephrology.

Standardization of pediatric uroradiological terms: A multidisciplinary European glossary.

To promote the standardization of nephro-uroradiological terms used in children, the European Society of Pediatric Radiology uroradiology taskforce wrote a detailed glossary. This work has been subsequently submitted to European experts in pediatric urology and nephrology for discussion and acceptance to improve the quality of radiological reports and communication among different clinicians involved in pediatric urology and nephrology.

Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.

INTRODUCTION: Tuberous sclerosis complex (TSC) involves frequently the kidneys. Lesions encompass mainly angiomyolipoma and cysts. The disease can be associated with autosomal dominant polycystic kidney disease leading to the contiguous gene syndrome (CGS) The objectives of the present study were to review the US appearances of the renal involvement in children affected by classical TSC or by the CGS and to verify whether it is possible to differentiate between both entities. The evolution of the lesions through time was also studied. MATERIALS AND METHODS: 55 cases of patients <16 years with STB were reviewed by two pediatric radiologists. Clinical data reviewed included age at diagnosis, genetic assessment and complications; US data reviewed included renal size, type of lesions (angiomyolipoma-AML, or cysts), number and location as well as their evolution with time. Complications were also analyzed. RESULTS: 30 patients (56 %) had at least one kidney lesion (27 classical TSC and 3 CGS). On the basis of the US findings, these patients were separated into four groups. Group 1 (9 patients) displayed microscopic (diffuse) AML; group 2 (3 patients) displayed macroscopic AML; group 3 (9 patients) displayed only renal cysts and group 4 (9 patients) displayed the association of AML and cysts. Increased renal size, the large number and size of cystic lesions were suggestive of the CGS. The isolated AML were suggestive of classical STB. The average growth of angiomyolipoma was low before age of 12 and exceeded 4 mm/year thereafter. CONCLUSION: In children with TSC, renal involvement is common. Some US criteria can help to suggest the diagnosis of CGS. The growth of angiomyolipoma is slow before 12 years and accelerates thereafter. Complications are rare.

ESPR Uroradiology Taskforce--imaging recommendations in paediatric uroradiology, part VIII: retrograde urethrography, imaging disorder of sexual development and imaging childhood testicular torsion.

Three new consensus-based recommendations of the European Society of Paediatric Radiology Uroradiology Taskforce and the European Society of Urogenital Radiology Paediatric Working Group on paediatric uroradiology are presented. One deals with indications and technique for retrograde urethrography, one with imaging in the work-up for disorders of sexual development and one with imaging workflow in suspected testicular torsion. The latter is subdivided to suggest a distinct algorithm to deal with testicular torsion in neonates. These proposals aim to outline effective imaging algorithms to optimise diagnostic accuracy and to harmonize diagnostic imaging among institutions and practitioners.

Renal involvement in children with HNF1ß mutation: early sonographic appearances and long-term follow-up.

OBJECTIVES: The aim was to report ultrasound (US) patterns of hepatocyte nuclear factor (HNF1ß) mutation throughout childhood and determine whether ultrasound could be predictive of renal failure. METHODS: The sonographic examinations in 34 children with HNF1ß mutation were reviewed. Their sonographic characteristics were compared with renal function. RESULTS: At first postnatal examination renal length was normal in 44 % of the patients, decreased in 24 %, increased in 12 % and asymmetrical in 20 %. Renal cortex was hyperechoic in 97 %. Corticomedullary differentiation was abnormal in 59 %. Cysts were present in 77 % of patients. Cysts were mostly subcapsular (64 %). Twenty-eight patients had follow-up examinations. A modification of the sonographic appearance was observed in 91 % of patients. Eight patients (23 %) had renal failure; no specific US pattern could be demonstrated. CONCLUSIONS: At birth, HNF1ß mutation was typically associated on US with the combination of hyperechoic, normal-sized kidneys with abnormal corticomedullary differentiation (CMD) and multiple cortical cysts. In older children, the appearances can be variable: kidneys may have decreased (32 %) or normal size (33 %); they are usually hyperechoic (50 %) with abnormal CMD (78 %) and (sub)cortical cysts (71 %). No pattern appears to be associated with renal failure. KEY POINTS: • HNF1ß mutations determine significant anomalies of sonographic appearances of kidneys in children. • Kidneys appear mainly hyperechoic, with or without CMD and with subcapsular cysts. • The US pattern may evolve throughout childhood in the same patient. • No correlation was found between any sonographic pattern and renal failure.

Fetal kidneys: additional sonographic criteria of normal development.

