Postnatal Imaging Research Articles

Congenital glioblastoma – prenatal diagnosis becoming a diagnostic challenge after birth: a case report

Abstract Objectives The incidence of congenital brain tumors is estimated at 1.1–3.6 per 100.000 live births, accounting for 0.5–2 % of all cancers in the pediatric population. Congenital gliomas account for 3.1–8.9 % of all congenital brain tumors and are cancers with a poor prognosis. The rate of stillbirth and death on the first day of life reaches 29 %; 38 % die within the first week, and 56 % die within the first two months. The average length of survival is two years. Case presentation In the 29th week of pregnancy, a female fetus was diagnosed with intracranial hemorrhage complicated by hydrocephalus. Postnatal brain MRI imaging showed a solid proliferative lesion of the left hemisphere with dilatation of the ventricular system. Brown cerebrospinal fluid was collected during the puncture of the left lateral ventricle to reduce hydrocephalus. No tumor cells were detected by cytology. Due to increasing hydrocephalus, the patient was qualified for Rickham reservoir implantation. On day 27th, a craniotomy was performed to determine the etiology of recurrent prenatal intraventricular bleeding. During surgery, the bleeding mass raised the suspicion of neoplasm—histopathological examination of the retrieved tissue diagnosed WHO stage IV malignant glioma. The patient died at 8 months of age. Conclusions Prenatal diagnosis of an abnormal structure in the fetal brain remains a diagnostic challenge in neonates. Glioblastoma is a rare neoplasm with a poor prognosis.

Xiphopagic conjoined twins: A case report with pre and postnatal imaging

Siamese or conjoined twins represent a rare but specific malformation occurring in monozygotic and mono-amniotic twin pregnancies. We report a case of xiphopagic conjoined twins and compare the contribution and correlation between ante- and post-mortem imaging for the detailed evaluation of the malformation. Our case highlights the importance of postnatal imaging to better understand this complex type of fetal malformation.

Institutional Evaluation of Fetal Neurology Consults and Postnatal Outcomes: A 10-Year Retrospective Cohort Review.

An increasing number of centers are offering fetal neurology consultation services; however, there is limited information available in overall institutional experiences. Data are lacking on the fetal characteristics, pregnancy course, and the influence of fetal consultation on perinatal outcomes. The aim of this study is to provide insight on the institutional fetal neurology consult process and areas of strengths and weaknesses. We performed a retrospective electronic chart review of fetal consults from April 2, 2009, to August 8, 2019, at Nationwide Children's Hospital. The objectives were to summarize clinical characteristics, agreement of prenatal and postnatal diagnoses based on best available imaging, and postnatal outcomes. Of the 174 maternal-fetal neurology consults placed, 130 qualified for inclusion based on data available for review. Of the 131 anticipated fetuses, 5 experienced fetal demise, 7 underwent elective termination, and 10 died in the postnatal period. The majority were admitted to the neonatal intensive care unit; 34 (31%) required supportive intervention for feeding, breathing, or hydrocephalus, and 10 (8%) experienced seizures during their neonatal intensive care unit (NICU) stay. Imaging results from 113 babies who had prenatal and postnatal imaging of the brain were analyzed based on the primary diagnosis. The most common malformations were as follows (prenatal % vs postnatal %): midline anomalies (37% vs 29%), posterior fossa abnormalities (26% vs 18%), and ventriculomegaly (14% vs 8%). Additional disorders of neuronal migration were not seen on fetal imaging but were present in 9% of the postnatal studies. Analysis of agreement between prenatal and postnatal diagnostic imaging for the 95 babies who had MRIs at both time points found moderate concordance (Cohen kappa: 0.62, 95% CI 0.5-0.73; percent agreement: 69%, 95% CI 60%-78%). Consult recommendations for neonatal blood tests affected postnatal care in 64 of 73 cases in which the infant survived and data were available. Establishing a multidisciplinary fetal clinic can provide timely counseling and create rapport with families to have continuity of care for birth planning and postnatal management. Prognosis based on radiographic prenatal diagnosis requires caution as some neonatal outcomes may vary considerably.

