Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia.

BACKGROUND: Pulmonary hypoplasia is the primary cause of perinatal death in lethal skeletal dysplasias. The antenatal ultrasound correlates for lethality are indirect, measuring the thorax (thoracic circumference, TC) or femur compared to the abdomen (TC/AC, FL/AC). A single study has correlated lethality with the observed-to-expected total lung volume (O/E-TFLV) on fetal MRI in 23 patients. OBJECTIVE: Our aim was to define a cutoff value to predict lethality more specifically using MRI-derived O/E-TFLV. MATERIALS AND METHODS: Two large fetal center databases were searched for fetuses with skeletal dysplasia and MRI; O/E-TFLV was calculated. Ultrasound measures were included when available. Each was evaluated as a continuous variable against lethality (stillbirth or death in the first month of life). Logistic regression and receiver operating characteristic (ROC) curve analyses evaluated the prediction ability. AUC, sensitivity, and specificity were calculated. P < 0.05 was considered statistically significant. RESULTS: A total of 80 fetuses met inclusion criteria. O/E-TFLV < 0.49 was a significant risk factor in predicting lethality, with sensitivity and specificity of 0.63 and 0.93, respectively, and an AUC of 0.81 (P < 0.001). FL/AC < 0.129 was also a strong variable with sensitivity, specificity, and AUC of 0.73, 0.88, and 0.78, respectively (P < 0.001). TC/AC and TC percentile were not significant risk factors for lethality. An O/E-TFLV of < 0.38 defines a specificity for lethality at 1.00. CONCLUSION: MRI-derived O/E-TFLV and US-derived FL/AC are significant predictors of lethality in fetuses with skeletal dysplasia. When prognosis is uncertain after ultrasound, calculation of MRI-derived O/E-TFLV may provide additional useful information for prognosis and delivery planning.

Fetoscopic Balloon Dilation and Stent Placement of Congenital High Airway Obstruction Syndrome Leading to Successful Cesarean Delivery.

INTRODUCTION: Without fetal or perinatal intervention, congenital high airway obstruction syndrome (CHAOS) is a fatal anomaly. The ex utero intrapartum treatment (EXIT) procedure has been used to secure the fetal airway and minimize neonatal hypoxia but is associated with increased maternal morbidity. CASE PRESENTATION: A 16-year-old woman (gravida 1, para 0) was referred to our hospital at 31 weeks gestation with fetal anomalies, including echogenic lungs, tracheobronchial dilation, and flattened diaphragms. At 32 weeks, fetoscopic evaluation identified laryngeal stenosis, which was subsequently treated with balloon dilation and stent placement. The patient developed symptomatic and regular preterm contractions at postoperative day 7 with persistent sonographic signs of CHAOS, which prompted a repeat fetoscopy with confirmation of a patent fetal airway followed by Cesarean delivery under neuraxial anesthesia. Attempts to intubate through the tracheal stent were limited and resulted in removal of the stent. A neonatal airway was successfully established with rigid bronchoscopy. Direct laryngoscopy and bronchoscopy confirmed laryngeal stenosis with a small tracheoesophageal fistula immediately inferior to the laryngeal stenosis and significant tracheomalacia. A tracheostomy was then immediately performed for anticipated long-term airway and pulmonary management. The procedures were well tolerated by both mom and baby. The baby demonstrated spontaneous healing of the tracheoesophageal fistula by day of life 7 with discharge home with ventilator support at 3 months of life. CONCLUSION: Use of repeated fetoscopy in order to relieve fetal upper airway obstruction offers the potential to minimize neonatal hypoxia, while concurrently decreasing maternal morbidity by avoiding an EXIT procedure. Use of the tracheal stent in CHAOS requires further investigation. The long-term reconstruction and respiratory support of children with CHAOS remain challenging.

Prenatal Imaging to Predict Need for Urgent Perinatal Surgery in Congenital Lung Lesions.

