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Objective Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in children. In addition to typical focal or diffuse HI, some cases with diazoxide-unresponsive congenital HI have atypical pancreatic histology termed Localized Islet Nuclear Enlargement (LINE) or mosaic HI, characterized by histologic features similar to diffuse HI, but confined to only a region of pancreas. Our objective was to characterize the phenotype and genotype of children with LINE-HI. Design The phenotype and genotype features of 12 children with pancreatic histology consistent with LINE-HI were examined. Methods We compiled clinical features of 12 children with LINE-HI and performed next-generation sequencing on specimens of pancreas from eight of these children to look for mosaic mutations in genes known to be associated with diazoxide-unresponsive HI (ABCC8, KCNJ11, and GCK). Results Children with LINE-HI had lower birth weights and later ages of presentation compared to children with typical focal or diffuse HI. Partial pancreatectomy in LINE-HI cases resulted in euglycemia in 75% of cases; no cases have developed diabetes. Low-level mosaic mutations were identified in the pancreas of six cases with LINE-HI (three in ABCC8, three in GCK). Expression studies confirmed that all novel mutations were pathogenic. Conclusion These results indicate that post-zygotic low-level mosaic mutations of known HI genes are responsible for some cases of LINE-HI that lack an identifiable germ-line mutation and that partial pancreatectomy may be curative for these cases.

OBJECTIVE The purpose of this secondary analysis was to assess the role of hydrocephalus on neurodevelopmental outcomes in a cohort of school-age children enrolled in the Management of Myelomeningocele Study (MOMS) clinical trial. METHODS The sample analyzed in this report consisted of 150 of 183 children aged 5–10 years (mean ± SD 7 years 8 months ± 1.2) who were randomly assigned between 20 and 26 weeks of gestational age to undergo either prenatal or postnatal surgery and were enrolled in the school-age follow-up study of MOMS. These 150 children (76 prenatal and 74 postnatal) were placed into three groups: no hydrocephalus (n = 22), unshunted hydrocephalus (n = 31), and shunted hydrocephalus (n = 97). Comparisons were made on the basis of measures of adaptive behavior, intelligence, reading and math skills, verbal and nonverbal memory, fine motor dexterity, and sensorimotor skills. Parent ratings of executive functions, inattention, and hyperactivity-impulsivity were also compared. RESULTS There were no statistically significant differences in neurodevelopmental outcomes between the groups with no hydrocephalus and unshunted hydrocephalus, or between the prenatal and postnatal groups with shunted hydrocephalus, so these groups were combined (no/unshunted vs shunted hydrocephalus). The no/unshunted group showed significantly better performance (p < 0.05) than the shunted group in terms of adaptive behavior, intelligence, verbal and nonverbal memory, reading skills (but not math), fine motor dexterity, sensorimotor skills (but not visual-motor integration), and inattention (but not hyperactivity-impulsivity or executive function ratings). An assessment of the prenatal surgery group showed that the combined no/unshunted group performed better than the shunted group in terms of adaptive behavior and verbal memory skills. Both the prenatal and postnatal surgery subgroups with unshunted hydrocephalus performed as well as the group with no hydrocephalus despite significantly enlarged ventricles. CONCLUSIONS Although the primary assessment of school-age outcomes in the MOMS clinical trial did not show better adaptive behavior and cognitive skills in the prenatal group, hydrocephalus and shunting were associated with poorer neurodevelopmental outcomes (both prenatal and postnatal groups). Disease severity and dynamic changes in hydrocephalus status may be the primary factors in the need for shunting and a major determinant of adaptive behavior and cognitive outcomes after prenatal surgery.

PURPOSE In 2014, data from a comprehensive multiplatform analysis of 496 adult papillary thyroid cancer samples reported by The Cancer Genome Atlas project suggested that reclassification of thyroid cancer into molecular subtypes, RAS-like and BRAF-like, better reflects clinical behavior than sole reliance on pathologic classification. The aim of this study was to categorize the common oncogenic variants in pediatric differentiated thyroid cancer (DTC) and investigate whether mutation subtype classification correlated with the risk of metastasis and response to initial therapy in pediatric DTC. METHODS Somatic cancer gene panel analysis was completed on DTC from 131 pediatric patients. DTC were categorized into RAS-mutant ( H-K-NRAS), BRAF-mutant ( BRAF p.V600E), and RET/ NTRK fusion ( RET, NTRK1, and NTRK3 fusions) to determine differences between subtype classification in regard to pathologic data (American Joint Committee on Cancer TNM) as well as response to therapy 1 year after initial treatment had been completed. RESULTS Mutation-based subtype categories were significant in most variables, including age at diagnosis, metastatic behavior, and the likelihood of remission at 1 year. Patients with RET/ NTRK fusions were significantly more likely to have advanced lymph node and distant metastasis and less likely to achieve remission at 1 year than patients within RAS- or BRAF-mut subgroups. CONCLUSION Our data support that genetic subtyping of pediatric DTC more accurately reflects clinical behavior than sole reliance on pathologic classification with patients with RET/ NTRK fusions having worse outcomes than those with BRAF-mutant disease. Future trials should consider inclusion of molecular subtype into risk stratification.

Introduction: The hyperinsulinemia-hyperammonemia syndrome (HIHA) is the second most common cause of congenital hyperinsulinism and is caused by activating heterozygous missense mutations in GLUD1. In the majority of HIHA cases, the GLUD1 mutation is found to be de novo. We have identified 3 patients in whom clinical evaluation was suggestive of HIHA but with negative mutation analysis in peripheral blood DNA for GLUD1 as well as other known HI genes. Methods: We performed next-generation sequencing (NGS) on peripheral blood DNA from two children with clinical features of HIHA in order to look for mosaic mutations in GLUD1. Pancreas tissue was also available in one of these cases for NGS. In addition, NGS was performed on peripheral blood DNA from a woman with a history of HI in infancy whose child had HIHA due to a presumed de novo GLUD1 mutation. Results: Mosaic GLUD1 mutations were identified in these 3 cases at percent mosaicism ranging from 2.7% to 10.4% in peripheral blood. In one case with pancreas tissue available, the mosaic GLUD1 mutation was present at 17.9% and 28.9% in different sections of the pancreas. Two unique GLUD1 mutations were identified in these cases, both of which have been previously reported (c.1493c>t/p.Ser445Leu and c.820c>t/p.Arg221Cys). Conclusion: The results suggest that low-level mosaic mutations in known HI genes may be the underlying molecular mechanism in some children with HI who have negative genetic testing in peripheral blood DNA.

