Diagnosis Of Congenital Diaphragmatic Hernia Research Articles

Place of birth and postnatal transfers in infants with congenital diaphragmatic hernia in England and Wales: a descriptive observational cohort study.

To describe clinical pathways for infants with congenital diaphragmatic hernia (CDH) and short-term outcomes. Retrospective observational cohort study using the UK National Neonatal Research Database (NNRD). Babies with a diagnosis of CDH admitted to a neonatal unit in England and Wales between 2012 and 2020. Clinical pathways defined by place of birth (with or without colocated neonatal and surgical facilities), transfers, clinical interventions, length of hospital stay and discharge outcome. There were 1319 babies with a diagnosis of CDH cared for in four clinical pathways: born in maternity units with (1) colocated tertiary neonatal and surgical units ('neonatal surgical units'), 50% (660/1319); (2) designated tertiary neonatal unit and transfer to stand-alone surgical centre ('tertiary designated'), 25% (337/1319); (3) non-designated tertiary neonatal unit ('tertiary non-designated'), 7% (89/1319); or (4) non-tertiary unit ('non-tertiary'), 18% (233/1319)-the latter three needing postnatal transfers. Infant characteristics were similar for infants born in neonatal surgical and tertiary designated units. Excluding 149 infants with minimal data due to early transfer (median (IQR) 2.2 (0.4-4.5) days) to other settings, survival to neonatal discharge was 73% (851/1170), with a median (IQR) stay of 26 (16-44) days. We found that half of the babies with CDH were born in hospitals that did not have on-site surgical services and required postnatal transfer. Similar characteristics between infants born in neonatal surgical units and tertiary designated units suggest that organisation rather than infant factors influence place of birth. Future work linking the NNRD to other datasets will enable comparisons between care pathways.

Characteristics and Outcome of Neonates With Postnatally Diagnosed Congenital Diaphragmatic Hernia

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. 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. 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. 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.

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.

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. 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. diagnosis of CDH (right-sided, left-sided, or bilateral). 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). 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. 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.

Prenatal Brain Maturation is Delayed in Neonates with Congenital Diaphragmatic Hernia

To assess brain development in fetuses with congenital diaphragmatic hernia (CDH) using a fetal Total Maturation Score (fTMS). This is a retrospective cohort study using data from a single-center, clinical registry. Neonates with an antenatal diagnosis of CDH between 2014 - 2020 and prenatal brain magnetic resonance imaging (n = 48) were included. We compared our study sample with historical healthy controls (n = 48). The relationship between fTMS and gestational age, as well as the association between fTMS and key prenatal variables and placental pathologic findings, were evaluated. Compared with healthy controls, neonates with CDH had a significant delay in fTMS (p-value <0.001). Within the CDH cohort, there was no significant difference in fTMS based on CDH severity, intrathoracic liver position, right versus left CDH, sex, presence of abnormal echocardiogram findings, treatment with extracorporeal membrane oxygenation, or in-hospital mortality. Placentas of neonates with CDH had a high proportion of fetal vascular malperfusion (56%) and chronic inflammation (67%), and relatively large placentas had a protective effect on prenatal brain maturation (p-value = 0.025). Prenatal brain maturation in neonates with CDH is delayed. Placental pathology may influence fetal brain development. The etiology and clinical impact of prenatal brain immaturity in neonates with CDH warrant further investigation.

