Cases Of Congenital Diaphragmatic Hernia Research Articles

Congenital diaphragmatic hernia (CDH) in wales 1989–2010

AimsTo determine the incidence, co-morbidities and outcome of congenital diaphragmatic hernia (CDH) in Wales.MethodsThis retrospective database review used 2 data-sets-CARIS (Congenital Anomaly Register & Information Service, Wales) to determine incidence,...

Congenital diaphragmatic hernia: optimising outcomes through a consistent care bundle approach

St Michael's NICU (StMH) provides pre and postoperative care for all newborns with an ante/postnatal diagnosis of congenital diaphragmatic hernia (CDH) in South-West England. A consistent care bundle is followed...

Anesthesia Literature Review

Anesthesia Literature Review

Childbearing After Hyperthermic Intraperitoneal Chemotherapy: Results From an International Survey

Cytoreductive surgery (CRS) and heated intraperitoneal chemotherapy (HIPEC) can improve survival in selected patients with primary or secondary peritoneal malignancies. With the opportunity for long-term survival, questions about the impact of those procedures in fertility in women of childbearing age can be raised. An international survey was performed among all teams participating in the International Peritoneal Surface Malignancy Group in order to collect data about pregnancies and their outcome in women having undergone previous CRS with adjuvant HIPEC. There were 7 pregnancies reported after CRS and HIPEC in women treated for peritoneal malignancies. All these women conceived spontaneously, most of them within 2 years after the procedure. They delivered most often by vaginal way after an uneventful pregnancy. Their newborns were healthy, except 1 case of congenital diaphragmatic hernia requiring emergent surgery. There were 2 additional uneventful pregnancies reported after the diagnosis of pseudomyxoma peritonei and before CRS and HIPEC, with the support of the medical team. Another woman having undergone oocytes retrieval and embryo cryopreservation prior to the surgery was mother of twins after the procedure via a surrogate mother. Childbearing after cytoreductive surgery and heated intraperitoneal chemotherapy is possible in women conserving their genital organs after the procedure. The question of fertility should be considered and discussed in women in reproductive age prior to cytoreductive surgery and heated intraperitoneal chemotherapy. Different options could be offered in this setting. Multidisciplinary decision making involving surgical oncologists and fertility specialists is important.

Fetoscopic Endotracheal Occlusion for Severe Isolated Diaphragmatic Hernia: Initial Experience from a Single Clinic in Brazil

Objective: To report on the initial experience in a single Brazilian university clinic of the use of fetoscopic endotracheal occlusion (FETO) to treat severe isolated congenital diaphragmatic hernia (CDH). Methods: The inclusion criteria for FETO for this prospective study were isolated CDH and intrathoracic herniation of the liver, as well as the lung area to head circumference ratio (LHR) <1.0. The main variables evaluated were LHR and observed to expected (o/e) LHR before and after FETO, gestational age (GA) at FETO, reversal of tracheal occlusion (TO), and birth and discharge of a living child from the hospital. Results: Among 8 isolated left-sided CDH cases with normal karyotypes, the median LHR and o/e LHR before FETO were 0.7 (range: 0.6–0.9) and 0.27 (range: 0.22–0.32), respectively. The median LHR and o/e LHR after FETO were 1.2 (range: 0.9–1.8) and 0.45 (0.31–0.67), respectively. The median GA at FETO, reversal of TO and birth were 26.8 (range: 26–29), 32.5 (range: 31.0–34.0) and 37 weeks (range: 35–37), respectively. Neonatal survival at the time of hospital discharge was 50% (4/8). Conclusion: FETO is feasible at our institution and may help to improve postnatal survival of children with severe CDH in developing countries.

Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a congenital malformation that has a reported incidence ranging from 2.4 to 4.1 in 10,000 births. Despite advances in neonatal care, a mortality rate of 33% is still reported with isolated CDH, predominantly due to hypoxic respiratory failure secondary to pulmonary hypoplasia. Fryns syndrome is the most common autosomal recessive syndrome associated with CDH, reported in up to 10% of patients with CDH, comprising CDH, pulmonary hypoplasia, craniofacial abnormalities, distal limb hypoplasia and internal malformations. We present two siblings with lethal CDH born within a 30 month period. The clinical course in these two infants is described and the possible mode of inheritance for CDH in this family is reviewed. In spite of lacking many advanced chromosomal evaluations in our institute we recommended for further investigation into isolated and particularly familial cases may lead to the identification of genetic abnormalities detectable with FISH assay, locus-specific DNA probes, or other new techniques. There remains an ongoing need for careful clinical review and blood banking of cases of CDH to allow better insight into the genetic causes of severe fetal anomalies such as CDH.