BACKGROUND: Congenital lung malformations (CLMs) have a variable natural history: some patients require urgent perinatal surgical intervention (UPSI) and others remain asymptomatic. These lesions have potential growth until 26-28 wk gestation. CLM volume ratio (CVR) has been shown to predict the risk of hydrops in CLMs. However, no criteria exist to delineate lesions requiring urgent surgical intervention in the perinatal period. Our goal was to determine prenatal diagnostic features that predict the need for UPSI in patients diagnosed with CLM. METHODS: Records and imaging features of all fetuses evaluated by our fetal center between May 2015 and December 2018 were retrospectively reviewed. Data included demographics, fetal ultrasound and magnetic resonance imaging, CVR, surgical treatment, and outcome. Features were analyzed for their ability to predict the need for UPSI. RESULTS: Sixty-four patients were referred for CLM, with 48 patients serially followed. Nine (18.8%) patients were followed nonoperatively, 35 (72.9%) underwent resection, and four (8.3%) were lost to follow-up. Of the patients who underwent resection, 24 (68.5%) were electively resected and 11 were urgently resected. Five (14.3%) patients underwent ex utero intrapartum treatment resection, and six (17.1%) were urgently resected for symptomatic CLM. There were no cases of UPSI with final CVR <1.1. Of the patients with final CVR 1.1-1.7, 43% required urgent resection. CVR ≥1.1 has 100% sensitivity and 87.8% specificity to predict patients requiring UPSI (area under the curve of 0.98). CONCLUSIONS: A final CVR ≥1.1 is highly predictive for UPSI. Patients with a final CVR ≥1.1 should be referred for delivery at centers with pediatric surgeons equipped for potential UPSI for CLM.

Fetoscopic Open Neural Tube Defect Repair: Development and Refinement of a Two-Port, Carbon Dioxide Insufflation Technique.

OBJECTIVE: To describe development of a two-port fetoscopic technique for spina bifida repair in the exteriorized, carbon dioxide-filled uterus and report early results of two cohorts of patients: the first 15 treated with an iterative technique and the latter 13 with a standardized technique. METHODS: This was a retrospective cohort study (2014-2016). All patients met Management of Myelomeningocele Study selection criteria. The intraoperative approach was iterative in the first 15 patients and was then standardized. Obstetric, maternal, fetal, and early neonatal outcomes were compared. Standard parametric and nonparametric tests were used as appropriate. RESULTS: Data for 28 patients (22 endoscopic only, four hybrid, two abandoned) are reported, but only those with a complete fetoscopic repair were analyzed (iterative technique [n=10] compared with standardized technique [n=12]). Maternal demographics and gestational age (median [range]) at fetal surgery (25.4 [22.9-25.9] compared with 24.8 [24-25.6] weeks) were similar, but delivery occurred at 35.9 (26-39) weeks of gestation with the iterative technique compared with 39 (35.9-40) weeks of gestation with the standardized technique (P<.01). Duration of surgery (267 [107-434] compared with 246 [206-333] minutes), complication rates, preterm prelabor rupture of membranes rates (4/12 [33%] compared with 1/10 [10%]), and vaginal delivery rates (5/12 [42%] compared with 6/10 [60%]) were not statistically different in the iterative and standardized techniques, respectively. In 6 of 12 (50%) compared with 1 of 10 (10%), respectively (P=.07), there was leakage of cerebrospinal fluid from the repair site at birth. Management of Myelomeningocele Study criteria for hydrocephalus-death at discharge were met in 9 of 12 (75%) and 3 of 10 (30%), respectively, and 7 of 12 (58%) compared with 2 of 10 (20%) have been treated for hydrocephalus to date. These latter differences were not statistically significant. CONCLUSION: Fetoscopic open neural tube defect repair does not appear to increase maternal-fetal complications as compared with repair by hysterotomy, allows for vaginal delivery, and may reduce long-term maternal risks. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, https://clinicaltrials.gov, NCT02230072.

Prenatal diagnosis and outcome of fetal gastrointestinal obstruction.