Late congenital diaphragmatic hernia, a case report

BACKGROUND: Congenital diaphragmatic hernia (CDH) is the result of incomplete closure of the pleuroperitoneal canal during the period of fetal development; this diaphragmatic defect allows organs and abdominal content to protrude into the thoracic cavity. Ninety percent of cases are diagnosed prenatally or immediately in newborns. Late presentation hernia is defined as CDH diagnosed after the neonatal period and is relatively rare, with an incidence between 5-30% of cases. Clinical manifestations outside the neonatal period are usually more subtle and nonspecific and present as a diagnostic challenge. CASE REPORT: We present the case of a 3-month-old, eutrophic infant who was brought to the emergency department with 72 hours of evolution alimentary vomiting, irritability and hyporexia. On physical examination he presented abolition of vesicular murmur in the left pulmonary field, so a chest X-ray was performed, which incidentally showed images compatible with intestinal contents in the left thoracic cavity, making the diagnosis of CDH. EVOLUTION: The patient was admitted and corrective surgery of the defect was performed with open technique. The procedure was performed without complications with favorable postoperative evolution. The patient was discharged in good condition 10 days postoperatively. Two subsequent controls were performed, one 15 days and the other one month after hospital discharge; the patient was clinically asymptomatic and without sequelae. CONCLUSION: Late congenital diaphragmatic hernia shows a wide spectrum of clinical presentations, from being asymptomatic to respiratory or digestive symptoms; for this reason it is a diagnostic challenge and it is essential to maintain clinical suspicion in patients with non-specific symptoms. Early surgical intervention is necessary to avoid complications and to favor a good prognosis. The technique used for the resolution of this pathology will depend on each case.

Late diagnosis of congenital diaphragmatic hernia: a case report

BackgroundCongenital diaphragmatic hernia beyond the neonatal period is not uncommon. Its diagnosis in infancy and early childhood poses a challenge owing to different clinical presentation ranging from gastrointestinal to respiratory symptoms. These neonates are usually misdiagnosed as having pneumonia until radiological imaging picks up the defect during routine scan for worsening respiratory symptoms. In high-income countries, the survival rate for these patients has been reported to be high, while in Sub-Saharan Africa the survival rate is still low due to delayed diagnosis, delayed referral, and hence delayed management.Case reportWe present an African male baby from non-consanguineous parents, 6 weeks old, diagnosed with congenital diaphragmatic hernia at 6 weeks of age after failure to respond to antibiotics for suspected pneumonia. Despite attempts at management, he died at 5 weeks post surgery.ConclusionOur case emphasizes the importance of early clinical suspicion and early detection for a differential diagnosis of congenital diaphragmatic hernia in infants who present with respiratory symptoms not responding to antibiotics or recurrent pneumonia, and improving the availability of imaging in primary care facilities to diagnose such defects early and manage them accordingly.

Comparing Intubation Rates in the Delivery Room by Interface.

Positive pressure ventilation (PPV) is crucial to the resuscitation of newborns. Although neonates often require PPV at birth, the optimal interface has not been determined. Both binasal prongs and face masks were deemed acceptable by the International Liaison Committee on Resuscitation in 2010 and have been utilized at our center since 2016; however, the choice is by provider preference. Previous studies have suggested that binasal prongs may be more effective than face masks at avoiding intubation in the delivery room. The objective of this study is to compare intubation rates of binasal prongs versus face masks for delivery room resuscitation of neonates born < 30 weeks' gestation. This retrospective study compares delivery room intubation rates by interface for neonates < 30 weeks' gestation born between August 2016 and April 2021 at our level IV neonatal intensive care unit. Exclusion criteria included diagnosis of congenital diaphragmatic hernia, no PPV required, or no resuscitation attempted. Data collected included interface device, demographics, maternal data, delivery room data, admission data, and discharge outcomes. The three interface groups (binasal prongs, face mask, face mask, and binasal prongs) were compared utilizing chi-square, analysis of variance with post hoc analysis, and logistic regression. Mean gestational ages and birthweights for the groups were 27.6 weeks and 1,126 g, 25.7 weeks and 839 g, and 27.1 weeks and 1,028 g, respectively. Neonates resuscitated with face masks were 9.9 times more likely to be intubated in the delivery room and 10.8 times more likely to be intubated at 6 hours of life compared with those resuscitated with binasal prongs after logistic regression analysis. The findings in our study support delivery room resuscitation with binasal prongs as a useful method in reducing the need for intubation both in the delivery room and at 6 hours of life. Further prospective studies are warranted. · The International Liaison Committee on Resuscitation recommends multiple interface options for neonatal resuscitation.. · Vermont Oxford Network endorses nasal interface for premature infants.. · Binasal prongs are associated with lower intubation rates..