Comparison between late-presenting and isolated neonatal congenital diaphragmatic hernias

Late-presenting posterolateral congenital diaphragmatic hernias (CDH) are anatomically similar to isolated neonatal CDH but are diagnosed and treated after the first month of life. We aim to characterise the clinical manifestations and short-term postoperative course of this entity and compare it with isolated CDH of the neonatal period. In the 30-year period from 1980 to 2010, 116 children with CDH were treated at the Aghia Sophia Children's Hospital, Athens, Greece. Twenty-three (19%) of these children were late-presenting cases, being diagnosed between the ages of 1 month and 4 years. Ninety-three were neonatal cases, of whom 22 (24%) were excluded due to severe associated anomalies, leaving 71 cases of isolated neonatal CDH. We compared these two groups of patients with regard to preoperative symptoms, postoperative hospital stay, time to complete feeding, overall complication rate, and reoperation rate. Isolated neonatal cases presented more often with acute respiratory symptoms (n=25; P= 0.016) and failure to thrive (n= 38; P= 0.03). Late-presenting cases presented more often with chronic respiratory symptoms (n=14;P= 0.0044) or gastrointestinal symptoms (n=12; P= 0.006). Thirty-five cases with minor or serious complications were reported in the neonatal group, whereas only five complications were observed in the late-presenting group (P= 0.028). We did not record any recurrences or reoperations in the late-presenting group, but we had two recurrences and three reoperations in the neonatal group. Time to full feeds and postoperative hospital stay was shorter in the late-presenting group. Our data demonstrate differences between the two groups in preoperative symptoms and short-term postoperative complications and short-term outcome. Late-presenting cases of CDH had a greater number of chronic symptoms preoperatively, more favorable postoperative outcomes, and less recurrences and reoperations.

Challenges in the management of early versus late presenting congenital diaphragmatic hernia in a poor resource setting

Despite the advances in management, congenital diaphragmatic hernia (CDH) has continued to pose a significant challenge to paediatric surgeons. This is amplified in a setting like ours where there is a dearth of facilities to cope with the problem of CDH. This study was undertaken to highlight the peculiarities of the management of CDH in a poor resource setting. All confirmed cases of CDH were prospectively documented from 2003 till date. Seven children were treated from 2003 till date. The diaphragmatic defect was on the left side in six (83.8%) and on the right side in one (17.7%). All the patients had primary closure of the defect without patch via an abdominal approach. The three patients presenting at birth died while the remaining four patients survived. With inadequate neonatal intensive care facilities, the severe early presenting CDH has a dismal prognosis. In contrast, the late presenting CDH poses more diagnostic challenges; but once identified and appropriate treatment instituted, it has an excellent prognosis. We recommend that physicians should include CDH in the differential diagnosis of patients with birth asphyxia and in patients with chronic respiratory symptoms with failure to thrive.

Epidemiology and outcome of congenital diaphragmatic hernia: a 9‐year experience

The aim of this study was to report the birth prevalence and short-term outcome of congenital diaphragmatic hernia (CDH) in a large geographically defined population, and to assess the feasibility of performing a randomised control trial (RCT) in this population. Data were collected on all cases of CDH reported to the East Midlands and South Yorkshire Congenital Anomalies Register between 1997 and 2005. A total of 194 cases of CDH were identified from 547,025 births; a birth prevalence of 3.5/10,000. Overall 1-year survival was 42%. In total, 69% of cases resulted in a live birth, of these 61% survived to 1 year; 73% were diagnosed antenatally and 22% postnatally, with 1-year survivals 30% and 71%, respectively. A total of 54% were isolated cases and 46% associated with another anomaly, with more live births (80% vs. 56%) and better 1-year survival (62% vs. 19%) with isolated CDH. Overall, only 83 babies were born alive with an isolated CDH: the only group suitable for inclusion in a RCT. In conclusion, given the small numbers of live isolated CDH cases it is impossible that any network alone would be able to perform a valid RCT of treatments, highlighting the need for collaborative international trials to address this complex condition.