INTRODUCTION: The purpose of this study was to evaluate the accuracy of prenatal diagnosis for fetuses with gastrointestinal (GI) obstruction with correlation to postnatal outcomes. METHODS: Fetuses diagnosed with GI obstruction (excluding esophageal and duodenal) were reviewed for those evaluated between 2006 and 2016. Prenatal diagnosis and imaging studies were compared to postnatal findings. Outcomes evaluated included diagnostic accuracy, rate of other anomalies, neonatal length of stay, incidence of short bowel syndrome, and discharge with TPN or gastrostomy. RESULTS: Forty-eight patients were diagnosed prenatally with obstruction. Six patients were excluded owing to incomplete records and follow-up. Twelve fetuses were diagnosed with ultrasound alone, and thirty-four with ultrasound and MRI. A diagnosis of obstruction was accurate in 88.1% (n=37/42) with a positive predictive value of 91.3%, while US with MRI had an accuracy of 84.4%. Associated anomalies were highest among fetuses with anorectal obstruction (90.1%), compared to large (50%) or small bowel obstruction (28%). Survival rate was lowest for anorectal obstruction (54.5%), compared to large or small bowel obstruction (100% for both). CONCLUSION: Fetal MRI is an accurate modality in the diagnosis of fetal GI obstruction and can complement findings characterized by ultrasound. Fetuses with anorectal obstruction have a higher rate of associated anomalies and the lowest survival. LEVEL OF EVIDENCE: IIb.

Feasibility and Outcomes of Fetoscopic Tracheal Occlusion for Severe Left Diaphragmatic Hernia.

OBJECTIVE: To evaluate feasibility and initial outcomes of fetoscopic tracheal occlusion for severe diaphragmatic hernia compared with a historical cohort who had not received fetal tracheal occlusion. METHODS: Outcomes in a prospective observational cohort who underwent fetoscopic tracheal occlusion for severe fetal left diaphragmatic hernia without associated anomalies were compared with our historical nontreated cohort of matched fetuses of similar severity. Fetuses were classified using the same ultrasonography and magnetic resonance imaging methodology-prospectively in the fetoscopic tracheal occlusion group and retrospectively in the historical nontreated cohort. Obstetric and postnatal outcomes were evaluated and compared. RESULTS: Between January 2004 and June 2015, 218 fetuses with diaphragmatic hernia were evaluated. Twenty (9%) fetuses had severe left diaphragmatic hernia (lung-head ratio 1.0 or less and liver herniation), of which 9 of 20 were managed without tracheal occlusion. Eleven were offered the procedure and in 10, it was successful. Mean (±standard deviation) gestational age was 27.9±1.1 weeks at attempted balloon placement, 34.1±1.1 weeks at removal, and 35.3±2.2 weeks at delivery. One patient required an ex utero intrapartum treatment procedure at delivery to remove the balloon. There were no maternal complications or fetal deaths. All neonates underwent postnatal repair with a patch. The 6-month, 1-year, and 2-year survival rates were significantly higher in our treated cohort than in our nontreated historical cohort (80% compared with 11%, risk difference 69%, 95% confidence interval [CI] 38-100%, P=.01; 70% compared with 11%, risk difference 59%, 95% CI 24-94%, P=.02; and 67% compared with 11%, risk difference 56%, 95% CI 19-93%, P=.04, respectively) with reduced need for extracorporeal membrane oxygenation (30% compared with 70%, risk difference 40%, 95% CI 10-79%, P=.05). CONCLUSION: Fetoscopic tracheal occlusion is feasible and is associated with improved postnatal outcomes in severe left diaphragmatic hernia. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, https://clinicaltrials.gov, NCT00881660.

An evaluation of the role of concomitant anomalies on the outcomes of fetuses with congenital diaphragmatic hernia.