Purpose: To better understand the clinical course and impact of tethered cord release surgery on patients who have previously undergone open spinal dysraphism closure in utero. Methods: This is a single-center retrospective observational study on patients undergoing tethered cord release after having previously had open fetal myelomeningocele (MMC) closure. All patients underwent tethered cord release surgery with a single neurosurgeon. A detailed analysis of the patients’ preoperative presentation, intraoperative neuromonitoring (IONM) data, and postoperative course was performed. Results: From 2009 to 2021, 51 patients who had previously undergone fetal MMC closure had tethered cord release surgery performed. On both preoperative and postoperative manual motor testing, patients were found to have on average 2 levels better than would be expected from the determined anatomic level from fetal imaging. The electrophysiologic functional level was found on average to be 2.5 levels better than the anatomical fetal level. Postoperative motor levels when tested on average at 4 months were largely unchanged when compared to preoperative levels. Unlike the motor signals, 46 (90%) of patients had unreliable or undetectable lower extremity somatosensory evoked potentials (SSEPs) prior to the tethered cord release. Conclusion: Tethered cord surgery can be safely performed in patients after open fetal MMC closure without clinical decline in manual motor testing. Patients often have functional nerve roots below the anatomic level. Sensory function appears to be more severely affected in patients leading to a consistent motor-sensory imbalance.

Introduction: Risk of malignancy for pediatric thyroid nodules classified according to The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) is not well defined. Correlations between risk of malignancy and ancillary clinical data remain inconclusive. We report a single institutional experience of fine-needle aspiration (FNA) to improve upon current management paradigm of thyroid nodules. Methods: A retrospective chart review of 575 thyroid nodules was performed of 324 patients who underwent 340 FNAs between 2008 and 2018 at the Children’s Hospital of Philadelphia. Demographics, ultrasound (US) characteristics, FNA cytology, surgical pathology, and ancillary data were reviewed. Results: The rate of malignancy according to TBSRTC was 0.0% for category I, 0.8% for category II, 15.6% for category III, 54.5% for category IV, 100.0% for category V, and 100.0% for category VI. The cumulative Thyroid Imaging Reporting and Data System (TI-RADS) score was significantly correlated with benign and malignant nodules on pathology (p < 2.2e−16). Distribution of TI-RADS for cytologically indeterminate nodules with benign or malignant pathology revealed significant differences for composition (p = 3.20e−8) and echogenic foci (p = 0.005) but not for echogenicity (p = 0.445), shape (p = 0.160), margins (p = 0.220), and size (p = 0.105). Distributions of thyroid-stimulating hormone levels between benign and malignant patients was significant (p = 1.58e−3). Conclusions: Nodules with TI-RADS scores >3 should undergo FNA, irrespective of size; surgical resection is recommended for nodules classified as TBSRTC category IV and V due to high risk of malignancy. US surveillance instead of FNA can be performed for nodules with TI-RADS scores ≤3.

Introduction: Depressive risk is higher for mothers of infants with chronic medical conditions. The present study examined maternal depressive risk and associations with parent and child outcomes among mothers of young children who were randomized to either prenatal or postnatal surgical closure for myelomeningocele. Methods: Using the Management of Myelomeningocele Study database, maternal depressive risk was examined at 3 time points as follows: prior to birth, 12 months, and 30 months post birth. Separate multivariate analyses examined associations among change in depressive risk (between baseline and 30 months), parenting stress, and child outcomes at 30 months. Results: Mean scores were in the minimal depressive risk range at all the time points. Post birth depressive risk did not differ by prenatal versus postnatal surgery. Mean change scores reflected a decrease in depressive risk during the first 30 months. Only 1.1–4.5% of mothers reported depressive risk in the moderate to severe range across time points. Increased depressive risk during the first 30 months was associated with increased parenting stress scores and slightly lower child cognitive scores at 30 months. Conclusion: Most mothers reported minimal depressive risk that decreased over time, regardless of whether their infant underwent prenatal or postnatal surgery. Only a small percentage of mothers endorsed moderate to severe depressive risk, but an increase in depressive risk over time was associated with higher parental stress and slightly lower child cognitive development.

Introduction: The diagnostic utility of molecular profiling for the evaluation of indeterminate pediatric thyroid nodules is unclear. We aimed to assess pediatric cases with indeterminate thyroid fine-needle aspiration (FNA) alongside clinicopathologic features and mutational analysis. Methods: A retrospective review of 126 patients with indeterminate cytology who underwent FNA between January 2010 and December 2021 at the Children’s Hospital of Philadelphia was performed. Indeterminate cases defined by The Bethesda System for Reporting Thyroid Cytopathology (AUS/FLUS or TBSRTC III; FN/SFN or TBSRTC IV; SM or TBSRTC V) were correlated to clinicopathologic and genetic characteristics. Results: Of the 114 surgical cases, 48% were malignant, with the majority of malignant cases diagnosed as follicular variant of papillary thyroid carcinoma (28/55). Risk of malignancy increased with TBSRTC category: 23% for AUS/FLUS, 51% for FN/SFN, and 100% for SM nodules. There were significant differences in surgical approach (p < 0.01), performance of lymph node dissection (p < 0.01), histological diagnosis (p < 0.01), primary tumor focality/laterality (p = 0.04), and lymphatic invasion (p = 0.02) based on TBSRTC classification, with resultant differences in post-surgical risk stratification per American Thyroid Association (ATA) Pediatric Guidelines (p = 0.01). Approximately 89% (49/55) of cases were classified as ATA low risk, and 5 of 6 patients with ATA intermediate- or high-risk disease had SM cytology. Somatic molecular testing was performed in 40% (51/126) of tumors; 77% (27/35) of malignant cases and 38% (6/16) of benign cases harbored driver alteration(s). Of the driver-positive malignant cases, 52% (14/27) were associated with low risk (DICER1, PTEN, RAS, and TSHR mutations), 33% (9/27) were associated with high risk (BRAF mutations and ALK, NTRK, and RET fusions), and 15% (4/27) had unreported risk for invasive disease (APC, BLM, and PPM1D mutations and TG-FGFR1 fusion). Incidence of high-risk drivers increased with TBSRTC category. Approximately 23% (8/35) of patients harboring thyroid malignancy did not have an identifiable driver alteration. Conclusions: Molecular analysis is useful to discriminate benign and malignant thyroid nodules with indeterminate cytology. Patients with driver genetic alteration(s) and indeterminate cytology should consider surgical management secondary to the high incidence (82%; 27/33) of thyroid malignancy in these patients.