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

Congenital diaphragmatic hernia (CDH) is a congenital birth defect affecting around 1/3000 births. We propose that a significant number of isolated CDH cases have an underlying genetic cause, and that a subset of these result from copy number variations (CNVs) identifiable by array CGH. We have designed a custom array targeted at genes and genomic loci associated with CDH. A total of 79 isolated CDH patients were screened using this targeted array. In three patients, we detected genomic imbalances associated with the observed diaphragmatic hernia; a deletion of 8p22-p23.3, 14.2 Mb in size, a 340 kb duplication of Xq13.1 including the ephrin-B1 gene (EFNB1), and mosaicism for trisomy 2. Using this approach, we detected genomic imbalances associated with CDH in 3/79 (4%) isolated CDH patients. Our findings further implicate 8p deletions as being associated with CDH. The duplication of EFNB1 further highlights this gene as a potential candidate involved in diaphragm development. Mosaicism for trisomy 2 is a rare event and unlikely to be a common cause of CDH. Further investigations of isolated CDH patients by array CGH will continue to identify novel submicroscopic loci and refine genomic regions associated with CDH.

970 Congenital Diaphragmatic Hernia: Fetal and Postnatal Survival

Background: Congenital diaphragmatic hernia (CDH) occurs in 1 in 3000 live births. A high incidence of termination of pregnancy (TOP) following antenatal diagnosis of CDH. Irish demographics may be different due to the national legislation against TOP. Methods: Retrospective 14-year study of antenatal and postnatal CDH diagnosis Results: 53 cases of CDH between 1995-2009. Data on 26 cases born at NMH were available for analysis. 19/26 cases were diagnosed antenatally at gestations ranging from 16-38 weeks and 7 were diagnosed postnatally. 7/26 had other significant congenital anomalies. 2/26 had abnormal karyotypes. 4/26 had right CDH and the remainder was left sided. The hernia contained stomach (8/26), bowel (11/26). 9/26 had mediastinal shift. 23/26 were transferred to a tertiary paediatric surgical centre and 3/26 died prior to transfer. Average LOS was 9.6 hours (range 2- 24 hours) prior to transfer. 3 were not ventilated prior to transfer and 9 needed HFOV with 12 on iNO. 2 patients were referred for ECMO one of whom survived and the other died prior to starting treatment. Survival data was available in 17/26 cases 10/17 (58%) were alive. 6/13 of those diagnosed antenatally and 4/4 of those diagnosed postnatally. 3/7 died prior to transfer. 4 died at the paediatric hospitals. 46% survival among those diagnosed antenatally but 100% if diagnosed postnatally. Conclusion: Antenatal diagnosis of CDH and other abnormalities is increasing in Ireland due to improved antenatal surveillance. Planned delivery of CDH within routine working hours enables rapid planned transfer to paediatric intensive care.

Examining the Relationship between the Lung-to-Head Ratio Measured on Ultrasound and Lung Volumetry by Magnetic Resonance in Fetuses with Isolated Congenital Diaphragmatic Hernia