PURPOSE: The purpose of this study was to evaluate the impact of various types of associated anomalies on CDH mortality and morbidity. METHODS: All CDH patients at a tertiary care center from January 2004 to January 2014 were reviewed retrospectively. Isolated CDH was defined as CDH without any associated anomalies. Cardiac anomalies were stratified into minor and major based on the Risk Adjustment for Congenital Heart Surgery-1 (RACHS-1) scoring system. Other anatomic anomalies requiring intervention in the perinatal period were classified as major anomalies. The outcomes of interest were 6-month mortality as well as pulmonary and gastrointestinal morbidity. RESULTS: Of 189 CDH patients, 93 (49%) had isolated CDH. Others had: cardiac anomalies alone (n=47, 25%), genetic anomalies (n=28, 15%), structural anomalies alone (n=18, 10%), and both cardiac and genetic anomalies (n=20, 11%). Fifty (26.5%) patients were dead before six months of age. Mortality rate at 6months was higher in patients with genetic and major cardiac anomalies. A major cardiac anomaly was independently associated with a 102-fold increased risk of mortality at 6months (95%CI: 3.1-3402). Pulmonary morbidity was increased in patients with genetic, major cardiac, and major structural anomalies, while gastrointestinal morbidity was higher in patients with major structural anomalies alone. CONCLUSION: Major cardiac and genetic anomalies were associated with increased 6-month mortality in CDH patients. However, the association with minor cardiac anomalies and/or structural anomalies did not affect mortality and morbidity of CDH patients. The presence of minor anomalies should not adversely impact their perinatal management or consideration for in-utero therapy.

Space occupying lesions in the presence of congenital diaphragmatic hernia.

INTRODUCTION: Previous reports describe lung malformations and other chest lesions in association with congenital diaphragmatic hernia (CDH), yet little is known how these lesions affect outcomes. We sought to evaluate the incidence and outcomes of patients diagnosed with chest lesions in association with CDH. METHODS: The charts of all infants treated for CDH in a single tertiary center from January 2004 to January 2015 were reviewed. The outcomes of those with space occupying lesions (SOLs) in association with CDH were compared to those with isolated CDH. Statistical analysis was performed using Student's t-test and Mann-Whitney U test for continuous variables and Fisher's exact for categorical variables. RESULTS: Of the 214 infants treated, 20 had an associated SOL (4 had>1 lesion). SOLs were confirmed by pathological examination and included: bronchopulmonary sequestration (n=10; 4.7%), ectopic liver (n=9; 4.2%), foregut duplication cyst (n=2; 1%), and other lesions (n=3; 1.4%). No statistical difference was noted in the long-term outcomes of patients with SOL in comparison to those with isolated CDH. CONCLUSION: SOLs are not uncommon in neonates with CDH. Despite theoretical concerns, there is no evidence that SOLs are associated with worse outcomes, a finding which is helpful during prenatal counseling of families.

Risk-stratification of severity for infants with CDH: Prenatal versus postnatal predictors of outcome.

PURPOSE: The purpose of this study was to compare the predication accuracy of a newly described postnatally-based clinical prediction model to fetal imaging-based predictors of mortality for infants with CDH. METHODS: We performed a retrospective review of all CDH patients treated at a comprehensive fetal care center from January 2004 to January 2014. Prenatal data reviewed included lung-to-head ratio (LHR), observed/expected-total fetal lung volume (O/E-TFLV), and percent liver herniation (%LH). Based on the postnatal prediction model, neonates were categorized as low, intermediate, and high risk of death. The primary outcome was 6-month mortality. RESULTS: Of 176 CDH patients, 58 had a major cardiac anomaly, and 28 had a genetic anomaly. Patients with O/E-TFLV <35% and %LH >20% were at increased risk for mortality (44% and 36%, respectively). There was a significant difference in mortality between low, intermediate, and high-risk groups (4% vs. 22% vs. 51%; p<0.001). On multivariate regression, the O/E-TFLV and postnatal-based mortality risk score were the two independent predictors of 6-month mortality. CONCLUSION: The CDH Study Group postnatal predictive model provides good discrimination among three risk groups in our patient cohort. The prenatal MRI-based O/E-TFLV is the strongest prenatal predictor of 6-month mortality in infants with CDH and will help guide prenatal counseling and discussions regarding fetal intervention and perinatal management.

Prenatally diagnosed neck masses: long-term outcomes and quality of life.