Childhood cancer survivors (CCS) are at increased risk for thyroid disease, and many require definitive management with thyroid surgery. Despite this, there is limited evidence on surgical outcomes among CCS. We sought to evaluate postoperative outcomes at our institution among CCS undergoing thyroid surgery compared to patients without a history of primary childhood malignancy.Medical records were reviewed for 638 patients treated at the Children's Hospital of Philadelphia Pediatric Thyroid Center between 2009 and 2020. Rates of surgical complications, including recurrent laryngeal nerve (RLN) paralysis and hypoparathyroidism, among CCS were compared to patients with sporadic/familial thyroid cancer, Graves' disease, and other benign thyroid conditions. Operative time and intraoperative parathyroid hormone levels were also evaluated.There were no significant differences in long-term surgical complication rates, such as permanent RLN paralysis and hypoparathyroidism, between CCS and patients without a history of primary childhood malignancy (all p .05). For all surgical outcomes, there were no significant differences in complication rates when CCS were compared to those undergoing surgery for sporadic/familial thyroid cancer or Graves' disease (all p .05). CCS with benign final pathology had significantly higher rates of transient hypoparathyroidism compared to patients with benign thyroid conditions (p .001).Our study suggests that CCS are not at higher risk of long-term complications from thyroid surgery when treated by high-volume surgeons within a multidisciplinary team.

Fetal lung lesions include common lesions such as congenital pulmonary airway malformation (CPAM), bronchopulmonary sequestration (BPS) and combined CPAM-BPS hybrid lesions, as well as less common entities including congenital lobar emphysema/obstruction, bronchial atresia, bronchogenic cysts and rare malignant pulmonary lesions such as pleuropulmonary blastoma. Fetal lung lesions occur in approximately 1 in 15,000 live births and are thought to arise from a spectrum of abnormalities related to airway obstruction and malformation, with the lesion type depending on the timing of insult, level of bronchial tree involvement, and severity of obstruction. Lesions vary from small and asymptomatic to large and symptomatic with significant mass effect on surrounding structures. Accurate diagnosis and characterization of these anomalies is crucial for guiding patient counseling as well as perinatal and postnatal management. The goal of this review is to provide an overview of normal fetal lung appearance and imaging features of common and uncommon lesions on both ultrasound and MR imaging, and to discuss key aspects in reporting and evaluating the severity of these lesions.

Background MRI performed at 3.0 T offers greater signal-to-noise ratio and better spatial resolution than does MRI performed at 1.5 T; however, for fetal MRI, there are concerns about the potential for greater radiofrequency energy administered to the fetus at 3.0-T MRI. Purpose To compare the specific absorption rate (SAR) and specific energy dose (SED) of fetal MRI at 1.5 and 3.0 T. Materials and Methods In this retrospective study, all fetal MRI examinations performed with 1.5- and 3.0-T scanners at one institution between July 2012 and October 2016 were evaluated. Two-dimensional (2D) and three-dimensional (3D) steady-state free precession (SSFP), single-shot fast spin-echo, 2D and 3D T1-weighted spoiled gradient-echo (SPGR), and echo-planar imaging sequences were performed. SAR, SED, accumulated SED, and acquisition time were retrieved from the Digital Imaging and Communications in Medicine header. Data are presented as mean ± standard deviation. Two one-sided tests with equivalence bounds of 0.5 (Cohen

BACKGROUND: Primary hyperparathyroidism (PHPT) in children and adolescents is uncommon. Data-driven guidelines for management in pediatric patients are limited. METHODS: We performed a retrospective cohort analysis of all patients (1997-2017) with PHPT ≤21 years of age who underwent parathyroidectomy at three institutions. Clinical and demographic variables were analyzed. Primary operative outcome was cure (normocalcemia >6 months after surgery); secondary outcome was operative success (intraoperative parathyroid hormone (IOPTH) decrease of ≥50%). RESULTS: We identified 86 patients with a median age of 17 years (IQR:14,19); 64% (n=55) were female. The mean preoperative serum calcium was 11.7 mg/dL, median parathyroid hormone (PTH) was 110 pg/mL, and median urine calcium was 4.1 mg/kg/24 hours. Preoperatively, sestamibi scan localized in 41/71 patients (58%); neck ultrasound localized in 19/44 (43%). The most common pathology at surgery was a single eutopic parathyroid adenoma in 71% (n=61). A high incidence of ectopic adenomas (25%, n=22) was observed, most commonly intrathymic (n=13), followed by tracheoesophageal groove (n=5), carotid sheath (n=2) and intrathyroidal (n=2). Of 56 patients with retrievable data >6 months postoperatively, cure was achieved in 55 of 56 patients (98%). One patient who presented to us with parathyromatosis requiring subsequent reoperation. CONCLUSION: In this multi-institutional series of PHPT in children and adolescents, the majority were sporadic PHPT and were due to a single adenoma. We observed a high incidence of ectopic parathyroid adenomas, most commonly intrathymic. Given the high risk for ectopic adenoma in pediatric patients, parathyroid surgery in children and adolescents should be performed by experienced surgeons.

Background: Congenital pulmonary airway malformations (CPAM), bronchopulmonary sequestrations (BPS), and CPAM-BPS hybrid lesions are most commonly solitary; however, >1 lung congenital lung lesion may occur. Objectives: To assess the frequency of multiple congenital thoracic anomalies at a high-volume referral center; determine prenatal ultrasound (US) and magnetic resonance imaging (MRI) features of these multifocal congenital lung lesions that may allow prenatal detection; and determine the most common distribution or site of origin. Methods: Database searches were performed from August 2008 to May 2019 for prenatally evaluated cases that had a final postnatal surgical diagnosis of >1 congenital lung lesion or a lung lesion associated with foregut duplication cyst (FDC). Lesion location, size, echotexture, and signal characteristics were assessed on prenatal imaging and correlated with postnatal computed tomographic angiography and surgical pathology. ­Results: Of 539 neonates that underwent surgery for a thoracic lesion, 35 (6.5%) had >1 thoracic abnormality. Multiple discrete lung lesions were present in 19 cases, and a lung lesion associated with an FDC was present in 16. Multifocal lung lesions were bilateral in 3 cases; unilateral, multilobar in 12; and, unilobar multisegmental in 4. Median total CPAM volume/head circumference ratio for multifocal lung lesions on US was 0.66 (range, 0.16–1.80). Prenatal recognition of multifocal lung lesions occurred in 7/19 cases (36.8%). Lesion combinations were CPAM-CPAM in 10 cases, CPAM-BPS in 5, CPAM-hybrid in 2, hybrid-hybrid in 1, and hybrid-BPS in 1. Of 5 unilateral, multifocal lung lesions, multifocality was prenatally established through identification of a band of normal intervening lung or intrinsic differences in lesion imaging features. Conclusions: Although less common, multiple thoracic abnormalities can be detected prenatally. Of multifocal lung lesions, the most common combination was CPAM-CPAM, with a unilateral, multilobar distribution. Prenatal recognition is important for pregnancy counseling and postnatal surgical management.