Purpose: In fetuses with isolated congenital diaphragmatic hernia (CDH), lung development can be measured by the lung-to-head ratio (LHR) using ultrasound as well as by lung volumetry determined by fetal magnetic resonance imaging (MRI). We aimed to investigate their relationship as well as to analyze the factors that may have an impact on it. Material and Methods: In 153 consecutive fetuses with isolated CDH, both the LHR and total fetal lung volume (TFLV) were measured. The observed LHR was calculated by dividing the lung area by the head circumference. On MRI, planimetric measurements of ipsilateral, contralateral and TFLV were performed on T₂-HASTE (half-Fourier acquisition single-shot turbo spin echo) sequences in transverse as well as coronal or sagittal planes. All values were expressed as a ratio of what was observed over what is expected in a gestational age-matched normal fetus. Secondary analyses were performed for right- versus left-sided hernia and for measurements made prior to 25 weeks’ gestation. A multivariate linear regression approach was used to determine the influence of the independent variables such as observed/expected (O/E) LHR, gestational age, liver position and CDH side on the dependent variables O/E TFLV and O/E contralateral FLV, and to determine the optimal formulas for calculation of the O/E TFLV as well as contralateral FLV. Results: In total, 200 pairs of measurements were obtained between 20 and 37 weeks’ gestation (median 26+6). There was a significant association between the O/E contralateral FLV and O/E LHR (R² = 0.44; p < 0.001) as well as between the O/E TFLV and the O/E LHR (R² = 0.37; p < 0.001). After adding the independent variables that were first shown to be significant on univariate analysis, the multiple regression analysis demonstrated that gestational age (p = 0.017) and side of the defect (p < 0.001) were predictive of O/E LHR (p < 0.001) and strongly improved the estimation of O/E TFLV (R² = 0.43 instead of 0.37 when using O/E LHR only). In terms of estimating O/E contralateral FLV, only the O/E LHR was a significant (p < 0.001) independent predictor (R² = 0.44). These correlations also applied when considering only left-sided CDH cases. For measurements done prior to the third trimester, the O/E LHR (p = 0.034), gestational age (p = 0.035) as well as liver herniation (p = 0.029) were significantly correlated to the O/E TFLV (R² = 0.33). In terms of predicting the O/E contralateral FLV (R² = 0.25), only O/E LHR (p = 0.008) and gestational age (p = 0.037) were useful predictors. Conclusion: Measurement of the O/E LHR on ultrasound allows a good estimation of the O/E contralateral FLV as well as TFLV as measured by MRI. Whereas the additional parameters such as gestational age, liver position and side of the defect did not improve the estimation of the contralateral FLV, they did so for estimating the TFLV.

Indications for thoracoscopic repair of congenital diaphragmatic hernia in neonates

We reviewed 26 consecutive cases of congenital diaphragmatic hernia (CDH) prospectively to establish selection criteria for successful thoracoscopic CDH repair (TR). Five preoperative deaths were excluded, leaving 21 subjects. TR was only considered once pulmonary hypertension (PH) improved on echocardiography, and if cardiopulmonary status was stable in the decubitus position in the neonatal intensive care unit (NICU) under conventional mechanical or high-frequency oscillatory ventilation (HFOV) with/without nitric oxide (NO) for at least 10 min as a marker for tolerating surgery and manual ventilation was possible for transfer to the operating room. All other patients had open repair (OR). 8/21 had TR and 13/21 had OR. There were significant differences between TR and OR for prenatal diagnosis (37.5 vs. 84.6%, p < 0.05) and earlier surgery (1.4 ± 0.8 vs. 2.5 ± 1.1 days after birth, p < 0.05), respectively. Intraoperative HFOV was required in all OR and 3 TR (p < 0.01). NO was required in 1 TR and 10 OR (p < 0.01). Organ herniation was significantly less in TR (50 vs. 100%, p < 0.01 for stomach; 0 vs. 54%, p < 0.05 for liver). Three TR required conversion to OR because of technical difficulties. One OR died from deteriorating PH. Our selection criteria for TR would appear to be safe and reasonable.

Maternal periconceptional exposure to cigarette smoking and alcohol consumption and congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a major birth defect that occurs when abdominal organs herniate through a diaphragmatic opening into the thoracic cavity and is associated with high mortality (>50%). The etiology of CDH is not well understood. Using data from the National Birth Defects Prevention Study, we examined associations between CDH and maternal periconceptional exposure (1 month before through the third month of pregnancy) to cigarette smoking and alcohol. Interview reports of exposures were provided by mothers of CDH (n = 503) and unaffected control (n = 6703) infants delivered from October 1997 through December 2005. Any exposure (yes/no), as well as quantity (average number of cigarettes or drinks), type (active/passive smoking; beer, wine, distilled spirits), and duration (e.g., number of months exposed) were examined. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were calculated for all CDH cases combined, selected subtypes (Bochdalek, Morgagni, not otherwise specified), and phenotypes (infants with/without additional major birth defects). The aOR for any smoking was nonsignificantly elevated for all CDH cases combined. Odds of any smoking was significant for isolated Bochdalek CDH (aOR, 1.9; 95% CI, 1.2-3.0). The aORs associated with all measures of alcohol consumption were near unity for each CDH category examined. Stratification of smoking exposure by alcohol consumption and stratification of alcohol consumption by smoking exposure did not appreciably change the aORs. These findings identified periconceptional smoking exposure as a potential risk factor for CDH. Future studies need to confirm our findings and explore possible pathways accounting for the teratogenic effect of smoking.

