Spontaneous breathing in selected neonates with very mild congenital diaphragmatic hernia.

AIMS: Current treatment guidelines recommend immediate postnatal intubation in all neonates with congenital diaphragmatic hernia (CDH). This study aimed to investigate the feasibility and outcomes of a spontaneous breathing approach (SBA) versus immediate intubation in neonates with prenatally diagnosed very mild CDH. METHODS: A retrospective study was conducted comparing neonates with very mild CDH (left-sided, liver-down, observed-to-expected lung-to-head ratio ≥45%) undergoing SBA and matched controls receiving standard treatment. Data on early echocardiographic findings, respiratory support, length of hospital stay, and clinical outcomes were analyzed. RESULTS: Of 151 CDH neonates, eight underwent SBA, while 31 received standard treatment. SBA was successful in six of eight patients. SBA patients had shorter length of stay (14 vs. 30 days, p = .005), mechanical ventilation (3.5 vs. 8.7 days, p = .011), and oxygen supplementation (3.2 vs. 9.3 days, p = .013) compared to matched controls. Echocardiographic evidence of pulmonary hypertension and cardiac dysfunction were significantly lower in SBA neonates after admission but similar before surgical repair. The SBA group tolerated enteral feeding earlier (day of life 7 vs. 16, p = .019). CONCLUSIONS: SBA appears feasible and beneficial for prenatally diagnosed very mild CDH. It was associated with a shortened hospital stay supportive therapies. However, larger trials are needed to confirm these findings and determine optimal respiratory support.

A comparative analysis of the Vasoactive-Inotropic Score, the Vasoactive-Ventilation-Renal Score, and the Oxygenation Index as outcome predictors in infants with a congenital diaphragmatic hernia.

OBJECTIVES: To date, different severity scores and indices are available to predict outcome in infants with a congenital diaphragmatic hernia (CDH). The Oxygenation Index (OI) and the Vasoactive-Inotropic Score (VIS) has already been evaluated in the CDH population. The Vasoactive-Ventilation-Renal (VVR) Score was recently evaluated as new severity score in several studies on infants with need for cardiac surgery. The score was shown to outperform the VIS and OI as outcome predictors in these infants, but no data are available regarding the evaluation of the VVR Score in CDH infants. PATIENTS AND METHODS: This was a retrospective single-center analysis at the University Children's Hospital, Bonn, Germany, during the study period from January 2019 until December 2022. Of 108 CDH infants treated at our institution, a final cohort of 100 neonates met the inclusion criteria. INCLUSION CRITERIA: diagnosis of CDH (right-sided, left-sided, or bilateral). EXCLUSION CRITERIA: early mortality (before surgical correction of the diaphragm), palliative care after birth, no available data for OI, VIS, and VVR Score calculation. The OI, the VIS, and the VVR Score were calculated at three selected timepoints: at 48-72 h after birth (T1), before surgery (T2), and after surgery (T3). MAIN RESULTS: The primary clinical endpoint (in-hospital mortality) was reached in 21% of the infants. Infants surviving to discharge were allocated to group A, infants with fatal outcome to group B. In the univariate analysis, the OI was significantly higher in infants allocated to group B at T2 (p < .001), and T3 (p < .001). The VIS was significantly higher only at T1 in infants allocated to group B (p = .001). The VVR Score was significantly higher at T1 (p = .017), and at T3 (p = .002) in infants not surviving to discharge. In the multivariate analysis, the OI at T2 + T3 (p < .001), the VIS at T1 (p = .048), and the VVR Score at T1 + T3 (p = .023, and p = .048, respectively) remained significantly associated with in-hospital mortality. The OI presented the highest area under the curve (AUC) at T2 and T3 (T2:0.867, p = .001; T3:0.833, p = .000) regarding the primary endpoint in the overall cohort. In the subgroup of infants without need for extracorporeal membrane oxygenation (ECMO) therapy (n = 60) the VVR Sore presented the best performance with an AUC of 0.942 (p = .000) at T3. CONCLUSION: The severity scores OI, VIS, and VVR-Score are independent predictors of in-hospital mortality in CDH infants. The OI seems to outperform the VIS and VVR-Score as outcome predictor immediately before and after CDH surgery, whereas the VVR Score presented the best performance in the subgroup of CDH infants without need for ECMO and mild-to-moderate CDH defects.