Respiratory physiology during NAVA ventilation in neonates born with a congenital diaphragmatic hernia: The "NAVA-diaph" pilot study.

Neurally adjusted ventilatory assist (NAVA) is a ventilatory mode that delivers synchronized ventilation, proportional to the electrical activity of the diaphragm (EAdi). Although it has been proposed in infants with a congenital diaphragmatic hernia (CDH), the diaphragmatic defect and the surgical repair could alter the physiology of the diaphragm. To evaluate, in a pilot study, the relationship between the respiratory drive (EAdi) and the respiratory effort in neonates with CDH during the postsurgical period under either NAVA ventilation or conventional ventilation (CV). This prospective physiological study included eight neonates admitted to a neonatal intensive care unit with a diagnosis of CDH. EAdi, esophageal, gastric, and transdiaphragmatic pressure, as well as clinical parameters, were recorded during NAVA and CV (synchronized intermittent mandatory pressure ventilation) in the postsurgical period. EAdi was detectable and there was a correlation between the ΔEAdi (maximal - minimal values) and the transdiaphragmatic pressure (r = 0.26, 95% confidence interval [CI] [0.222; 0.299]). There was no significant difference in terms of clinical or physiological parameters during NAVA compared to CV, including work of breathing. Respiratory drive and effort were correlated in infants with CDH and therefore NAVA is a suitable proportional mode in this population. EAdi can also be used to monitor the diaphragm for individualized support.

Lung Ultrasound Score in Neonates with Congenital Diaphragmatic Hernia (CDH-LUS): A Cross-Sectional Study

Introduction: The use of a lung ultrasound (LUS) score has been described in the early phases of neonatal respiratory distress syndrome; however, there is still no data regarding the application of the LUS score to neonates with a congenital diaphragmatic hernia (CDH). The objective of this observational cross-sectional study was to explore, for the first time, the postnatal changes in LUS score patterns in neonates with CDH, with the creation of a new specific CDH-LUS score. Methods: We included all consecutive neonates with a prenatal diagnosis of CDH admitted to our Neonatal Intensive Care Unit (NICU) from June 2022 to December 2022 who underwent lung ultrasonography. Lung ultrasonography (LUS) was determined at scheduled time points: (T0) during the first 24 h of life; (T1) at 24-48 h of life; (T2) within 12 h of surgical repair; (T3) a week after the surgical repair. We used a modified LUS score (CDH-LUS), starting from the original 0-3 score. We assigned 4 as a score in the presence of herniated viscera in the hemithorax (liver, small bowel, stomach, or heart in the case of a mediastinal shift) in the preoperative scans or pleural effusions in the postoperative scans. Results: We included in this observational cross-sectional study 13 infants: twelve/13 had a left-sided hernia (2 severe, 3 moderate, and 7 mild cases), while one patient had a right-sided severe hernia. The median CDH-LUS score was 22 (IQR 16-28) during the first 24 h of life (T0), 21 (IQR 15-22) at 24-48 h of life (T1), 14 (IQR 12-18) within 12 h of surgical repair (T2) and 4 (IQR 2-15) a week after the surgical repair (T3). The CDH-LUS significantly dropped over time from the first 24 h of life (T0) to a week after the surgical repair (T3), according to ANOVA for repeated measures. Conclusion: We showed a significant improvement in CDH-LUS scores from the immediate postoperative period, with normal ultrasonographic evaluations a week after surgery in most patients.

Brain growth in fetuses with congenital diaphragmatic hernia.