PURPOSE: To determine long-term outcomes of fetuses with neck masses (NM), including functional and cosmetic results. METHODS: A retrospective review was performed of all fetuses evaluated for NM from November 2001 to March 2014. Quality of life (QOL) was evaluated using the validated PedsQL™ questionnaire. RESULTS: Of 35 fetuses evaluated, 9 died perinatally and 1 died late from tracheostomy complications. NM ranged from 4 to 20cm (mean, 9.1cm); 18 were delivered by EXIT. Of 25 surviving patients, 22 had mass resection, 7 requiring more than one procedure. Surviving patients with lymphatic malformations (LM) had the highest incidence of moderate and severe disfigurement and a higher rate of persistent/recurrent disease (100% vs. 31%, p=0.002) and cranial nerve dysfunction (50% vs. 0%, p=0.005) compared to those with non-LM diagnoses. Of 9 children attending school, 78% achieve grades of A/B's. QOL for 13 patients revealed a mean score of 83/100 for physical and 78/100 for psychosocial functioning. Median follow-up was 6 years (7 months-17 years). CONCLUSION: Unlike those with teratoma or other lesions, children with congenital cervicofacial LM are at high-risk for persistent disease, nerve dysfunction and moderate-severe disfigurement. There is substantial perinatal morbidity for fetuses with neck masses, but for those surviving, the long-term functional and cognitive outcomes are good.

Are all pulmonary hypoplasias the same? A comparison of pulmonary outcomes in neonates with congenital diaphragmatic hernia, omphalocele and congenital lung malformation.

INTRODUCTION: Patients with congenital diaphragmatic hernias (CDH), omphaloceles, and congenital lung malformations (CLM) may have pulmonary hypoplasia and experience respiratory insufficiency. We hypothesize that given equivalent lung volumes, the degree of respiratory insufficiency will be comparable regardless of the etiology. METHODS: Records of all fetuses with CDH, omphalocele, and CLM between January 2000 and June 2013 were reviewed. MRI-based observed-to-expected total fetal lung volumes (O/E-TFLV) were calculated. An analysis of outcomes in patients with O/E-TFLV between 40% and 60%, the most inclusive range, was performed. RESULTS: 285 patients were evaluated (161, CDH; 24, omphalocele; 100, CLM). Fetuses with CDH had the smallest mean O/E-TFLV. CDH patients were intubated for longer and had a higher incidence of pulmonary hypertension. Fifty-six patients with the three diagnoses had an O/E-TFLV of 40%-60%. The need for ECMO, supplemental oxygen at 30days of life, and 6-month mortality were similar among groups. CDH patients had a significantly longer duration of intubation and higher incidence of pulmonary hypertension than the other two diagnoses. CONCLUSION: Given equivalent lung volumes (40%-60% of expected), CDH patients require more pulmonary support initially than omphalocele and CLM patients. In addition to lung volumes, disease-specific factors, such as pulmonary hypertension in CDH, also contribute to pulmonary morbidity and overall outcome.

Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.

Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, a segmental overgrowth syndrome, is caused by post zygotic somatic mutations in PIK3CA, a gene involved in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway. Prenatal ultrasound findings of lymphovascular malformations, segmental overgrowth and skeletal defects can raise suspicion for CLOVES syndrome, but molecular confirmation of PIK3CA mutations on prenatally obtained samples is challenging because of somatic mosaicism. We detected a mosaic disease-causing mutation in PIK3CA by sequencing of DNA extracted from cultured amniotic cells, but not from DNA directly prepared from an amniotic fluid sample in a fetus with prenatally suspected CLOVES syndrome. The infant was born prematurely and displayed severe lymphovascular malformations and segmental overgrowth consistent with a clinical diagnosis of CLOVES syndrome; he passed away at 29 days of life. We discuss the complexities and limitations of genetic testing for somatic mosaic mutations in the prenatal period and highlight the potential need for multiple approaches to arrive at a molecular diagnosis. © 2014 Wiley Periodicals, Inc.

Fetal MRI lung volumes are predictive of perinatal outcomes in fetuses with congenital lung masses.