Fetal Ultrasound and Magnetic Resonance Imaging Abnormalities in Congenital Cytomegalovirus Infection Associated with and without Fetal Growth Restriction.

Congenital cytomegalovirus infection (cCMV) can cause fetal growth restriction (FGR) and severe sequelae in affected infants. Clinicians generally suspect cCMV based on multiple ultrasound (US) findings associated with cCMV. However, no studies have assessed the diagnostic accuracy of fetal US for cCMV-associated abnormalities in FGR. Eight FGR and 10 non-FGR fetuses prenatally diagnosed with cCMV were examined by undergoing periodic detailed US examinations, as well as postnatal physical and imaging examinations. The diagnostic accuracy of prenatal US for cCMV-associated abnormalities was compared between FGR and non-FGR fetuses with cCMV. The diagnostic sensitivity rates of fetal US for cCMV-related abnormalities in FGR vs. non-FGR fetuses were as follows: ventriculomegaly, 66.7% vs. 88.9%; intracranial calcification, 20.0% vs. 20.0%; cysts and pseudocysts in the brain, 0% vs. 0%; ascites, 100.0% vs. 100.0%; hepatomegaly, 40.0% vs. 100.0%; splenomegaly, 0% vs. 0%. The diagnostic sensitivity of fetal US for hepatomegaly and ventriculomegaly in FGR fetuses with cCMV was lower than that in non-FGR fetuses with cCMV. The prevalence of severe long-term sequelae (e.g., bilateral hearing impairment, epilepsy, cerebral palsy, and severe developmental delay) in the CMV-infected fetuses with FGR was higher, albeit non-significantly. Clinicians should keep in mind the possibility of overlooking the symptoms of cCMV in assessing fetuses with FGR.

A Prospective Management Strategy for Heterotaxy Syndrome with Intestinal Rotation Abnormalities: Imaging Does Not Predict Need for Surgery

PurposeHeterotaxy syndrome (HS) affects right-left anatomical development in 3% of children with congenital heart disease. Commonly, these patients have intestinal rotation abnormalities (IRA) that differ from typical malrotation. In this prospective study, we examine the development of a management pathway, imaging findings, and clinical course of patients with HS and IRA. MethodsAfter literature review, a multispecialty focus group designed a pathway for HS. Participants from a single institution were prospectively enrolled from 2016 to 2019. They underwent an abdominal ultrasound and UGI, however timing was variable based on symptoms. Symptomatic IRA was defined as feeding intolerance, bilious or non-bilious vomiting, bloating, severe reflux, and intermittent pain or abdominal distention. Screening for symptoms occurred every three months for the first two years and then annually. Results18 participants were followed for a median of 5.0 years. Three clinical categories were identified: 1) asymptomatic, not requiring intestinal surgery, 72.2%, 2) symptomatic with feeding intolerance or failure to thrive requiring gastrostomy placement and diagnostic laparoscopy with Ladd procedure, 16.7%, and 3) symptomatic requiring urgent exploration for suspicion of volvulus, 11.1%. Need for surgery did not necessarily correlate with US and/or UGI findings. ConclusionsIn children with HS and IRA, postnatal imaging did not inform the need for intestinal surgery. Although rare, volvulus or other forms of proximal obstruction can be anticipated, and symptomatic patients should be offered surgical intervention. A multidisciplinary care pathway for patients with HS and IRA can coordinate care and help counsel families on the likelihood of needing intestinal surgery for IRA. Level of EvidenceLevel II. Type of StudyProspective Cohort Study.