To perform a volumetric evaluation of the brain in fetuses with right or left congenital diaphragmatic hernia (CDH), and to compare brain growth trajectories to normal fetuses. We identified fetal MRIs performed between 2015 and 2020 in fetuses with a diagnosis of CDH. Gestational age (GA) range was 19-40 weeks. Control subjects consisted of normally developing fetuses between 19 and 40weeks recruited for a separate prospective study. All images were acquired at 3 Tesla and were processed with retrospective motion correction and slice-to-volume reconstruction to generate super-resolution 3-dimensional volumes. These volumes were registered to a common atlas space and segmented in 29 anatomic parcellations. A total of 174 fetal MRIs in 149 fetuses were analyzed (99 controls [mean GA: 29.2±5.2weeks], 34 fetuses left-sided CDH [mean GA: 28.4±5.3weeks], and 16 fetuses right-sided CDH [mean GA: 27±5.4weeks]). In fetuses with left-sided CDH, brain parenchymal volume was -8.0% (95% confidence interval [CI] [-13.1, -2.5]; p=.005) lower than normal controls. Differences ranged from -11.4% (95% CI [-18, -4.3]; p<.001) in the corpus callosum to -4.6% (95% CI [-8.9, -0.1]; p=.044) in the hippocampus. In fetuses with right-sided CDH, brain parenchymal volume was -10.1% (95% CI [-16.8, -2.7]; p=.008) lower than controls. Differences ranged from -14.1% (95% CI [-21, -6.5]; p<.001) in the ventricular zone to -5.6% (95% CI [-9.3, -1.8]; p=.025) in the brainstem. Left and right CDH are associated with lower fetal brain volumes.

Age and weight no bars for congenital diaphragmatic hernia

Background: Congenital diaphragmatic hernia (CDH) of the left side may clinically manifest as chronic wheezing or gastrointestinal reflux disease in older children. Misdiagnosis of CDH is common in later age groups. Case Description: An 11-year-old boy presented to the outpatient department with a history of intermittent cough for 2 years and acid reflux. He was treated with a case of bronchial asthma and received symptomatic treatment for the same, but he continued to have symptoms without much relief. On examination, he was found obese with no signs of respiratory distress. On auscultation, there were reduced breath sounds in the left inframammary, infra-axillary, and infrascapular region with a normal examination of other systems. Management: The chest X-ray was suggestive of heterogeneous opacities engulfing more than half of the left hemithorax in the middle and lower zone of the left lung area with nonvisualization of the left dome of the diaphragm and the presence of abdominal gas shadows in the opacity. Considering the possibilities of diaphragmatic hernia or eventration, high-resolution computed tomography of the thorax was done, and left-sided Bochdalek hernia was confirmed. The child underwent surgical repair uneventfully and was discharged home with no complications. Conclusion: An adolescent boy has a late diagnosis of left-sided CDH. Considering the wide spectrum of clinical presentation, a high index of suspicion is crucial for the diagnosis of CDH since it might develop into a life-threatening condition. An excellent prognosis can be achieved with early diagnosis and effective therapy.

Factors contributing to mortality in neonates with congenital diaphragmatic hernia and eventration.

Despite all the advances, the mortality rate of congenital diaphragmatic hernia (CDH) ranges from 30% to 60% for isolated CDH and as high as 89% when they are associated with additional structural or chromosomal anomalies. Hence, a study was conducted to evaluate the factors contributing to the mortality of neonates treated for CDH or the eventration of diaphragm. A retrospective study was conducted in the department of paediatric surgery at a tertiary centre. The neonates admitted with a diagnosis of CDH or eventration requiring surgery, between March 2013 and March 2021, were included in the study. A total of 123 neonates were included in the study. The variables, earlier median age at presentation (1 [1-23] vs. 3 [1-28]; P < 0.001; Mann-Whitney U-test), preterm birth (10/79 vs. 0/44; P = 0.01; Fischer's exact test), inborn (68/79 vs. 27/44; P = 0.002; Chi-square test), weight ≤2 kg (18/79 vs. 1/44; P = 0.003; Chi-square test), central cyanosis at presentation (21/79 vs. 1/44; P < 0.001; Chi-square test), antenatal detection (47/79 vs. 14/44; P = 0.003; Chi-square test) and earlier mean age at surgery (3.66 ± 1.47 vs. 7.66 ± 6.88; P < 0.001; Independent sample t-test) were associated with increased mortality. On multinominal logistic regression analysis, the factors preterm (odd's Ratio [OR] =4.735; P = 0.03), weight ≤2 kg (OR = 5.081; P = 0.02), central cyanosis at presentation (OR = 6.969; P = 0.008) and antenatal detection (OR = 7.471; P = 0.006) were found to be independently associated with increased mortality in CDH/eventration. The factors: prematurity, weight <2 kg, cyanosis at presentation and antenatal diagnosis were independently associated with increased mortality in neonates with CDH/eventration requiring surgery.