[Characteristics and Outcome of Neonates With Postnatally Diagnosed Congenital Diaphragmatic Hernia]. / Charakteristika und Outcomedaten von Neugeborenen mit pränatal nicht diagnostizierter angeborener Zwerchfellhernie.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) is one of the most severe neonatal malformations with a mortality of 20-35%. Currently, the rate of prenatally recognized CDHs is 60-80%. This study investigated the characteristics and outcome data of children with prenatally unrecognized CDH. METHODS: Postnatally diagnosed CDH newborns treated at the University Hospital Bonn between 2012 and 2021 were included. Treatment and outcome data were compared according to type of maternity hospital, Apgar values, and between prenatally and postnatally diagnosed CDH. RESULTS: Of 244 CDH newborns, 22 were included. Comparison for birth in a facility with vs. without pediatric care showed for mortality: 9% vs. 27%, p=0.478; ECMO rate: 9% vs. 36%, p=0.300; age at diagnosis: 84 vs. 129 min, p=0.049; time between intubation and diagnosis: 20 vs. 86 min, p=0.019. Newborns in the second group showed significantly worse values for pH and pCO2. Furthermore, there was a tendency for higher mortality and ECMO rates in children with an Apgar score<7 vs.≥7. Children diagnosed postnatally were significantly more likely to have moderate or severe PH and tended to have cardiac dysfunction more often than those diagnosed prenatally. DISCUSSION: In our cohort, ca. one in 10 newborns received a postnatal CDH diagnosis. Birth in a facility without pediatric care is associated with later diagnosis, which may favor hypercapnia/acidosis and more severe pulm.

[Influencing factors on operating times for metal bar removal after Nuss repair]. / Einflussfaktoren der Schnitt-Naht-Zeiten der Metallentfernung nach Nuss-Operation.

BACKGROUND: Metal bar removal after the Nuss repair procedure is prone to be cancelled in cases of operating time shortages due it being suitable to be postponed without harming patients. Consequently, planning operation times as exactly as possible could be one solution. OBJECTIVE: Statistical modelling of operation times of metal bar removal after Nuss repair using the prespecified independent predictors of age, sex, intraoperative complications, and number of implanted metal bars. MATERIAL AND METHODS: We included all patients whose operation notes included an operation time, which was modelled via linear regression and subject to internal validation via bootstrap. Exploratory analyses also consisted of the surgeon's experience, the number of stabilizers, the body mass index, and preceding re-do surgery for bar dislocation. RESULTS: We included 265 patients (14% ♀) with a median age of 19 years (interquartile range 17-20 years), of whom 81% had 1 and 17% had 2 metal bars removed. The prespecified regression model was statistically significant (likelihood ratio 56; df = 5; P < 0.001) and had a bias corrected R2 of 0.148. Patient age influenced operation times by 2.1min per year of life (95% confidence interval 1.3-2.9min; P < 0.001) and 16min per explanted metal bar (95% confidence interval: 10-22min; P < 0.001). CONCLUSION: The patient-specific factors of age and the number of explanted metal bars influenced the operation times and can be included into scheduling operation times.

Paediatric Pilonidal Sinus Disease: Early Recurrences Irrespective of the Treatment Approaches in a Retrospective Multi-centric Analysis.

BACKGROUND: Incidences of pilonidal sinus disease are rising. Guidelines rarely consider children and adolescents and evidence for their treatment is rare. The literature is divided on the choice of the preferable surgical procedure. Therefore, we aimed to assess recurrences and complications following different treatment approaches in our multi-centric cohort. METHODS: We retrospectively assessed all patients treated for pilonidal sinus disease in the paediatric surgical departments of Bonn and Mainz between 01/01/2009 and 31/12/2020. Recurrences were defined according to the German national guidelines. The pre-specified analysis via logistic regression included the operative approach, age, sex, use of methylene blue, and obesity as independent predictors. RESULTS: We included 213 patients, of which 13.6% experienced complications and 16% a recurrence. Median time to recurrence was 5.8 months (95% confidence interval: 4.2-10.3), which was slightly higher in children than adolescents (10.3 months, 95% confidence interval: 5.3-16.2 vs. 5.5 months, 95% confidence interval: 3.7-9.7). None of the investigated procedures, excision and primary closure, excision and open wound treatment, pit picking, and flap procedures had a decisive advantage in terms of complications or recurrence. Of the independent predictors, only obesity was associated to complications (adjusted odds ratio: 2.86, 95% confidence interval: 1.05-7.79, P = 0.04). CONCLUSIONS: We did not find a difference between the investigated procedures, but our analysis is limited by the small sample size in some subgroups. Our data corroborates that recurrences in paediatric pilonidal sinus disease occur early. Factors linked to these differences remain unknown.