Peritonite meconial relacionada à doença hepática materna: relato de caso

Meconium peritonitis has been associated with cystic fibrosis, congenital infections, and bowel disease. A growing number of reports have also associated it with maternal liver disease. This report describes the case of a preterm newborn with meconium peritonitis born from a woman with liver disease and presents a review of the literature on the subject. A male preterm newborn weighing 2595g was admitted to the Neonatal Intermediate Care Unit due to an obstetric ultrasound scan performed at 31 weeks and 3 days of gestation showing calcifications of various sizes throughout his abdomen. His mother had autoimmune hepatitis and sclerosing cholangitis. Postnatal abdominal x-ray images showed calcifications in the liver and right paracolic gutter and abdomen ultrasound scans showed large peritoneal calcifications in the hepatic and splenic capsules and in the pouch of Morrison, in addition to calcifications in the right scrotum.

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.

Tubulinopathies refer to conditions caused by genetic variants in isotypes of tubulin resulting in defective neuronal migration. Historically, diagnosis was primarily via postnatal imaging. Our objective was to establish the prenatal phenotype/genotype correlations of tubulinopathies identified by fetal imaging. A large, multicenter retrospective case series was performed across nine institutions in the Fetal Sequencing Consortium. Demographics, fetal imaging reports, genetic screening and diagnostic testing results, delivery reports, and neonatal imaging reports were extracted for pregnancies with a confirmed molecular diagnosis of a tubulinopathy. Nineteen pregnancies with a fetal tubulinopathy were identified. The most common prenatal imaging findings were cerebral ventriculomegaly (15/19), cerebellar hypoplasia (13/19), absence of the cavum septum pellucidum (6/19), abnormalities of the corpus callosum (6/19), and microcephaly (3/19). Fetal MRI identified additional central nervous system features that were not appreciated on neurosonogram in eight cases. Single gene variants were reported in TUBA1A (13), TUBB (1), TUBB2A (1), TUBB2B (2), and TUBB3 (2). The presence of ventriculomegaly with cerebellar abnormalities in conjunction with additional prenatal neurosonographic findings warrants additional evaluation for a tubulinopathy. Conclusive diagnosis can be achieved by molecular sequencing, which may assist in coordination, prognostication, and reproductive planning.

Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.

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+1weeks, respectively. In all patients, the cyst was in the vermian horizontal fissure. The mean longest dimension was about 10mm. 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.

Long-term outcome of consecutive case series of congenital isolated agenesis of corpus callosum.

To describe the long-term outcome of children with prenatally diagnosed isolated complete agenesis of the corpus callosum (cACC). In this single-center case series, we reviewed retrospectively the charts of fetuses referred to our fetal therapy unit from January 2004 to July 2020 for a suspected anomaly of the corpus callosum (CC). Cases with prenatally diagnosed isolated cACC were included. Fetal karyotype and comparative genomic hybridization microarray of amniotic fluid, in addition to fetal magnetic resonance imaging, were offered to all pregnant women with a diagnosis of fetal CC malformation. The surviving children were enrolled in the neurodevelopmental follow-up program at our institution, which included postnatal magnetic resonance imaging, serial neurological examinations and neurodevelopmental evaluations with standardized tests according to age. Families living in remote areas or far from our institution were offered a structured ad-hoc phone interview. A total of 128 pregnancies with fetal CC malformation were identified (mean gestational age at diagnosis, 24.5 (range, 21-34) weeks), of which 53 cases were diagnosed prenatally with apparently isolated cACC. Of these, 12 cases underwent termination of pregnancy, one resulted in intrauterine demise at 24 weeks of gestation and 13 cases were lost to follow-up. Of the remaining 27 children, one was excluded due to an associated chromosomal anomaly (8p21.3q11.21 mosaic duplication) diagnosed after birth, which could have been detected prenatally if the parents had consented to amniocentesis. In the 26 children included in the analysis, neurodevelopmental follow-up was available for a median of 3 (range, 1-16) years. Three (11.5%) infants had severe neurodevelopmental impairment, two of which were diagnosed postnatally with a genetic syndrome (Mowat-Wilson syndrome and Vici syndrome) that would not have been diagnosed prenatally. Seven (26.9%) children had mild neurodevelopmental impairment and 16 (61.5%) had normal neurodevelopmental outcome. The Full-Scale Intelligence Quotients of the three children with severe neurodevelopmental impairment were 50, 64 and 63, respectively, while that of the remaining children was in the normal range (median, 101; range, 89-119). In 88% of the children with cACC included in this study, neurodevelopment was not severely impaired. However, long-term follow-up is recommended in all cases of congenital isolated cACC to recognize subtle neurodevelopmental disorders as early as possible. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Diagnosis of isolated right aortic arch: Accuracy of prenatal diagnosis, associated genomic disorders and interest of systematic postnatal imaging. The ARCADE multicentre retrospective observational study