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

Heterozygous missense variants in TGFBR1, encoding one subunit of the transforming growth factor-beta receptor, are a well-established cause of Loeys-Dietz syndrome (LDS)-an autosomal dominant disorder with variable phenotypic expression. Patients with LDS have compromised connective tissues that can result in life-threatening arterial aneurysms, craniosynostosis, characteristic craniofacial and skeletal anomalies, skin translucency, and abnormal wound healing. We report a full sibship with a biallelic type of TGFBR1-related disease. Each born at 38 weeks had aortic root dilation, congenital diaphragmatic hernia (CDH), skin translucency, and profound joint laxity at birth. Both had progressive dilation of the aorta and recurrence of a diaphragmatic defect after plication early in infancy. Patient 1 died at 66 days of age and Patient 2 is alive at 4 years and 4 months of age with multiple morbidities including cystic lung disease complicated by recurrent pneumothoraces and ventilator dependence, craniosynostosis, cervical spine instability, progressive dilation of the aorta, worsening pectus excavatum, large lateral abdominal wall hernia, and diffuse aortic ectasia. Fibroblasts cultured from Patient 2 showed decreased TGF-β responsiveness when compared to control fibroblasts, consistent with previous observations in cells from individuals with autosomal dominant LDS. Whole genome copy number evaluation and sequencing for both patients including their parents as reference revealed compound heterozygous variants of uncertain clinical significance in exon 2 of TGFBR1 (c.239G>A; p.Arg80Gln paternal and c.313C>G; p.His105Asp maternal) in both siblings in trans. Each parent with their respective variant has no apparent medical issues and specifically no LDS characteristics. Neither of these variants have been previously reported. Thousands of patients have been diagnosed with LDS-an established autosomal dominant disease. These siblings represent the first reports of biallelic TGFBR1-related LDS and expand the differential diagnosis of CDH.

Termination of pregnancy after a prenatal diagnosis of congenital diaphragmatic hernia: Factors influencing the parental decision process.

To evaluate the incidence of termination of pregnancies (TOP) and factors associated with the decision for TOP in prenatally detected congenital diaphragmatic hernia (CDH). Single-centre retrospective cohort includes all prenatally detected CDH cases born between January 2009 and December 2021. Parental factors, such as parity, and fetal characteristics, such as disease severity, were collected. Descriptive statistics were used to present the data. Differences between terminated and continued pregnancies were analysed. The study population consisted of 278 prenatally detected CDH cases of which 80% detected <24weeks of gestation. The TOP rate was 28% in cases that were detected <24weeks of gestation. Twenty continued pregnancies resulted in either intrauterine fetal demise (n=6), preterm birth <24weeks (n=2), or comfort care after birth (n=12). The survival rate was 70% in the remaining 195 live born cases. Factors associated with the decision for TOP were additional fetal genetic or anatomical abnormalities (p<0.0001) and expected severity of pulmonary hypoplasia in left-sided CDH (p=0.0456). The decision to terminate a pregnancy complicated by fetal CDH depends on the severity of pulmonary hypoplasia and the presence of additional abnormalities. This emphasises the importance of early referral to expertise centres for detailed evaluation and multidisciplinary counselling.