Epigastric hernias in children and the use of ultrasound in its diagnosis.

Introduction: There is a paucity of clinical data on pediatric epigastric hernias despite them accounting for up to 6% of all hernia repairs in children. We aimed to provide additional data to supplement those 117 cases of a recent systematic review and to further clarify the role of ultrasound in diagnosing pediatric epigastric hernia. Methods: We retrospectively included all 60 patients treated for epigastric hernias in children in two tertiary pediatric surgical departments within 12 years. Associations were tested via point-biserial correlation analyses. Results: Epigastric hernias primarily affected preschool children with a median age of 39 months. The vast majority of patients (88%) presented with swelling that was occasionally (30%) accompanied by pain. Fascial defects could be found during clinical examination in 45% of patients with a median size of 5 mm (95% CI 3 to 10). Smaller defects were less likely to be palpable (r=-0.44, 95% CI -0.08 to -0.7, p=0.021). Likewise, ultrasound was used more frequently with smaller fascial defect sizes (r=-0.51, 95% CI -0.16 to -0.74, p=0.007). Laparoscopic repair was used in 11 patients (19%) and more often (4/11) in combination with another simultaneous procedure than open repair (11/48). Conclusions: Epigastric hernias are primarily a condition of the preschool child. Ultrasound can be beneficial if the diagnosis cannot be made clinically; otherwise, it is abdicable if it does not change the management of the patient's epigastric hernia. Laparoscopic repairs might be beneficial for children with multiple defects or simultaneous procedures.

Changes in Pulmonary Functions of Adolescents with Pectus Excavatum Throughout the Nuss Procedure.

BACKGROUND: We aimed to determine the longitudinal changes in pulmonary functions of adolescents with Pectus Excavatum who underwent the Nuss procedure, the minimally invasive repair of pectus excavatum (MIRPE). METHODS: Lung function measurements were performed before bar implantation (T0), at least six weeks to ten months after implantation (T1a), at least eleven months to sixty-one months after bar implantation (T1b) and at least two weeks after bar explantation (T2). RESULTS: Data of 114 patients (83.3% male) whose median age at implantation was 15.6 years and at explantation 18.7 years were analyzed. Shortly after implantation at T1a a significant decline of vital capacity (VC; n = 82), forced vital capacity (FVC; n = 78) and forced expiratory volume in 1 second (FEV1; n = 80) compared to T0 was seen. At T1b a significant decline for the residual volume (RV; n = 83), the residual volume/total lung capacity ratio (RV/TLC; n = 81), the total specific airway resistance (sRaw; n = 80) and the total airway resistance (Raw; n = 84) also compared to T0 was measured. In the comparison of T1b to T2 a significant increase of VC, FVC (n = 67), FEV1 (n = 69), TLC (n = 67) and a significant decrease of Raw (n = 66), sRaw, RV (n = 65) and the RV/TLC (n = 64) ratio could be observed. In the direct analysis between T0 and T2, after the explantation of the bar a significant increase in VC (n = 54), FVC (n = 52), and TLC (n = 55) and a significant decrease of RV (n = 51) and the RV/TLC index (n = 50), and in airway resistance parameters like Raw (n = 52) and sRaw (n = 51) could be detected. CONCLUSIONS: Lung function values along with markers of airway resistance improve in patients after the complete procedure of MIRPE. LEVEL OF EVIDENCE: Level II.

Complications following metal bar removal after Nuss repair are rare in a duocentric retrospective evaluation.