Prenatal diagnosis of isolated right aortic arch (RAA) have increased during the past decades. However, diagnosis accuracy, genetic testing, and post-natal follow-up are still not consensual. We aimed to analyse French pediatric cardiologists practice regarding prenatal diagnosis of isolated RAA. We collected all livebirth with isolated RAA prenatally diagnosed in 14 French congenital heart disease centres from 2015 to 2020. We compare, using kappa coefficient of concordance, the anatomical position of aortic arch, ductus arteriosus and aberrant left subclavian artery described by prenatal echo, postnatal echo, and CT scan when available. We also assessed available genetic results and functional postnatal status. We included 309 neonates with prenatal diagnosis of isolated RAA. Regarding patients with an isolated RAA, left ductus arteriosus have been described in 76% of cases. Diagnosis of aberrant left subclavian artery was missing in 73% of cases. Four patients with prenatal isolated RAA had a postnatal diagnosis of double aortic arch (DAA). Correlation between pre- and post-natal echo was excellent regarding aortic arch position (kappa = 0.97). 108 neonates (35%) underwent postnatal CT scan due to onset of respiratory symptoms (53%) or systematic centre protocol (47%). CT-scan revealed five more unknown DAA. Correlation between prenatal echo and CT-scan was good (kappa = 0.79). Furthermore, systematic CT-scan showed 13 major tracheal compression resulting in six arterial ring surgeries during the study period. Lastly, 165 patients (53%) underwent a genetic testing. Nine patients (5.4%) presented a 22q11 deletion. Performance of prenatal diagnosis of isolated RAA is excellent, with a good correlation between pre- and post-natal echocardiography or gold standard-CT scan. Prenatal diagnosis of aberrant left subclavian artery and DAA is still challenging. CT scan improve anatomical description and functional impact of aortic arch anomalies and may be proposed to complete postnatal follow-up. Lastly, amniocentesis should be considered to detect genetic disorders.

Postnatal Imaging for Prediction of Outcome in Patients with Left-sided Congenital Diaphragmatic Hernia

To evaluate associations between postnatal imaging features and outcome of left-sided congenital diaphragmatic hernia, as defined by overall survival and a requirement for extracorporeal membrane oxygenation (ECMO). Newborns diagnosed prenatally with left-sided congenital diaphragmatic hernia between January 2013 and September 2021 were studied retrospectively. The esophageal deviation index was newly defined as the largest diameter from the midline to deviated gastric tube divided by the largest transverse diameter of the thoracic cavity on the radiograph. Regression analyses were performed to identify postnatal imaging features associated with overall survival and a requirement for ECMO. The predictive power (ie, area under the curve [AUC] of a time-dependent receiver operating characteristic curve) of prenatal, postnatal, and intraoperative findings for predicting survival were calculated. Ninety-seven patients (54 males; mean gestational age, 38.3±1.9weeks; mean birth weight, 2956.5±540.0g) were analyzed. The esophageal deviation index (adjusted hazard ratio [HR], moderate [≥0.19 to <0.24], 6.427 [P=.029]; severe [≥0.24], 33.007 [P<.001]) and right pneumothorax (adjusted HR, 8.763; P=.002) were associated with overall survival and with a requirement for ECMO. Liver herniation on postnatal ultrasound also was associated with overall survival (P<.001) and need for ECMO (P=.001). In addition, the AUC for prediction of 1-year survival from postnatal ultrasound was comparable with that of prenatally or intraoperatively detected liver herniation (0.93; 95% CI, 0.88-0.97). The esophageal deviation index, right pneumothorax, and liver herniation observed by postnatal imaging have prognostic value in patients with left-sided congenital diaphragmatic hernia.