Attempt to shift from traditional to minimal invasive treatment of congenital diaphragmatic hernia at a low volume center

Congenital diaphragmatic hernia (CDH) remains a significant cause of neonatal morbidity and mortality. During the last 10-years, the progress on minimal invasive surgical techniques, has stimulated many Pediatric Surgical centers to switch from traditional open surgery to thoracoscopic or laparoscopic repair. We report our experience to convert treatment of CDH from traditional to minimal invasive. We have reviewed the charts of 10 neonates with diagnosed CDH over the period 2016–2021. On all of them, we collected pre, intra and post-operative information. Interestingly, none of neonates had prenatal diagnosis of CDH but this didn't impact on morbidity or mortality. None of them was extremely preterm or had major cardiac anomalies. Thoracoscopic or laparoscopic approach was attempted in 3 cases but only in one patient was successful. In the other 2 neonates we had to switch to open surgery because of anatomical conditions. In our opinion, the learning curve needed to achieve minimal invasive treatment of CDH is associated with a high conversion rate often, as a consequence of anatomical conditions.

Respiratory function after birth in infants with congenital diaphragmatic hernia

ObjectiveTo characterise the transitional pulmonary physiology of infants with congenital diaphragmatic hernia (CDH) using measures of expiratory tidal volume (TV) and end-tidal carbon dioxide (ETCO2).DesignProspective single-centre observational study.SettingQuaternary neonatal intensive...

Congenital diaphragmatic hernia: Prognostic value of hernia sac and size of defect

Introduction: Congenital diaphragmatic hernia (CDH) is a congenital malformation with challenging management. The aim of this study was to evaluate the effect of the presence of hernia sac and defect size on the prognosis of CDH in Tabriz children’s hospital. Methods: In this prospective study, all the infants with the diagnosis of CDH that were admitted to the Tabriz children’s hospital since 2016-2019 were enrolled. The presence or absence of a hernia sac was evaluated, and the largest diameter on diaphragmatic defect was measured before the repair. Postoperative outcomes, including instability, duration of mechanical ventilation, mortality rate, or hospital discharge were obtained and analyzed. Results: Over the study period, 30 patients with CDH met the inclusion criteria, consisting of 15 males and 15 females. Fifteen cases were diagnosed during the first 24 hours of life and 16 cases experienced hypoxia in the first hour after birth. Defect size was significantly smaller in survived patients (P=0.041). Postoperative death occurred in 9 (42.85%) patients without a hernia sac. Results showed that none of the cases with hernia sac expired (P=0.035). Conclusion: In our study, the presence of the hernia sac was related to a lower postoperative mortality rate. Defect size in survived group was also smaller. It can be suggested that the presence of hernia sac and lower diameter of defect size act as good prognostic factors in the outcome of patients with CDH.

Prenatal diagnosis of congenital diaphragmatic hernia: Parental counselling and support needs

To define the dimensions of patient-centeredness of prenatal care for parents who had a fetus with isolated congenital diaphragmatic hernia (CDH) by exploring their values, experiences, needs and preferences. In-depth interviews with parents who were faced with the prenatal diagnosis of isolated CDH. Interviews (n=18) identified seven dimensions of patient-centeredness. Parental preferences are respected by unconditional acceptance of parental choices and needs. After diagnosis access to care should occur by swift referral to a specialised centre to prevent parents receiving contradictory information. Information and education help parents to gain some sense of control and cope with the many uncertainties. A multidisciplinary team with a coordinating professional is perceived supportive (coordination and integration), and seamless referral between local and treatment centres reduces parental distress (continuity and transition). Family-centred emotional support helps parents to cope with emotions and distress. Informal support by involvement of family and friends and trusted peer-support is of added value. The impact of the uncertainty of outcome in this condition is tremendous and needs to be considered when providing prenatal care. After initial diagnosis, one should avoid speculation about the severity of the condition and outcome, and provide swift referral to a specialist centre expert in managing CDH. Provision of realistic and comprehensive information helps parents cope. Multidisciplinary and continuous support throughout the full trajectory, but also integrated psychosocial support should become standard-of-care.