Introduction: The Management of Myelomeningocele Study was a multicenter randomized trial to compare prenatal and standard postnatal repair of myelomeningocele (MMC). Neonatal outcome data for 158 of the 183 randomized women were published in The New England Journal of Medicine in 2011. Objective: Neonatal outcomes for the complete trial cohort (N = 183) are presented outlining the similarities with the original report and describing the impact of gestational age as a mediator. Methods: Gestational age, neonatal characteristics at delivery, and outcomes including common complications of prematurity were assessed. Results: Analysis of the complete cohort confirmed the initial findings that prenatal surgery was associated with an increased risk for earlier gestational age at birth. Delivery occurred before 30 weeks of gestation in 11% of neonates that had fetal MMC repair. Adverse pulmonary sequelae were rare in the prenatal surgery group despite an increased rate of oligohydramnios. There was no significant difference in other complications of prematurity including patent ductus arteriosus, sepsis, necrotizing enterocolitis, periventricular leukomalacia, and intraventricular hemorrhage. Conclusion: The benefits of prenatal surgery outweigh the complications of prematurity.

Background: Open maternal-fetal surgery for in utero closure of myelomeningocele (MMC) has become an accepted treatment option for prenatally diagnosed open neural tube defects. Historically, this option has been limited to women with BMI < 35 due to concern for increasing complications in patients with obesity. Objective: The aim of this study was to evaluate maternal, obstetric, and fetal/neonatal outcomes stratified by maternal BMI classification in women who undergo open maternal-fetal surgery for fetal myelomeningocele (fMMC) closure. Methods: A single-center fMMC closure registry was queried for maternal demographics, preoperative factors, fetal surgery outcomes, delivery outcomes, and neonatal outcomes. Data were stratified based on maternal BMI: Results: A total of 264 patients were analyzed, including 196 (74.2%) with BMI Conclusion: Increasing maternal BMI did not result in a negative impact on maternal, obstetric, and fetal/neonatal outcomes in a large cohort of patients undergoing open maternal-fetal surgery for fMMC closure. Further study is warranted to determine the generalizability of these results.

Both congenital cystic adenomatoid malformation (CCAM) and lambdoid craniosynostosis are exceedingly rare, with estimated incidences of around 1 in 30,000 live births for each. Herein, we present a case of a patient with prenatally diagnosed CCAM requiring 4 doses of prenatal steroids and ultimately thoracotomy with right lower lobectomy. The operation was uncomplicated, and genome-wide analysis of SNPs revealed no pathologic abnormalities. Development was normal until head shape changes were noted at 5 months of age at which point evaluation by a craniofacial surgeon and 3D CT imaging revealed left-sided lambdoid craniosynostosis. The patient underwent uncomplicated posterior and middle vault expansion and remodeling of his lambdoid synostosis at 11 months of age. This paper explores the etiopathogenesis of CCAM and lambdoid craniosynostosis in an attempt to identify common pathways involved in the development of these exceedingly rare diseases which, to date, have not been described in the peer-reviewed literature.

BACKGROUND: Myelomeningocele is the most common form of spina bifida and is characterized by extrusion of the spinal cord through a spinal canal defect. It often results in lifelong disability and significant orthopaedic issues such as spinal deformity, hip abnormalities, and clubfoot. A randomized controlled trial has shown efficacy of prenatal repair in decreasing the need for shunting and improving motor outcomes. However, no studies have evaluated the effects of prenatal repair on orthopaedic outcomes. The purpose of this study was to determine the rates of orthopaedic conditions in patients with prenatal and postnatal repair of myelomeningocele, as well as compare the rates of treatment required for orthopaedic conditions. METHODS: This study analyzes the relevant outcomes from a prospective randomized controlled trial (Management of Myelomeningocele Study, MOMS). Eligible women were randomized to prenatal or postnatal repair, and patients were evaluated prospectively. Outcomes of interest included rates of scoliosis, kyphosis, hip abnormality, clubfoot, tibial torsion, and leg length discrepancy at 12 months and 30 months. Additionally, we evaluated the need for orthopaedic intervention, notably casting and bracing at the same time points. Statistical analyses included descriptive statistics and univariate analyses. RESULTS: The data for the full cohort of 183 patients was analyzed (91 prenatal, 92 postnatal). Patient demographics have been previously described by the MOMS investigators. There were no differences in the rates of scoliosis, kyphosis, hip abnormality, clubfoot or tibial torsion between patients treated with prenatal or postnatal repair. However, the rate of leg length discrepancy was lower in the prenatal repair group at 12 months and 30 months (7% vs. 16% at 30 months, p = 0.047). In addition, the rates of patients requiring casting or bracing was significantly lower in patients treated with prenatal repair at 12 months and 30 months (78% vs. 90% at 30 months, p = 0.036). CONCLUSION: Patients that are treated with prenatal repair of myelomeningocele may develop milder forms of orthopaedic conditions and may not require extensive orthopaedic management.

Introduction: Thyroid lobectomy reduces risks of surgical complications and need for levothyroxine (LT4). We aimed at identifying the clinical course and risk factors for postlobectomy hypothyroidism to optimize surgical counseling and management in pediatric patients undergoing lobectomy. Methods: Clinical and biochemical presentations pre- and postlobectomy were retrospectively reviewed for 110 patients who underwent thyroid lobectomy between 2008 and 2020 at the Children's Hospital of Philadelphia. Results: Approximately 28.2% of patients (31/110) developed postlobectomy hypothyroidism defined by an elevated thyrotropin (TSH) level, including 24.5% (27/110) with subclinical hypothyroidism (TSH >4.5 and 10.0 mIU/L). LT4 was initiated in 12.7% (14/110) of cases. Most patients (81.6%; 84/103) recovered euthyroidism within 12 months postlobectomy. When excluding patients with autonomous nodule(s), median preoperative TSH was 1.09 (interquartile range [IQR] = 0.70–1.77) mIU/L and 1.80 (IQR = 1.02–2.68) mIU/L in euthyroid and hypothyroid patients, respectively, with multivariate logistic regression confirming the association between an increased preoperative TSH and postlobectomy hypothyroidism (odds ratio = 1.8 [confidence interval 1.08–3.13], p = 0.024). Of the patients who underwent thyroid lobectomy and developed postoperative hypothyroidism (n = 31), 38.7% (12/31) had a preoperative diagnosis of an autonomously functioning thyroid nodule. Conclusions: Thyroid function should be evaluated postlobectomy to assess the need for LT4. LT4 should be considered if the TSH remains elevated, especially if an upward trend is observed or TSH is >10.0 mIU/L. Suppressed preoperative TSH associated with autonomous nodules is an independent risk factor for postlobectomy hypothyroidism.