Isolated Absent Septum Pellucidum: A Retrospective Study of Fetal Diagnosis and Postnatal Outcomes

BackgroundAbsent septum pellucidum (ASP) is a brain abnormality often associated with neuroanatomic abnormalities including septo-optic dysplasia (SOD). We aimed to determine how frequently prenatally diagnosed isolated ASP is confirmed by postnatal imaging and to examine clinical outcomes for ASP. MethodsThis was a retrospective study of maternal-fetal dyads referred to Children's National Hospital from January 1, 2012, to June 30, 2019. We included cases with fetal diagnosis of isolated or complex ASP. Diagnosis was based on ASP and the presence or absence of additional neuroanatomic findings. Data included obstetric and birth history, genetic testing, imaging, and neurodevelopmental outcomes. ResultsASP was diagnosed in 35 fetuses. Of 17 fetuses with isolated ASP, 10 had postnatal evaluation. In five (50%) isolated ASP cases, postnatal imaging revealed additional brain abnormalities. The five children with postnatally confirmed isolated ASP had lower rates of hydrocephalus (0% vs 54%) and abnormal feeding (0% vs 20%), hearing (0% vs 14%), and vision (0% vs 14%) than those with complex ASP (n = 17). Children with isolated ASP had lower rates of developmental delay (33% vs 50%) and seizures (11% vs 30%) than children with complex ASP. One child with prenatal isolated ASP was diagnosed with SOD (10%). ConclusionsFew children with prenatally diagnosed isolated ASP had SOD diagnosed postnatally. Overall, children with isolated ASP demonstrate better outcomes than children with complex ASP. Fetal magnetic resonance imaging is a useful tool to evaluate the septum pellucidum and may reveal additional abnormalities that can impact prognosis and affect prenatal counseling.

Evaluating the efficacy of virtual prenatal counseling for genitourinary anomalies

Introduction and ObjectivesThe standardization of fetal sonography has enabled early detection of genitourinary anomalies and referral for prenatal counseling with pediatric urologists. Prenatal urologic consultation can determine the need for antenatal and postnatal intervention, assuage parental anxiety, and establish continuity of care. The COVID-19 pandemic led to a significant increase in virtual visits (VVs). Our aim was to characterize a cohort of patients who underwent prenatal VVs with pediatric urologists and to assess adherence to prenatal recommendations for neonatal urologic care.Materials and MethodsData were collected through retrospective chart review of all patients receiving prenatal virtual consultation for genitourinary anomalies at our institution from July 1, 2020 to September 30, 2021. Data collected include maternal and gestational age at the time of prenatal imaging and VV, diagnosis of the fetus and neonate, and adherence to pediatric urological recommendations.ResultsDuring the study period, there were 70 prenatal VVs for 69 singleton and 1 twin gestation. 84 prenatal genitourinary diagnoses were made in these 71 cases. Of the 56/71 children known to have been born by the time of analysis, there are 63 postnatal genitourinary diagnoses. Postnatal diagnoses were consistent (38/56, 68%) or partially consistent (16/56, 29%) with prenatal diagnoses in 54/56 neonates (96%). There was 100% adherence to the postnatal imaging and antibiotic recommendations. One patient failed to attend the postnatal visit and one patient is due for repeat postnatal imaging to determine the necessity of follow-up.ConclusionsPrenatal VVs promoted effective counseling of genitourinary anomalies and were associated with impressive postnatal adherence to prenatal recommendations. This is, to our knowledge, the first study to assess the impact of prenatal virtual pediatric urological consultation on postnatal adherence to prenatal recommendations. Future study will benefit from survey of the patient VV experience and evaluation of the relative merits of virtual versus in-person prenatal visits in a prospective, randomized fashion.

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.

Deep learning imaging features derived from kidney ultrasounds predict chronic kidney disease progression in children with posterior urethral valves.