PURPOSE: The purpose of this study was to evaluate fetal magnetic resonance imaging (MRI) as a modality for predicting perinatal outcomes and lung-related morbidity in fetuses with congenital lung masses (CLM). METHODS: The records of all patients treated for CLM from 2002 to 2012 were reviewed retrospectively. Fetal MRI-derived lung mass volume ratio (LMVR), observed/expected normal fetal lung volume (O/E-NFLV), and lesion-to-lung volume ratio (LLV) were calculated. Multivariate regression and receiver operating characteristic analyses were applied to determine the predictive accuracy of prenatal imaging. RESULTS: Of 128 fetuses with CLM, 93% (n=118) survived. MRI data were available for 113 fetuses. In early gestation (<26weeks), MRI measurements of LMVR and LLV correlated with risk of fetal hydrops, mortality, and/or need for fetal intervention. In later gestation (>26weeks), LMVR, LLV, and O/E-NFLV correlated with neonatal respiratory distress, intubation, NICU admission and need for neonatal surgery. On multivariate regression, LMVR was the strongest predictor for development of fetal hydrops (OR: 6.97, 1.58-30.84; p=0.01) and neonatal respiratory distress (OR: 12.38, 3.52-43.61; p≤0.001). An LMVR >2.0 predicted worse perinatal outcome with 83% sensitivity and 99% specificity (AUC=0.94; p<0.001). CONCLUSION: Fetal MRI volumetric measurements of lung masses and residual normal lung are predictive of perinatal outcomes in fetuses with CLM. These data may assist in perinatal risk stratification, counseling, and resource utilization.

Prenatal MRI fetal lung volumes and percent liver herniation predict pulmonary morbidity in congenital diaphragmatic hernia (CDH).

PURPOSE: The purpose of this study was to determine whether prenatal imaging parameters are predictive of postnatal CDH-associated pulmonary morbidity. METHODS: The records of all neonates with CDH treated from 2004 to 2012 were reviewed. Patients requiring supplemental oxygen at 30 days of life (DOL) were classified as having chronic lung disease (CLD). Fetal MRI-measured observed/expected total fetal lung volume (O/E-TFLV) and percent liver herniation (%LH) were recorded. Receiver operating characteristic (ROC) curves and multivariate regression were applied to assess the prognostic value of O/E-TFLV and %LH for development of CLD. RESULTS: Of 172 neonates with CDH, 108 had fetal MRIs, and survival was 76%. 82% (89/108) were alive at DOL 30, 46 (52%) of whom had CLD. Neonates with CLD had lower mean O/E-TFLV (30 vs.42%; p=0.001) and higher %LH (21.3±2.8 vs.7.1±1.8%; p<0.001) compared to neonates without CLD. Using ROC analysis, the best cutoffs in predicting CLD were an O/E-TFLV<35% (AUC=0.74; p<0.001) and %LH>20% (AUC=0.78; p<0.001). On logistic regression, O/E-TFLV<35% and a %LH>20% were highly associated with indicators of long-term pulmonary sequelae. On multivariate analysis, %LH was the strongest predictor of CLD in patients with CDH (OR: 10.96, 95%CI: 2.5-48.9, p=0.002). CONCLUSION: Prenatal measurement of O/E-TFLV and %LH is predictive of CDH pulmonary morbidity and can aid in establishing parental expectations of postnatal outcomes.

Mainstem bronchial atresia: a lethal anomaly amenable to fetal surgical treatment.