Importance The current recommendation for pediatric patients with papillary thyroid cancer (PTC) is a total thyroidectomy. This recommendation applies to all stages of PTC, including papillary thyroid microcarcinoma (≤1 cm, T1a) tumors. Objective To evaluate the characteristics of American Joint Committee on Cancer T1 PTC tumors in a large pediatric population and to identify a subgroup of patients who may benefit from a thyroid lobectomy instead of a total thyroidectomy. Design, Setting, and Participants This retrospective cohort study was conducted from January 1, 2009, to May 31, 2020. The study took place at a tertiary care medical center and included 102 patients who were surgically treated for T1 PTC: 52 with stage T1a (≤1 cm) tumors and 50 with stage T1b (>1 cm but ≤2 cm) tumors. Main Outcomes and Measures Primary outcomes included the presence of bilateral disease and lymph node metastasis. Results A total of 102 patients (mean age, 15.3 years [range, 9.7-18.9 years]; 84 girls [82.4%]) were included in the analysis. Among 52 patients with T1a tumors, 10 (19.2%) had bilateral disease, and 15 (28.8%) had central neck lymph node (N1a) metastasis. Among 50 patients with T1b tumors, 10 (20%) had bilateral and 13 (26%) had N1a disease. Of those with T1a, unilateral multifocality was associated with bilateral disease (odds ratio [OR], 2.1; 95% CI, 1.3-3.4) and N1a disease (OR, 5.1; 95% CI, 1.5-17.6). Both N1a disease (OR, 20.0; 95% CI, 3.5-115.0) and ≥4 positive lymph nodes (OR, 8.6; 95% CI, 1.2-60.9) were associated with bilateral disease. In patients with no pathologic evidence of lymph node metastasis (N0), there was a 95% rate of unilateral PTC. In patients with T1b tumors, unilateral multifocality was also associated with bilateral disease (OR, 1.8; 95% CI, 1.3-2.7). Patients with T1b tumors had an increased risk of lateral (N1b) neck lymph node metastasis when compared with those with T1a tumors (OR, 3.7; 95% CI, 1.0-14.5). Conclusions and Relevance The findings of this cohort study suggest that, in patients with unifocal T1a PTC without clinically evident nodal disease on preoperative ultrasonography, a thyroid lobectomy and central neck dissection may be considered. If there is no evidence of unilateral multifocality or if there are fewer than 4 positive lymph nodes on postoperative pathology, then close observation may be considered. These findings have substantial clinical implications and may result in practice changes regarding the extent of thyroid surgery on low-stage pediatric PTC.

To examine the association between prenatal magnetic resonance imaging (MRI) based observed/expected total lung volume (O/E TLV) and outcome in neonates with giant omphalocele (GO).Between 06/2004 and 12/2019, 67 cases with isolated GO underwent prenatal and postnatal care at our institution. MRI-based O/E TLVs were calculated based on normative data from Meyers and from Rypens and correlated with postnatal survival and morbidities. O/E TLV scores were grouped based on severity into25% (severe), between 25% and 50% (moderate), and50% (mild) for risk stratification.O/E TLV was calculated for all patients according to Meyers nomograms and for 49 patients according to Rypens nomograms. Survival for GO neonates with severe, moderate, and mild pulmonary hypoplasia based on Meyers O/E TLV categories was 60%, 92%, and 96%, respectively (p = 0.04). There was a significant inverse association between Meyers O/E TLV and risk of neonatal morbidities (p 0.05). A similar trend was observed with Rypens O/E TLV, but associations were less often significant likely related to the smaller sample size.Neonatal outcomes are related to fetal lung size in isolated GO. Assessment of Meyers O/E TLV allows identification of GO fetuses at greatest risk for complications secondary to pulmonary hypoplasia.

Mediastinal and pericardial teratomas have overlapping imaging features that may make accurate prenatal diagnosis challenging.To identify prenatal imaging features that may aid in distinguishing between mediastinal and pericardial teratomas.Prenatally diagnosed pericardial and mediastinal teratomas evaluated at our fetal center from 1995 to 2020 were included in this Institutional Review Board-approved study. Lesion volume was calculated using prospectively reported ultrasound (US) measurements and the formula of a prolate ellipsoid, which was then normalized to head circumference. Prenatal US and magnetic resonance imaging (MRI) studies were anonymized with two fetal imagers reviewing the US studies and two different fetal imagers reviewing the MRI studies. These experienced reviewers scored location of the mass in the craniocaudal axis and in the transverse axis. MRI reviewers also scored the presence of inferior cardiac compression by the lesion and whether there was identifiable thymic tissue. Reviewer disagreements were resolved by consensus review.Eleven pericardial teratomas and 10 mediastinal teratomas were identified. All cases underwent detailed fetal anatomic US and fetal echocardiogram and 10/11 (91%) pericardial teratomas and 8/10 (80%) mediastinal teratomas underwent fetal MRI. Median volume was higher for mediastinal teratomas compared to pericardial teratomas (42.5 mL [interquartile range (IQR) 15.9 - 67.2 mL] vs. 8.1 mL [IQR 7.7 - 27.7 mL], P=0.01) and median volume/head circumference was also statistically higher in mediastinal teratomas (1.33 [IQR 0.78 - 2.61] vs. 0.43 [IQR 0.38 - 1.10], P=0.01). Logistic regression analysis demonstrated a statistical difference between teratoma types with respect to location in the craniocaudal axis by both modalities with mediastinal teratomas more commonly located in the upper and upper-middle thorax compared to pericardial teratomas, which were more commonly found in the middle thorax (US, P=0.03; MRI, P=0.04). Logistic regression analysis also demonstrated a statistical difference between teratoma types with respect to position along the transverse axis by both modalities with mediastinal teratomas more commonly located midline or left paramedian and pericardial teratomas more often right paramedian in location (US, Plt;0.01; MRI, P=0.02). Inferior cardiac compression observed by MRI was associated more commonly with mediastinal teratomas compared to pericardial teratomas (87.5% [7/8] vs. 10% [1/10], Plt;0.01). Identifiable thymus by MRI was more commonly observed in cases of pericardial teratomas, however, this difference was not statistically significant (P=0.32).Mediastinal teratomas are associated with larger lesion size and inferior cardiac compression when compared to pericardial teratomas. These features combined with lesion location in the craniocaudal and transverse axes may allow for more accurate prenatal diagnosis and optimal perinatal and surgical management.