We sought to use deep learning to extract anatomic features from postnatal kidney ultrasounds and evaluate their performance in predicting the risk and timing of chronic kidney disease (CKD) progression for boys with posterior urethral valves (PUV). We hypothesized that these features would predict CKD progression better than clinical characteristics such as nadir creatinine alone. We performed a retrospective cohort study of boys with PUV treated at two pediatric health systems from 1990 to 2021. Features of kidneys were extracted from initial postnatal kidney ultrasound images using a deep learning model. Three time-to-event prediction models were built using random survival forests. The Imaging Model included deep learning imaging features, the Clinical Model included clinical data, and the Ensemble Model combined imaging features and clinical data. Separate models were built to include time-dependent clinical data that were available at 6months, 1year, 3years, and 5years. Two-hundred and twenty-five patients were included in the analysis. All models performed well with C-indices of 0.7 or greater. The Clinical Model outperformed the Imaging Model at all time points with nadir creatinine driving the performance of the Clinical Model. Combining the 6-month Imaging Model (C-index 0.7; 95% confidence interval [CI] 0.6, 0.79) with the 6-month Clinical Model (C-index 0.79; 95% CI 0.71, 0.86) resulted in a 6-month Ensemble Model that performed better (C-index 0.82; 95% CI 0.77, 0.88) than either model alone. Deep learning imaging features extracted from initial postnatal kidney ultrasounds may improve early prediction of CKD progression among children with PUV. A higher resolution version of the Graphical abstract is available as Supplementary information.

Torcular Dural Sinus Malformation: Fetal and Postnatal Imaging Findings and Their Associations With Clinical Outcomes

BackgroundTorcular dural sinus malformations (tDSMs) are rare vascular malformations that present in fetuses and infants. Existing data on prognostic imaging features, as well as the associated morbidity and mortality, are limited and variable. We therefore reviewed cases of tDSMs diagnosed on fetal magnetic resonance imaging (MRI) at our referral center to identify pre- and postnatal MRI imaging features associated with long-term outcomes. MethodsWe searched our imaging database for fetal and postnatal MRI reports of tDSM cases. The electronic medical record was then reviewed for pre- and postnatal clinical data, including follow-up imaging. Neurological outcomes were characterized using the previously reported scale based on the Bicêtre Score. Imaging features association with outcome scores were compared using the Fisher exact test. ResultsSixteen cases of tDMS diagnosed by fetal MRI with postnatal clinical follow-up were identified, 11 of whom underwent postnatal MRI. The majority of cases of tDSM (73%) decreased in size or resolved on postnatal follow-up study without treatment. Restricted diffusion and parenchymal hemorrhage on fetal MRI were the only imaging features identified significantly associated with unfavorable neurological outcome or death, present in two patients with poor outcomes (two of two) and only one with a normal outcome (one of 14) (P = 0.025). ConclusionsFindings of tDSM on fetal MRI most often regress and/or resolve with normal or mild neurological outcomes, with the most significant predictor of poor outcome being the presence of parenchymal injury on fetal MRI. In addition, a subset will present with venolymphatic malformations.

A comparison of the accuracy of fetal magnetic resonance imaging and ultrasonography for the diagnosis of fetal congenital malformations of the spine and spinal cord.

To determine the diagnostic value of fetal magnetic resonance imaging (MRI) for congenital spine/spinal cord malformations. This single-center retrospective study included 120 cases of fetal spine/spinal cord abnormalities detected using fetal ultrasonography (US) and further examined by fetal MRI between 2016 and 2020. Cases were divided into three groups (congenital spine, spinal cord, and spine+spinal cord malformations) based on US assessment. We analyzed the accuracy of fetal US and MRI relative to postnatal imaging. The diagnostic accuracy of fetal MRI for fetal spinal cord, spine, and spine+spinal cord malformations was 86.2% (25/29), 89.4% (42/47), and 86.3% (38/44), respectively, and the corresponding rates for fetal US were 51.7% (15/29), 87.2% (41/47), and 68.2% (30/44). The diagnostic accuracy did not differ between fetal MRI and US for congenital spine malformations (p>0.05); for congenital spinal cord malformations and congenital spine+spinal cord malformations, the diagnostic accuracy was significantly higher for fetal MRI than for fetal US (p<0.05). Fetal MRI is effective in the assessment of congenital spine/spinal cord malformations. It can yield information that supplements US findings, especially for congenital spinal cord malformations, and can improve the accuracy of fetal diagnosis.