PURPOSE: The purpose of this study was to review the unique imaging characteristics, prenatal course, and outcomes for fetuses with mainstem bronchial atresia (MBA). METHODS: The records of all patients referred for a fetal lung malformation from 2001 to 2012 and the medical literature were reviewed to identify cases of MBA. RESULTS: Of 129 fetuses evaluated, 3 were diagnosed prenatally with right-sided MBA. The first had a CCAM-volume ratio (CVR) of 9, hydrops, mirror syndrome, and preterm delivery of a nonviable fetus. The second (CVR 2.6) had ascites, preterm delivery at 34-weeks, and neonatal demise. The third fetus (CVR 5.7) presented with hydrops at 21-weeks, prompting fetal pneumonectomy. Postoperatively, hydrops resolved, and the contralateral lung grew dramatically, but preterm delivery occurred 3 weeks later. Ventilation could not be sustained, and the infant died. Four similar cases of MBA were in the literature, all right-sided. Two fetuses with hydrops delivered at 25-weeks and died immediately. One pregnancy was terminated. One fetus underwent pneumonectomy at 24-weeks but died intraoperatively. CONCLUSION: MBA is a rare and lethal lesion that must be distinguished from other right-sided lung masses. Fetal pneumonectomy can be performed with resolution of hydrops and compensatory contralateral lung growth, but remains limited by complications of preterm birth.

Fetal MRI improves diagnostic accuracy in patients referred to a fetal center for suspected esophageal atresia.

PURPOSE: The purpose of this study was to describe prenatal imaging characteristics and outcomes of fetuses with suspected esophageal atresia (EA) in order to improve prenatal diagnosis, counseling, and management. METHODS: The medical records of all patients referred to our multidisciplinary fetal center for suspected EA from January 2003 to April 2013 were reviewed retrospectively. RESULTS: Thirty-three patients were referred with a prenatal diagnosis of possible EA. Following fetal center evaluation with MRI, EA was deemed unlikely in 6 (18%) fetuses. Of 27 fetuses in whom EA could not be excluded, EA was confirmed postnatally in 15 (56%), excluded in 7 (26%), and unconfirmed in 5 (3 fetal losses; 2 lost to follow-up). Imaging characteristics on fetal MRI associated with the highest positive predictive values (PPV) were an esophageal pouch (100%) and a small stomach (75%). The finding of polyhydramnios had high sensitivity (93%) but low specificity (31%) and PPV (61%) for a diagnosis of EA. CONCLUSION: Prenatal imaging and fetal center evaluation correctly identify the presence or absence of esophageal atresia in 78% of patients referred on suspicion of this condition. The presence of an esophageal pouch on fetal MRI has significant predictive value for EA. These data may assist with evidence-based prenatal family counseling.

Intussusception revisited: is immediate on-site surgeon availability at the time of reduction necessary?

OBJECTIVE: The American College of Radiology recommends that fluoroscopically guided intussusception reduction be performed with a surgeon readily available. At many institutions, this may not be feasible. The purpose of this study was to assess the utilization of immediate surgical services at the time of radiologic intussusception reduction. MATERIALS AND METHODS: All radiologic intussusception reductions at a tertiary care children's hospital from November 2007 through August 2012 were reviewed to determine method, complications, clinical status of the child, and time between unsuccessful reduction and operative intervention. RESULTS: Among 433 patients with intussusception referred for fluoroscopic reduction, 86.1% (n = 373) had successful reductions, and 13.9% (n = 60) had unsuccessful reductions. Five perforations represented 8.3% (5/60) of the unsuccessful and 1.2% (5/433) of the total reduction attempts. Six patients' conditions became hemodynamically unstable during attempted reduction (four perforations, two unsuccessful reductions without perforation), representing 10% (6/60) of unsuccessful and 1.4% (6/433) of total reduction attempts. Percutaneous needle decompression and cardiopulmonary resuscitation restored hemodynamic stability in all cases. The mean time to surgery after perforation was 1.3 hours, after unsuccessful reduction complicated by hemodynamic instability was 2.2 hours, and after unsuccessful radiologic reduction without complication was 4.3 hours. CONCLUSION: In this series, complications requiring immediate medical or surgical attention were rare, occurring in 1.6% of cases (five bowel perforations, two cases of hemodynamic instability without perforation). On-site surgeon presence may not be necessary at the time of radiologically guided reduction attempts provided that the attending physician is facile with percutaneous needle decompression and management of hemodynamic instability and that ultimate surgical care can be arranged expeditiously.

The presence of a hernia sac in congenital diaphragmatic hernia is associated with better fetal lung growth and outcomes.