PURPOSE: Beckwith–Wiedemann syndrome (BWS) is a human genomic imprinting disorder characterized by lateralized overgrowth, macroglossia, abdominal wall defects, congenital hyperinsulinism, and predisposition to embryonal tumors. One of the molecular etiologies underlying BWS is paternal uniparental isodisomy of chromosome 11p15.5 (pUPD11). About 8% of pUPD11 cases are due to genome-wide paternal uniparental isodisomy (GWpUPD). About 30 cases of live-born patients with GWpUPD have been described, most of whom were mosaic and female. We present male patients with BWS due to GWpUPD, elucidate the underlying mechanism, and make recommendations for management. METHODS: Three male patients with GWpUPD underwent clinical and molecular evaluation by single-nucleotide polymorphism (SNP) microarrays in different tissues. Previously published cases of GWpUPD were reviewed. RESULTS: SNP microarray demonstrated a GWpUPD cell population with sex chromosomes XX and biparental cell population with sex chromosomes XY, consistent with dispermic androgenetic chimerism. CONCLUSION: SNP microarray is necessary to distinguish GWpUPD cases and the underlying mechanisms. The percentage of GWpUPD cell population within a specific tissue type correlated with the amount of tissue dysplasia. Males with BWS due to GWpUPD are important to distinguish from other molecular etiologies because the mechanism indicates risk for germ cell tumors and autosomal recessive diseases in addition to other BWS features.

BACKGROUND The Management of Myelomeningocele Study (MOMS) demonstrated that fetal myelomeningocele (fMMC) closure results in improved hydrocephalus and hindbrain herniation when compared to postnatal closure. OBJECTIVE To report on the outcomes of a single institution's experience in the post-MOMS era, with regard to hydrocephalus absence and hindbrain herniation resolution. METHODS A single-center retrospective study of a subset of post-MOMS patients who underwent fetal/postnatal myelomeningocele closure was performed. Primary outcomes included cerebrospinal fluid (CSF) diversion status and hindbrain herniation resolution. Families were contacted via telephone for outcome information if care was transitioned to outside institutions. Univariate/multivariable analyses were performed using several prenatal and postnatal variables. RESULTS From January 2011 to May 2016, data were reviewed from families of 62 postnatal and 119 fMMC closure patients. In the postnatal group, 80.6% required CSF diversion compared to 38.7% fetal cases (P

Asymptomatic cystic lung lesions-congenital pulmonary airway malformations (CPAMs), sequestrations, and bronchogenic cysts-are commonly diagnosed prenatally. Indications to resect are to eliminate risk of malignancy or infection. CPAMs consist of a spectrum of malformations, with type 1 historically considered the most common. Mucinous cell clusters, seen almost exclusively in type 1, are premalignant lesions at risk for progression to mucinous adenocarcinoma. We reviewed and classified 2.5 years of consecutive, prenatally diagnosed lesions as extralobar sequestration, intralobar sequestration, type 1 CPAM, type 2 CPAM/bronchial atresia, or "other" to determine the distribution of lesion types and risk of malignancy. One hundred eighty-four lesions in 174 patients showed type 1 CPAM to be least common subtype. Type 1 CPAMs had more severe presentation, infrequently had features of obstruction, and usually had cysts ≥2 cm. Fifteen of eighteen type 1 CPAMs had mucinous cell clusters (total risk, 8%), with mucous cells outside main cyst in 12/15. No pleuropulmonary blastomas were identified. Additional historic cases were reviewed to further evaluate risk of malignancy. Over 14 years, 28 infants with fetal/type 1 lesions were identified, with clusters of mucinous cells in 75% of cases. A total of 9 pleuropulmonary blastomas were diagnosed in 6 patients over 16 years. Contrary to historical studies, type 1 CPAMs are much less common than type 2, likely related to detection of asymptomatic lesions prenatally. A majority of type 1 CPAMs contain mucinous cell clusters. This data is useful in management of patients in centers that do not resect asymptomatic lesions.

10049 Background: Childhood cancer survivors (CCS) are at risk for radiotherapy (RT) late effects, including second malignancies. Optimal screening for thyroid cancer (TC) in CCS post-RT remains controversial. We assessed the clinical benefit of thyroid ultrasound (US) surveillance in CCS exposed to RT. Methods: 316 CCS (175 males) were prospectively surveilled with thyroid US between 2002 and 2021 at the Children’s Hospital of Philadelphia. Patients were screened upon referral to the Survivorship Program. Thyroid US, clinicopathologic features, and endocrine-related outcomes were ascertained. Outcomes were compared using primary CCS diagnosis age cohorts of ≤ 3, > 3 to ≤ 10, and > 10 years. Risk factors for thyroid nodule(s) and TC were evaluated using Kruskal Wallis and ANOVA [OR (95% CI)]. Results: The most common CCS diagnoses were leukemia (32%), CNS tumor (26%), and neuroblastoma (18%). Patients received TBI (43%) and/or RT to craniospinal (43%), chest (13%), and neck regions (7%). About 48% (n = 152) of patients presented thyroid nodule(s) (Table). Forty-six patients underwent surgery, and 28 had TC, including 19 with ATA low-risk, 2 with ATA intermediate-risk, and 7 with ATA high-risk disease. Of the 9 patients with intermediate- or high-risk disease, 5 were ≤ 3 years, 3 were > 3 to ≤ 10 years, and 1 was > 10 years at the time of RT exposure. Eight patients with TC demonstrated pathogenic variant(s). RT exposure at ≤ 3 years old conferred 2-fold increased risk for nodule(s) compared to RT at > 10 years [OR = 2.14 (1.44-2.84) p = 0.03]. Female sex [OR = 1.73 (1.25-2.21) p = 0.02] and greater interval between RT and first US [OR = 1.10 (1.04-1.15) p = 0.001] were additional independent risk factors. Conclusions: Younger age at RT exposure is associated with increased risk of and shorter latency for developing TC. Thyroid US surveillance appears most beneficial in CCS exposed to RT ≤ 3 years old in an effort to diagnose TC at an earlier stage prior to metastasis. [Table: see text]