PURPOSE: Minimally invasive pectus excavatum repair has gained widespread acceptance and its results and complications are well-described. However, there is a substantial debate on the risks and frequencies of complications following metal bar removal. We, therefore, aimed to analyse all complications that occurred during and after metal bar removal at our two paediatric surgical centres. METHODS: Bar removal surgeries were identified via procedural codes and electronic records were reviewed using a pre-specified data extraction chart. Both intra- and postoperative complications were included and the latter scored according to Clavien-Dindo. We analysed the influence of the pre-specified potential predictors age, sex, and the number of implanted metal bars on the occurrence of complications using logistic regression. RESULTS: We included 279 patients with a median age of 19 years (interquartile range 17-20 years). 15 patients experienced 17 complications. Of 11 postoperative complications, only an enlarging pleural effusion required a chest drain in local anaesthesia, resulting in a Claven-Dindo grade IIIa, whereas the remainder were classified as grade I. Neither age (adjusted odds ratio (aOR) 0.97, 95% confidence interval (CI) 0.84-1.13, P = 0.73), nor sex (aOR 0.88, 95% CI 0.19-4.07, P = 0.87) or the number of bars (aOR 0.64, 95% CI 0.15-2.71, P = 0.547) did influence the occurrence of complications. CONCLUSION: Complications following metal bar removal were scarce in our duocentric retrospective series and usually of minor relevance. However, to address the perceived paucity of data on the frequency and severity of complications following metal bar removal, further studies, including large database research is necessary.

Management of esophageal perforations in infants by endoscopic vacuum therapy: a single center case series.

BACKGROUND: Endoscopic vacuum therapy (EVT) has become a standard treatment method for esophageal perforations in adults. However, experience with EVT in infants is scarce. In this retrospective case series, we report on four very young infants who were successfully treated with EVT for esophageal perforations of different etiology. METHODS: Four infants were diagnosed with esophageal perforations on day 7, 32, 35 and 159 of life, respectively. The youngest one was prematurely born in the 31st week of pregnancy weighing 980 g only. Three infants had perforations due to foreign body insertion (nasogastric tube or pulling through of percutaneous endoscopic gastrostomy (PEG) tube through the esophagus). One child had an anastomotic dehiscence after Foker's surgery for atresia. In three children EVT was applied as first-line therapy for perforation, in one child EVT was a rescue therapy due to persisting leakage after surgical closure involving thoracotomy. Depending on the esophageal diameter, either an open-pore drainage film or polyurethane sponge was attached to a single-lumen 8 Fr suction catheter, endoscopically (or fluoroscopically by wire-guidance) placed into the esophagus (intraluminal EVT) and supplied with continuous negative pressure (ranging between 75 and 150 mmHg). The EVT system was exchanged twice per week. RESULTS: Complete closure of the perforation/leakage could be achieved in all four infants (100%) after 22 days of continuous EVT (median value; range 7-39) and 4.5 EVT exchanges (median value; range 1-12). No serious adverse events occurred. CONCLUSIONS: EVT is an effective and safe addition to our therapeutic armamentarium in the management of esophageal perforations irrespective of its etiology. Here we prove the feasibility of EVT even in very young infants. The use of an extra thin vacuum open-pore drainage film is helpful to cope with the small esophageal diameter. EVT settings and exchange rates similar to those known from adult treatment were used.

Echocardiographic Assessment of Pulmonary Hypertension in Neonates with Congenital Diaphragmatic Hernia Using Pulmonary Artery Flow Characteristics.

Background: Assessment of pulmonary hypertension (PH) is essential in neonates with congenital diaphragmatic hernia (CDH). Echocardiography is widely established to quantify PH severity, but currently used parameters have inherent limitations. The aim of our study was to investigate the prognostic utility of the index of the pulmonary artery acceleration time to the right ventricular ejection time (PAAT:ET) in CDH neonates assessed using echocardiography. Methods: PAAT:ET values were prospectively measured in CDH neonates on admission, on day of life (DOL) 2 and DOL 5−7. Optimal cut-off values to predict mortality and need for ECMO were calculated and PAAT:ET values were compared between non-ECMO survivors, ECMO-survivors, and ECMO-non-survivors. Results: 87 CDH neonates were enrolled and 39 patients required ECMO therapy. At baseline, PAAT:ET values were significantly lower in ECMO patients compared to non-ECMO patients (p < 0.001). ECMO survivors and ECMO non-survivors had similar values at baseline (p = 0.967) and DOL 2 (p = 0.124) but significantly higher values at DOL 5−7 (p = 0.003). Optimal PAAT:ET cut-off for predicting ECMO was 0.290 at baseline and 0.310 for predicting non-survival in patients on ECMO at DOL 5−7. Conclusion: PAAT:ET is a feasible parameter for early risk assessment in CDH neonates.

Inguinal hernia repair in inpatient children: a nationwide analysis of German administrative data.