OBJECTIVE: The aim of this study was to establish objective criteria for the evaluation of cortical echogenicity (CE), cortical thickness (CT), and medullary thickness (MT), as well as the corticomedullary ratio (CMR), throughout gestation. METHOD: In this prospective single-center study, CE, MT, CT, and CMR were evaluated in a group of singleton pregnancies examined by ultrasound during the second and third trimesters. RESULTS: The CE evolved from a hyperechoic pattern compared with the liver or spleen during early second trimester to a hypoechogenic pattern in the third trimester, with no fetus displaying cortical hyperechogenicity after 32 weeks. CT increased from 1.8 to 2.5 mm (p < 0.05) from 21 to 25 to 34 to 37 weeks; MT from 2.7 to 5.1 mm (p < 0.0001), and the CMR decreased from 0.7 to 0.5 (p < 0.001). CONCLUSION: The CE, CT, and MT evolve with gestation. Cortical hyperechogenicity compared with the liver or spleen after 32 weeks or a CMR above 0.7 in the third trimester should raise the suspicion of a fetal nephropathy.

Imaging and classification of congenital cystic renal diseases.

OBJECTIVE: The purpose of this clinical perspective is to describe a decision-tree approach to the finding of hyperechoic kidneys as signs of congenital renal cystic disease in fetuses and children. This approach takes into account the latest classification of inherited renal cystic diseases. The basis of the approach is a detailed sonographic analysis in addition to assessment of clinical data and the familial history. CONCLUSION: With the decision-tree approach, typical sonographic patterns can be described and used for accurate diagnosis of isolated renal cystic diseases and polymalformative syndromes. In some cases, however, the diagnosis is not achieved, and complementary examinations are needed.

ESPR uroradiology task force and ESUR paediatric working group: imaging and procedural recommendations in paediatric uroradiology, part III. Minutes of the ESPR uroradiology task force minisymposium on intravenous urography, uro-CT and MR-urography in childhood.

The ESPR working groups have addressed intravenous urography (IVU), uro-CT and MR-urography (MRU) in childhood as the last in the series of recommendations for paediatric uroradiology. The aim of this process was again to standardise paediatric uroradiologic imaging and to reduce invasiveness and radiation dose. As for the existing recommendations, the new proposals are consensus-based because evidence is lacking, use and indications have changed, or approaches on how to perform the examination in children differ in the literature (MRU). As in the previous recommendations, a thorough review of the literature and existing guidelines and recommendations has been performed. The proposals were discussed within the group and with non-member experts and colleagues from other partner disciplines. These recommendations aim to serve as a quality measure in order to standardise the procedures and thus grant comparable good quality results throughout different institutions.

Renal cystic diseases in children: new concepts.

This review highlights the changes that have occurred in the general approach to cystic renal diseases in children. For instance, genetic mutations at the level of the primary cilia are considered as the origin of many renal cystic diseases. Furthermore, these diseases are now included in the spectrum of the hepato-renal fibrocystic diseases. Imaging plays an important role as it helps to detect and characterize many of the cystic diseases based on a detailed sonographic analysis. The diagnosis can be achieved during fetal life or after birth. Hyperechoic kidneys and/or renal cysts are the main sonographic signs leading to such diagnosis. US is able to differentiate between recessive and dominant polycystic kidney diseases, hepatocyte nuclear factor 1 Beta mutation, glomerulocystic kidneys and nephronophtisis. MR imaging can, in selected cases, provide additional information including the progressive associated hepatic changes.

Tumours of the fetal body: a review.

Tumours of the fetal body are rare, but lesions have been reported in all spaces, especially in the mediastinum, the pericardial space, the adrenals, the kidney, and the liver. Lymphangioma and teratoma are the commonest histological types encountered, followed by cardiac rhabdomyoma. Adrenal neuroblastoma is the commonest malignant tumour. Imaging plays an essential role in the detection and work-up of these tumours. In addition to assisting clinicians it also helps in counselling parents. Most tumours are detected by antenatal US, but fetal MRI is increasingly used as it brings significant additional information in terms of tumour extent, composition and complications.

Imaging recommendations in paediatric uroradiology: minutes of the ESPR workgroup session on urinary tract infection, fetal hydronephrosis, urinary tract ultrasonography and voiding cystourethrography, Barcelona, Spain, June 2007.

We present here a few basic proposals for algorithms and procedures for imaging the paediatric genitourinary tract based on initial discussion at a paediatric uroradiology symposium and proposals of the ESUR Paediatric Uroradiologic Guidelines Subcommittee. These recommendations were developed in the light of new knowledge that might influence existing guidelines. Regional, individual and local flexibility and variability should be preserved in order to make these recommendations applicable throughout Europe. They should help standardize dedicated imaging not only in terms of a quality measure to ensure state-of-the-art patient care, but also in forming a common basis for multi-institutional research. There is an urgent need for these guidelines in order to advance our understanding of the subject and to gain evidence and improve imaging efficacy. Our session worked towards establishing an agreement on imaging indications in common paediatric urological conditions, respecting the ALARA principle, and patient safety and care, and taking into account state of the art knowledge and efficacy aspects. We started the task with a reassessment of (1) imaging in urinary tract infection in infants and children, (2) postnatal imaging in mild-to-moderate neonatal hydronephrosis, (3) how to perform voiding cystourethrography, and (4) procedural recommendations for paediatric urosonography. This list is incomplete, and future recommendations will be developed, discussed and presented at forthcoming meetings.