To investigate antenatally-determined imaging characteristics associated with invasive airway management at birth in patients with cervical masses, as well as to describe postnatal management and outcomes.A retrospective analysis of 52 patients with antenatally diagnosed neck masses was performed using single-center data from January 2008 to January 2019. Antenatal imaging, method of delivery, management, and outcomes data were abstracted from the medical record and analyzed.Antenatal diagnosis of neck masses in this cohort consisted of 41 lymphatic malformations (78.8%), 6 teratomas (11.5%), 3 hemangiomas (5.8%), 1 hemangioendothelioma (1.9%), and 1 giant foregut duplication cyst (1.9%). Mean gestational age at time of diagnostic imaging was 29 weeks 3 days (range: 19w4d - 37w). Overall, 22 patients (42.3%) required invasive airway management at birth, specifically 18 patients (34.6%) required endotracheal intubation and 4 (7.7%) required tracheostomy. 15 patients (28.8%) underwent ex-utero intrapartum treatment (EXIT) for the purposes of securing an airway. Polyhydramnios, tracheal deviation and compression, and anterior mass location on antenatal imaging were significantly associated with incidence of invasive airway intervention at birth, EXIT procedure, and tracheostomy during the neonatal hospitalization (p 0.025; Fisher's exact test). Logistic regression analysis demonstrated statistically significant association between increasing antenatally-estimated mass volume and incidence of invasive airway management at birth (p = 0.02). Post-natal cervical mass management involved surgical excision (32.7%), sclerotherapy (50%), and adjuvant therapy with rapamycin (17.3%). Demise in the neonatal period occurred in 4 (7.7%) patients.This series documents the largest single-center experience of airway management in antenatally diagnosed cervical masses. Fetal imaging characteristics may help inform the appropriate method of delivery, airway management strategy at birth, and prenatal counseling.

Purpose To report the long-term core outcome set of patients with simple gastroschisis. Methods This was a retrospective chart review of all patients with simple gastroschisis managed at our hospital between August 2008 and July 2016. We collected all data included in the core outcome set developed for the standardization of gastroschisis outcomes reporting. We conducted a phone survey of the patients' parents using the PedsQL™ Pediatric Quality of Life Inventory, Cognitive Functioning Scale, and Gastrointestinal Symptoms Scale (GSS). Additionally, parents reported their subjective evaluation of the patients' cosmetic result and overall quality of life. Results There were 124 patients included in the study. The majority (76.5%) was born prematurely at a median gestational age of 36 (range 27.6–38) weeks. At neonatal discharge (median 36 days [18–150] days) most patients were below the 10th percentile for height (81.4%) and weight (87%). Their growth, however, normalized during early childhood. Seven patients (5.6%) required at some point an operation for acute abdominal complications. One-third of patients required long-term treatment for constipation and one-third of patients required long-term treatment for gastroesophageal reflux disease (GERD). Thirty-five parents participated in the phone survey. Mean parent-reported quality of life score was better than healthy controls (87.5% vs. 82.3%, p = 0.049). Cognitive functions and gastrointestinal symptoms scores were similar to healthy controls. All patients are alive. Conclusion Growth restriction in patients with simple gastroschisis is common at birth and during the neonatal period, but it improves during the first three years of life. Abdominal operations are rarely needed in patients with simple gastroschisis. GERD and constipation, on the other hand, are common and often require long-term medical management. The overall parent-reported quality of life of patients with simple gastroschisis is excellent. Level of evidence Level II.

Aim: The optimal gestational age (GA) at delivery and mode of delivery (MoD) for pregnancies with fetal congenital diaphragmatic hernia (CDH) is undetermined. The impact of early term (37–38 weeks 6 days) versus full term (39–40 weeks 6 days) and MoD on immediate neonatal outcomes in prenatally diagnosed isolated CDH cases was evaluated. Material and Methods: A retrospective chart review of pregnancies evaluated and delivered with the prenatal diagnosis of CDH between July 1, 2008, and December 31, 2018. The primary outcome was survival to hospital discharge. Secondary outcomes included neonatal intensive care unit (NICU) length of stay (LOS), extracorporeal membrane oxygenation (ECMO) requirement and need for supplemental oxygen at day 30 of life. Results: A total of 296 patients were prenatally evaluated for CDH and delivered in a single center during the study period. After applying exclusion criteria, data were available on 113 women who delivered early term and 72 women who delivered full term. Survival to hospital discharge was comparable between the 2 groups – 83.2% in the early term versus 93.1% in the full term (p = 0.07; 95% CI of 0.13–1.04). No difference was observed in any other secondary outcomes. MoD was stratified into spontaneous vaginal, induced vaginal, unplanned cesarean and scheduled cesarean delivery with associated neonatal survival rates of 74.2, 90.6, 89.7 and 88.2%, respectively, p = 0.13. The 5-min Apgar score was higher in the elective cesarean group (7.94) followed by the induced vaginal delivery group (7.8) compared to 7.17 and 7.18 in the spontaneous vaginal and unplanned cesarean groups, respectively (p = 0.03). The GA and MoD did not influence survival to hospital discharge nor NICU LOS in multivariate analysis. Conclusions: Though there were no significant differences in neonatal outcomes for early term compared to full term deliveries of CDH neonates, a trend toward improved survival rates and lower ECMO requirements in the full term group may suggest an underlying importance GA at delivery. Further studies are warranted to validate these findings.

Fetal lung lesions include common lesions such as congenital pulmonary airway malformation (CPAM), bronchopulmonary sequestration (BPS) and combined CPAM-BPS hybrid lesions, as well as less common entities including congenital lobar emphysema/obstruction, bronchial atresia, bronchogenic cysts and rare malignant pulmonary lesions such as pleuropulmonary blastoma. Fetal lung lesions occur in approximately 1 in 15,000 live births and are thought to arise from a spectrum of abnormalities related to airway obstruction and malformation, with the lesion type depending on the timing of insult, level of bronchial tree involvement, and severity of obstruction. Lesions vary from small and asymptomatic to large and symptomatic with significant mass effect on surrounding structures. Accurate diagnosis and characterization of these anomalies is crucial for guiding patient counseling as well as perinatal and postnatal management. The goal of this review is to provide an overview of normal fetal lung appearance and imaging features of common and uncommon lesions on both ultrasound and MR imaging, and to discuss key aspects in reporting and evaluating the severity of these lesions.

Background The recommendation for children with papillary thyroid cancer (PTC) is total thyroidectomy (TT) based on the incidence of bilateral disease. Evaluating this assumption, we reviewed the characteristics of bilateral PTC in a large cohort of children. Methods A retrospective chart review for patients surgically treated for PTC from 2009 to 2018 analyzing preoperative risk factors, ultrasound findings, and pathology results was performed. Bilateral disease was defined as pathologic PTC in the contralateral lobe, including microscopic disease. Results Of the 172 patients included, 38.4% had bilateral disease with 23% diagnosed postoperatively. Multifocal disease on ultrasound was associated with bilateral disease (OR 2.9, 95% CI 1.5–5.9, p = 0.002). Nodule dimension > 2 cm was associated with increased risk for postoperative bilateral disease (OR 3.5, 95% CI 1.6–7.4, p = 0.001). Patients with bilateral disease were more likely to have extrathyroidal extension, lymphovascular invasion, positive central lymph nodes, and extranodal extension (p Conclusion Thirty-eight percent of children were diagnosed with PTC demonstrate bilateral disease. Nearly one in four have occult bilateral disease. The features that predicted bilateral disease were multifocality, widely invasive PTC on ultrasound, and the presence of lymphadenopathy. Thus, TT is the appropriate surgical approach for pediatric patients with PTC. Type of Study Clinical Research, Retrospective Review. Level of Evidence Level IV.