BACKGROUND: Contrary to adult inguinal hernia surgery, large-scale investigations using registries or administrative data are missing in paediatric surgery. We aimed to fill this gap by analysing German administrative hospital data to describe the current reality of inpatient hernia surgery in children. METHODS: We analysed aggregated data files bought from the German federals statistics office on hospital reimbursement data separately for principal diagnoses of inguinal hernia in children and for herniotomies in inpatients. Developments over time were assessed via regression and differences between groups with nonparametric comparisons. RESULTS: Principal diagnoses of hernias were decreasing over time with the exception of male bilateral and female bilateral incarcerated hernias in the first year of life which increased. The vast majority of operations were conducted via the open approach and laparoscopy was increasingly only used for females older than 1 year of age. Recurrent hernia repair was scarce. Rates of inguinal hernia repair were higher in both sexes the younger the patient was, but were also decreasing in all age groups despite a population growth since 2012. The amount of inguinal hernia repairs by paediatric surgeons compared to adult surgeons increased by 1.5% per year. CONCLUSIONS: Our results corroborate previous findings of age and sex distribution. It demonstrates that inpatient hernia repair is primarily open surgery with herniorrhaphy and that recurrences seem to be rare. We observed decreasing rates of hernia repairs over time and as this has been described before in England, future studies should try to elucidate this development. LEVEL OF EVIDENCE: III.

Parental risk factors for congenital diaphragmatic hernia - a large German case-control study.

BACKGROUND: Evidence for periconceptional or prenatal environmental risk factors for the development of congenital diaphragmatic hernia (CDH) is still scarce. Here, in a case-control study we investigated potential environmental risk factors in 199 CDH patients compared to 597 healthy control newborns. METHODS: The following data was collected: time of conception and birth, maternal BMI, parental risk factors such as smoking, alcohol or drug intake, use of hairspray, contact to animals and parental chronic diseases. CDH patients were born between 2001 and 2019, all healthy control newborns were born in 2011. Patients and control newborns were matched in the ratio of three to one. RESULTS: Presence of CDH was significantly associated with maternal periconceptional alcohol intake (odds ratio = 1.639, 95% confidence interval 1.101-2.440, p = 0.015) and maternal periconceptional use of hairspray (odds ratio = 2.072, 95% confidence interval 1.330-3.229, p = 0.001). CONCLUSION: Our study suggests an association between CDH and periconceptional maternal alcohol intake and periconceptional maternal use of hairspray. Besides the identification of novel and confirmation of previously described parental risk factors, our study underlines the multifactorial background of isolated CDH.

Extravasation Injuries of the Limbs in Neonates and Children­Development of a Treatment Algorithm

BACKGROUND: Children and neonates very often receive intravenous therapy. There is a lack of systematic data on the incidence of extravasation injuries in children and neonates. Individual studies involving neonates receiving intravenous therapy on intensive care units report incidence rates of 18-46%. Serious complications, such as necrosis and ulceration, develop in 2.4-4% of cases, which in the long term can lead to contractures, deformities, and loss of limb function secondary to unfavorable scar formation. There are no guidelines available to date on the management of pediatric extravasation injuries. METHODS: The present review article is based on a selective search of the literature in PubMed (for the period 1979 until June 2020) and our own clinical experience. RESULTS: There is a lack of randomized controlled studies on the management of pediatric extravasation injuries, so the level of evidence remains restricted to small comparative studies and case series. Conservative, pharmacological or surgical forms of treatment are used, depending on the volume and type of extravasated fluid as well as patient-specific factors. Firstly, an assessment is made as to whether the extravasated fluid is a substance with no primary toxic properties, a tissue irritating (irritant), or a necrosis-inducing (vesicant) substance. Skin and tissue should be examined for damage, skin color, swelling, capillary refill time, and pulse (distal to the injury). Depending on the substance and volume of the extravasated fluid and the degree of tissue damage, treatment options include conservative forms of treatment, administration of antidotes, hyaluronidase or vasodilators (such as phentolamine), the multiple puncture procedure, flushouts, and liposuction. CONCLUSION: Without evidence for the superiority of any particular treatment, therapy remains an individual decision, carrying the risks associated with off-label use.

Fetal teratomas - A retrospective observational single-center study.