PURPOSE: The purpose of this study was to evaluate the relationship between the presence of a hernia sac and fetal lung growth and outcomes in infants with Congenital, Diaphragmatic Hernia (CDH). METHODS: The medical records of all neonates with CDH treated in our institution between 2004 and 2011 were reviewed. The presence of a hernia sac was confirmed at the time of surgical repair or at autopsy. Data were analyzed using parametric and non-parametric tests where appropriate. Multivariable regression and survival analyses were applied. RESULTS: Of 148 neonates treated for CDH, 107 (72%) had isolated CDH and 30 (20%) had a hernia sac. Infants with a hernia sac had significantly lower need for ECMO, patch repair, supplemental oxygen at 30 days of life, and shorter duration of mechanical ventilation and hospital stay. Ninety-three patients had prenatal imaging. The mean observed-to-expected total fetal lung volume in the sac group was higher throughout gestation. Although a greater percentage of sac patients had liver herniation as a dichotomous variable, the amount of herniated liver (%LH and LiTR) was significantly lower in the presence of a hernia sac. CONCLUSION: The presence of a hernia sac in Congenital Diaphragmatic Hernia is associated with less visceral herniation, greater fetal lung growth, and better post-natal outcomes.

Outcomes of fetuses with lower urinary tract obstruction treated with vesicoamniotic shunt: a single-institution experience.

PURPOSE: The purpose of this manuscript was to examine the outcomes of patients with lower urinary tract obstruction (LUTO) treated with vesicoamniotic shunt (VAS) to improve the quality of prenatal consultation and therapy. METHODS: The medical records of all patients diagnosed with LUTO at our center between January 2004 and March 2012 were reviewed retrospectively. RESULTS: Of 14 male fetuses with LUTO, all with characteristic ultrasound findings, 11 underwent intervention. One patient received vesicocentesis alone, while 10 had VAS. Two fetuses additionally underwent cystoscopy (one with attempted valve ablation), and two had peritoneoamniotic shunts. Of 16 total VAS, 13 were placed successfully, 8 dislodged (median 7 days), and 1 obstructed (84 days). Two fetuses suffered in utero demise, and two have unknown outcomes. LUTO was confirmed in six of eight live-born fetuses. One patient died in the neonatal period, while seven survived. All six available at follow-up (median 3.7 years), had significant genitourinary morbidity. Five patients had chronic kidney disease, but only one has required dialysis and transplant. Three had respiratory insufficiency, and one required a tracheostomy. CONCLUSION: Despite significant perinatal and long-term morbidity, VAS offers patients faced with a poor prognosis an improved chance of survival. Our results underscore the need for further research into the diagnosis and treatment of LUTO.

EXIT-to-resection for fetuses with large lung masses and persistent mediastinal compression near birth.

PURPOSE: To identify prenatal diagnostic features that will help select fetuses with lung masses (LM) who may benefit from ex-utero intrapartum treatment (EXIT procedure) as the preferred mode of delivery. METHODS: The CCAM-volume ratio (CVR), fetal treatment, and outcomes of all fetuses with LM evaluated between 2001 and 2011 were reviewed retrospectively. Fetuses with hydrops or CVR>1.6 were classified as high risk. Indications for fetal interventions included hydrops and heart failure, and indication for EXIT-to-resection was the finding of persistent mediastinal compression (PMC) near birth. RESULTS: Of 110 fetuses evaluated for LM, 78 were classified as low-risk. No fetus in this group had PMC near birth and none required perinatal treatment. Of 32 high-risk fetuses, 8 developed heart failure of which 4 survived (3 following fetal surgery). Nine high-risk fetuses with no PMC near birth were asymptomatic postnatally and treated electively. Sixteen high-risk fetuses had PMC near birth. All 9 babies with PMC treated with EXIT-to-resection did well with discharge at a median of 10 days post-operatively. All 7 fetuses treated without an EXIT developed respiratory distress following birth requiring an urgent operation; 2 died. CONCLUSION: The EXIT-to-resection procedure is a favorable delivery approach for those fetuses with large LM and PMC near birth.