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. Such precise prenatal information allows for intervention before birth in select cases or for adapting the postnatal workup to provide a better long-term outcome. For the different types of congenital uropathies, we describe their prenatal presentations on US and the complementary role of fetal MRI where indicated. We correlate these findings with postnatal workup and summarize the updated neonatal diagnostic and clinical/surgical management.

Discordant Post-natal Patterns in Fetuses With Heterotaxy Syndrome: A Retrospective Single-Centre Series on Outcome After Fetal Diagnosis.

ObjectiveCardiac and extra-cardiac anomalies in 46 pre-natally diagnosed cases of heterotaxy were compared to post-natal anatomical patterns in order to reveal discordant findings. Second, the outcome of these fetuses was evaluated.MethodsFetuses with heterotaxy, diagnosed in a tertiary referral centre, were analysed retrospectively. Based on the foetal abdominal situs view, right atrial isomerism (RAI) and left atrial isomerism (LAI) were defined as foetal sub-types. Post-natally, discordant anatomical patterns for broncho-pulmonary branching, atrial appendage morphology, and splenic status were further clarified with CT scans. In summary, the spectrum of pre-natally and post-natally detected cardiac and extra-cardiac anomalies is systematically reviewed. Necessary surgical interventions and mid-long-term outcomes were compared between the two sub-types in surviving infants.ResultsA total of 46 fetuses with heterotaxy were included; LAI was diagnosed in 29 (63%) fetuses and RAI was diagnosed in 17 (37%) fetuses. Extra-cardiac anomalies were noted in 35% of fetuses. Seven out of the 29 fetuses (24%) with LAI had atrio-ventricular block (AVB) and four of these cases presented with hydrops. Twenty nine out of the 46 participating fetuses (63%) were live births, with 62% in the LAI group and 65% in the RAI group. Five fetuses were lost to follow-up. At the age of 1 year, the overall survival of live births [estimate (95% CI)] was 67% (48; 92%) in patients with LAI and 55% (32; 94%) in patients with RAI. At the age of 5 years, the estimates were 67% (48; 92%) in the LAI group and 46% (24–87%) in the RAI group. The median survival (first quartile; third quartile) was 11.1 (0.1; 14) years for patients with LAI and 1.3 (0.09; NA) years for patients with RAI. Of 17 children who had undergone cardiac surgery, five (29%) children achieved a bi-ventricular repair and 12 (70%) children achieved a uni-ventricular palliation. Three were primarily palliated, but converted to bi-ventricular thereafter. Foetal subtype definition of heterotaxy based on the abdominal situs and post-natal thoracic imaging studies showed a discordant pattern of broncho-pulmonary branching and atrial appendage anatomy in 40% of our live-born children.ConclusionHeterotaxy is a rare and complex condition with significant morbidity and mortality related to severe cardiac and extra-cardiac associations. Accurate pre-natal diagnosis can help identify the fetuses at risk and allow for timely intervention in a multi-disciplinary setting. Further studies are warranted to shed light on the exact sub-type definition in fetuses with heterotaxy and the presence of discordant post-natal patterns.

Congenital orbital teratoma: A case report with foetal presentation

Congenital orbital teratomas are rare entities with few case reports detailing their prenatal and perinatal imaging features. We present the case of a congenital orbital teratoma initially detected as cystic lesion on prenatal ultrasound, with foetal and postnatal imaging showing evolution of characteristic MRI appearances. Knowledge of these appearances and the ability to diagnose these rare entities in foetal life can aid management and operative planning in the immediate postnatal period.