OBJECTIVE: Evaluation of course and outcome of pregnancies with prenatally diagnosed fetal teratomas of various locations in a single center between 2002 and 2019. METHODS: Retrospective observational single-center study including prenatally suspected or diagnosed fetal teratomas. Focus was put on ultrasound findings during pregnancy. Complications, need for intervention and outcomes were compared according to tumor location. RESULTS: 79 cases of fetal teratomas were seen at our center between 2002 and 2019. Most frequent tumor locations were the sacrococcygeal region (59.5%), neck (20.2%) and oropharynx (7.6%). Complications mainly included polyhydramnios and cardiac compromise. Need for intervention during pregnancy was significantly higher in pericardial teratomas. Preterm birth before 37 and early preterm birth before 32 weeks occurred in 72.7% and 29.1%, respectively. Major causes of perinatal death were tumor bleeding in sacrococcygeal teratomas (SCTs) and respiratory failure in cervical and oropharyngeal teratomas. CONCLUSION: There is a high need for intervention in pregnancies complicated by fetal teratomas. Pericardiocentesis in pericardial teratomas is often inevitable to reduce the risk of intrauterine demise. Amniotic fluid drainage in associated severe polyhydramnios helps to reduce the risk of preterm birth, a major cause of additional morbidity and mortality. MRI in supplement to prenatal ultrasound is useful in fetal teratomas of the neck and oropharynx in order to plan delivery.

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.

INTRODUCTION: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. METHODS: To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we performed targeted analysis of mouse transcriptome data of esophageal tissue obtained at the embryonic day (E) E8.5, E12.5, and postnatal. RESULTS: In total we prioritized 14 novel de novo variants in 14 different genes (APOL2, EEF1D, CHD7, FANCB, GGT6, KIAA0556, NFX1, NPR2, PIGC, SLC5A2, TANC2, TRPS1, UBA3, and ZFHX3) and eight rare de novo variants in eight additional genes (CELSR1, CLP1, GPR133, HPS3, MTA3, PLEC, STAB1, and PPIP5K2). Through personal communication during the project, we identified an additional EA/TEF case-parent trio with a rare de novo variant in ZFHX3. In silico prediction analysis of the identified variants and comparative analysis of mouse transcriptome data of esophageal tissue obtained at E8.5, E12.5, and postnatal prioritized CHD7, TRPS1, and ZFHX3 as EA/TEF candidate genes. Re-sequencing of ZFHX3 in additional 192 EA/TEF patients did not identify further putative EA/TEF-associated variants. CONCLUSION: Our study suggests that rare mutational de novo events in genes involved in foregut development contribute to the development of EA/TEF.

Prediction of ECMO and Mortality in Neonates with Congenital Diaphragmatic Hernia Using the SNAP-II Score.

BACKGROUND: The mortality of neonates with congenital diaphragmatic hernia (CDH) ranges between 20 and 40% even in specialized high-volume centers. The Score for Neonatal Acute Physiology-II (SNAP-II Score) could facilitate the decision about supportive therapies in CDH newborns. METHODS: The SNAP-II score consists of the variables arterial blood pressure, pH, PaO2:FiO2, body temperature, diuresis, and seizure activity and was calculated at an age of 12 h. RESULTS: 101 CDH newborns treated in our institution between 2009 and 2017 were included in the study. A SNAP-II score ≥ 28 was calculated as cutoff for predicting mortality (AUC 0.876; 95% CI: 0.795-0.957). The mortality rate was 52.9% with a SNAP-II score ≥ 28, and 5.9% with a SNAP-II score<28. Sensitivity and specificity for predicting mortality was 81.8 and 79.7%, the negative predicting value (NPV) was 94.0%, the positive predicting value (PPV) 52.9%. The optimal cutoff for predicting ECMO was ≥ 22 (AUC 0.895; 95% CI: 0.836-0.954). Sensitivity and specificity for predicting ECMO therapy was 90.7, and 63.8%, the NPV was 90.2%, and the PPV was 65% respectively. The SNAP-II score was independently associated with mortality [OR 1.126 (95% CI: 1.050-1.207)] and the need for ECMO therapy [OR 1.243 (95% CI: 1.106-1.397)]. CONCLUSION: The SNAP-II score is strongly associated with mortality and the need for ECMO therapy in CDH newborns and should be implemented in the risk stratification of these infants.

Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup.