How should fetal surgery for congenital diaphragmatic hernia be implemented in the post-TOTAL trial era: A discussion.

Following prenatal diagnosis of congenital diaphragmatic hernia, severity can be predicted based on the presence of associated abnormalities, and in isolated cases, on lung size and position of the liver. Severe hypoplasia is defined by a contralateral lung size <25% on ultrasound; moderate hypoplasia is when that lung measures between 25% and 45% of the normal. In fetuses with predicted poor postnatal outcome a procedure that reverses pulmonary hypoplasia may be considered. In uncontrolled studies, fetoscopic endoluminal tracheal occlusion (FETO) improved neonatal outcome. Recently, two randomized controlled trials compared the neonatal and infant outcomes in fetuses with isolated CDH (www.totaltrial.eu). Insevere cases, FETO was carried out at 27+0 -29+6 weeks' gestation (referred to as "early") and in moderate at 30+0 -31+6 weeks ("late"). Survival to discharge from the neonatal intensive care unit increased by 25% (95%-CI:+6 to +46; p=0.0091) and 13% (-1 to +28; p=0.059), in fetuses with severe and moderate cases, respectively. Following FETO gestational age at delivery was on average 3.2 (2.3-4.1) weeks earlier following early and 1.7 (1.1-2.3) following late FETO. Here the strengths and weaknesses of the TOTAL trials and their translation to the clinic are debated. Discussants are the lead for the trial (JD) and a colleague (AF) not involved. The discussant notes that the observed survival, both in treated and expectantly managed fetuses, was overall less than what is reported by some high volume centers, particularly in North America. Additional criticisms are the potential effects of prematurity on the long term, the inclusion of low-volume centers, and the potential of FETO for severe iatrogenic complications. Therefore results may not be generalizable. The discussants concluded that although FETO may have its value it remains a procedure with a high risk for prematurity and it can be lethal when the balloon cannot be removed prior to delivery. CLINICAL TRIAL REGISTRATION: The TOTAL trials were registered at www.clinicaltrials.gov as NCT01240057 (severe) and NCT00763737 (moderate).

Parvovirus B19 Intrauterine Infection and Eventration of the Diaphragm

Parvovirus B19 infection in pregnancy may have a poor outcome for the fetus. Ocular anomalies, brain damage with hydrocephalus and central nervous system (CNS) scarring, cleft lip and hypospadias, as well myocarditis and congenital heart disease have been reported. We present a case of a preterm female neonate born with ascites, hydrothorax and congenital diaphragmatic eventration (CDE), with a prenatal diagnosis of congenital diaphragmatic hernia (CDH). The neonate was born prematurely at 32 weeks gestation with caesarean section due to a previous caesarean delivery. She was immediately intubated in the delivery room, transferred in the Neonatal Intensive Care Unit (NICU) and supported with high frequency oscillatory ventilation (HFOV). The diagnosis of CDH was sonographically estimated from the 20th week of gestation and surgical correction was decided. During surgery CDE was diagnosed instead of CDH and despite postoperatively care the neonate developed disseminated intravascular coagulation and finally died in the 40th hour of life. Along with the identification of parvovirus B19 in the pleural fluid by PCR, the biopsy of the diaphragm revealed connective tissue, full of vasculature and absence muscle tissue. Although only cytomegalovirus, rubella, and toxoplasmosis were considered to be associated with CDE, parvovirus B19 might also be related to this congenital diaphragmatic malformation. In CDE, the function of the lungs can be compromised as a consequence of the compression applied by the abdominal organs. The neonatologists should include this condition in their differential diagnosis for a more direct and effective management.