BACKGROUND AND OBJECTIVES: The Management of Myelomeningocele Study (MOMS), a randomized trial of prenatal versus postnatal repair for myelomeningocele, found that prenatal surgery resulted in reduced hindbrain herniation and need for shunt diversion at 12 months of age and better motor function at 30 months. In this study, we compared adaptive behavior and other outcomes at school age (5.9–10.3 years) between prenatal versus postnatal surgery groups. METHODS: Follow-up cohort study of 161 children enrolled in MOMS. Assessments included neuropsychological and physical evaluations. Children were evaluated at a MOMS center or at a home visit by trained blinded examiners. RESULTS: The Vineland composite score was not different between surgery groups (89.0 ± 9.6 in the prenatal group versus 87.5 ± 12.0 in the postnatal group; P = .35). Children in the prenatal group walked without orthotics or assistive devices more often (29% vs 11%; P = .06), had higher mean percentage scores on the Functional Rehabilitation Evaluation of Sensori-Neurologic Outcomes (92 ± 9 vs 85 ± 18; P < .001), lower rates of hindbrain herniation (60% vs 87%; P < .001), had fewer shunts placed for hydrocephalus (49% vs 85%; P < .001) and, among those with shunts, fewer shunt revisions (47% vs 70%; P = .02) than those in the postnatal group. Parents of children repaired prenatally reported higher mean quality of life z scores (0.15 ± 0.67 vs 0.11 ± 0.73; P = .008) and lower mean family impact scores (32.5 ± 7.8 vs 37.0 ± 8.9; P = .002). CONCLUSIONS: There was no significant difference between surgery groups in overall adaptive behavior. Long-term benefits of prenatal surgery included improved mobility and independent functioning and fewer surgeries for shunt placement and revision, with no strong evidence of improved cognitive functioning.

Background Genetic alterations in multiple cell signaling pathways are involved in the molecular pathogenesis of thyroid cancer. Oncogene mutation testing and gene-expression profiling are routinely used for the preoperative risk management of adult thyroid nodules. In this study, we evaluated the potential value of miRNA biomarkers for the classification of pediatric thyroid lesions. Procedure Double-blind case-control study with 113 resected pediatric lesions: 66 malignant and 47 benign. Quantitative and qualitative molecular data generated with a 10-miRNA expression panel (ThyraMIR) and a next-generation sequencing oncogene panel (ThyGeNEXT) were compared with clinicopathological parameters. Results miRNAs were differentially expressed in benign versus malignant tumors with distinct expression patterns in different histopathology categories. The 10-miRNA classifier identified 39 (59%) malignant lesions with 100% specificity. A positive classifier score was associated with lymph node metastasis, extrathyroidal extension and intrathyroidal spread. Genetic alterations associated with increased risk for malignancy were detected in 35 (53%) malignant cases, 20 positive for point mutations in BRAF, HRAS, KRAS, NRAS, PIK3CA, or TERT and 15 positive for gene rearrangements involving ALK, NTRK3, PPARG, or RET. The 10-miRNA classifier correctly identified 11 mutation-negative malignant cases. The performance of the combined molecular test was 70% sensitivity and 96% specificity with an area under the curve of 0.924. Conclusions These data suggest that the regulatory miRNA pathways underlying thyroid tumorigenesis are similar in adults and children. miRNA expression can identify malignant lesions with high specificity, augment the diagnostic yield of mutation testing, and improve the molecular classification of pediatric thyroid nodules.

Objectives To describe our experience treating prenatally diagnosed oropharyngeal masses in a novel, multidisciplinary collaboration. To identifying outcomes and risk factors associated with adverse postnatal outcomes. Methods This is a sixty-two patient case series at an academic referral center. Patients with prenatally diagnosed oropharyngeal masses were identified through a programmatic database and confirmed in the electronic health record. Results Sixty-two patient with prenatally diagnosed oropharyngeal mass were identified, with prenatal imaging at our institution confirming this diagnosis in fifty-seven patients, short term outcomes analysis conducted on forty-four patients, and long-term outcomes analysis conducted on seventeen patients. The most common pathology was lymphatic malformations (n = 27, 47.4%), followed by teratomas (n = 22, 38.6%). The median mass volume from all available patient imaging (n = 57) was 60.54 cm3 (range 1.73–742.5 cm3). Thirteen pregnancies were interrupted, six infants expired, and thirteen cases had an unknown fetal outcome. Confirmed mortality was 6/57 patients with imaging-confirmed oropharyngeal masses (10.5%). Fourteen (56%) of the surviving patients (n = 25) were delivered by Ex Utero Intrapartum Treatment (EXIT) procedure and the median NICU stay was thirty-six days (range: 3–215 days). There was no association between airway compression/deviation/displacement, stomach size, polyhydramnios, or mass size and mortality. Seventeen patients had more than one year of follow-up (mean 5.3 ± 2.4 years). These seventeen patients underwent general anesthesia a total of ninety-two times (mean 5.4 ± 4.3) and had a total of twenty-three mass-related surgeries. The great majority of patients required an artificial airway at birth, feeding support, and speech/swallow therapy. Conclusions Oropharyngeal mass involvement of key anatomic structures—the neck, upper thorax, orbit, and ear, has a greater association with mortality than mass size. Regardless of the size and involved structures, oropharyngeal masses are associated with a high burden of intensive medical care and surgical care beginning at or before birth.

Caroli syndrome, which is characterized by saccular and fusiform dilatation of the biliary ducts, is usually observed in association with autosomal recessive polycystic kidney disease (ARPKD). Although the diagnosis of ARPKD is generally easy to make in postnatal ultrasound, the diagnosis of Caroli syndrome may be challenging in prenatal ultrasound. Herein, we present a case of a 29-week fetus with ARPKD associated with Caroli syndrome in whom fetal magnetic resonance imaging was essential to identify the “central dot sign” within the dilated biliary ducts to confirm the prenatal diagnosis of Caroli syndrome and to increase our level of confidence in this diagnosis. Keywords: Fetal MRI, Caroli syndrome, Autosomal recessive polycystic kidney disease