BACKGROUND: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) represents the most common developmental malformation of the upper digestive tract. It is classified into six subtypes according to the classification of Vogt, depending on anatomical variation of this malformation. Around 50% of the patients with EA/TEF present additional anomalies, which often influence, next to the EA/TEF subtype, the overall prognosis of EA/TEF newborns. Here, we investigated the association of the different EA/TEF subtypes with co-occurring congenital anomalies in EA/TEF patients and demonstrate their implications for postnatal diagnostic workup. MATERIALS AND METHODS: We investigated 333 patients of a large German multicenter study born between 1980 and 2012. After evaluation of all available clinical records, 235 patients were included in our analysis. We compared our results with existing data. RESULTS: The highest risk for co-occurring anomalies was seen in patients with most common Vogt 3b (p = 0.024), especially for additional gastrointestinal anomalies (p = 0.04). Co-occurring anomalies of the skin were significantly more common in patients with subtype Vogt 2 (p = 0.024). A significant correlation was observed for an impaired neurodevelopmental outcome and EA/TEF Vogt 3a (p = 0.041). Patients with EA/TEF showed a higher risk to present with any additional congenital anomaly compared with the general population (p < 0.001). CONCLUSION: Our results warrant thorough clinical workup for gastrointestinal anomalies especially in patients with Vogt 3b. Moreover, it might be necessary to focus on a thorough aftercare for neurocognitive development in patients with Vogt 3a. The here presented observations need to be confirmed by future studies.

Prenatal Diagnosis and Evaluation of Sonographic Predictors for Intervention and Adverse Outcome in Congenital Pulmonary Airway Malformation.

OBJECTIVE: To describe antenatal findings and evaluate prenatal risk parameters for adverse outcome or need for intervention in fetuses with congenital pulmonary airway malformation (CPAM). METHODS: In our retrospective study all fetuses with a prenatal diagnosis of CPAM detected in our tertiary referral center between 2002 and 2013 were analyzed. Sonographic findings were noted and measurements of mass-to-thorax-ratio (MTR), congenital pulmonary airway malformation volume-ratio (CVR) and observed to expected lung-to head-ratio (o/e LHR) were conducted and correlated to fetal or neonatal morbidity and mortality and/or need for prenatal intervention. RESULTS: 67 fetuses with CPAM were included in the study. Hydropic fetuses were observed in 16.4% (11/67) of cases, prenatal intervention was undertaken in 9 cases; 7 pregnancies were terminated. The survival rate of non-hydropic fetuses with conservatively managed CPAM was 98.0% (50/51), the survival rate for hydropic fetuses with intention to treat was 42.9% (3/7). 10 (18.2%) children needed respiratory assistance. Fetuses with a CVR of <0.91 were significantly less likely to experience adverse outcome or need for prenatal intervention with sensitivity, specificity and positive/negative predictive value of 0.89, 0.71, 0.62 and 0.93, respectively. A MTR (mass-to-thorax-ratio) of < 0.51 had a positive predictive value of 0.54 and a negative predictive value of 0.96 of adverse events with a sensitivity of 0.95 and a specificity of 0.63. The negative predictive value for o/e LHR of 45% was 0.84 with sensitivity, specificity and positive predictive value of 0.73, 0.68 and 0.52, respectively. CONCLUSIONS: The majority of cases with CPAM have a favorable outcome. MTR and CVR are able to identify fetuses at risk, the o/e LHR is less sensitive.

Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum.

BACKGROUND: Esophageal atresia with/without trachea-esophageal fistula (EA/TEF) denotes a spectrum of severe congenital malformations. The aim of this systematic study was to determine both the recurrence risk for EA/TEF, and the risk for malformations of the VATER/VACTERL association spectrum, in first-degree relatives of patients with isolated EA/TEF. METHODS: A total of 108 unrelated patients with isolated EA/TEF were included. These individuals had 410 first-degree relatives including 194 siblings. The presence of EA/TEF and malformations of the VATER/VACTERL association spectrum in relatives was systematically assessed. Data from the EUROCAT network were used for comparison. RESULTS: None of the first-degree relatives displayed any form of EA/TEF. In two families, a first-degree relative presented with malformations from the VATER/VACTERL association spectrum. However, no increase in the risk for malformations of the VATER/VACTERL association spectrum was found compared with the control cohort (p = 0.87). In three families, one more distantly related relative presented with EA/TEF. CONCLUSION: In contrast to previous studies, our results suggest a very low recurrence risk for isolated EA/TEF and/or for malformations of the VATER/VACTERL association spectrum among first-degree relatives.