CONGENITAL DIAPHRAGMATIC HERNIA

We report a case of late-presenting congenital diaphragmatic hernia (CDH) in a three-month-old male infant presenting to the pediatric hospital with attacks of cough and cyanosis .Although CDH is usually manifested on the first day of life, there are a number of case reports of late-presenting CDH usually presenting with respiratory or gastrointestinal symptoms. In this case report, we have focused on the anesthetic management of late-presenting CDH. Text: Congenital diaphragmatic hernia is usually manifested on the first days of life as respiratory distress and a scaphoid abdomen. The abnormality is herniation of the abdominal viscera through a defect in the diaphragm, most commonly the foramen of Bochdalek on the left side1. These infants often have a dramatic presentation3, in contrast, late onset or late- presenting CDHs present outside the neonatal period with variable signs and symptoms4. We describe a case of late-presenting CDH that referred to the pediatric hospital with attacks of cough and cyanosis.

Outcomes of multigestational pregnancies affected by congenital diaphragmatic hernia

Background/purpose The prognosis for multiple vs singleton pregnancies affected by congenital diaphragmatic hernia (CDH) is not known. To improve the counseling of families with multiple gestation pregnancies complicated by CDH, we examined outcomes of a consecutive series of CDH cases occurring in multiple gestation pregnancy referrals. Methods Clinical characteristics and morbidity and mortality data were gathered for a consecutive series of infants with CDH from 16 multiple gestation pregnancies. Outcomes were compared to a cohort of 91 patients with CDH from singleton pregnancies. Multivariate regression was also used in an attempt to determine whether multiple gestation pregnancy was independently predictive of subsequent long-term adverse outcomes. Results Four pregnancies were lost to follow-up, and 1 underwent selective reduction. Overall mortality for live-born multiple gestation fetuses affected by CDH was 30% and was 8% for unaffected siblings. No pregnancy was concordant. Clinical features were not different between the case series and control infants, except median gestational age at delivery, which was significantly lower for the multigestational infants (34 [range, 32-36] vs 38 [range, 28-41] weeks) ( P = .02). Long-term morbidity was comparable between cases and controls. Conclusions In terms of mortality, outcomes of multigestational pregnancies affected by CDH are no worse than for CDH pregnancies in general. Long-term risk may depend more on CDH severity rather than the presence of multiple fetuses.

Predictors of the need for extracorporeal membrane oxygenation and survival in congenital diaphragmatic hernia: a center's 10‐year experience

To determine the prenatal factors associated with the need for extracorporeal membrane oxygenation (ECMO) and neonatal survival in congenital diaphragmatic hernia (CDH). A retrospective cohort study of all cases of CDH seen in our center between 1998 and 2008. Prenatal ultrasound and neonatal records were reviewed. Both univariable and logistic regression analyses were performed to determine the significant factors associated with the use of ECMO and survival. Among 107 cases of CDH seen during the study period, 62 were evaluated prenatally in our center and 49 had information on all variables evaluated. The overall rate of ECMO use was 27/107 (25%) and survival rate was 53/107 (49.5%). The lung area to head circumference ratio (LHR) and gestational age (GA) at delivery were the only significant factors associated with ECMO use, and the LHR and absence of liver herniation were significantly associated with survival. LHR values under 1.0 were associated with 57% need for ECMO and 100% neonatal death. Although, overall, the observed:expected LHR (O:E LHR) was not significantly associated with ECMO use or survival, levels below 65% were associated with 58% need for ECMO (p = 0.004) and 100% neonatal death (p = 0.002). The study confirms the LHR, GA at delivery and liver herniation as significant prenatal predictors of the need for ECMO or survival in cases with CDH. This information is helpful for counseling women with fetuses complicated by CDH.

Concomitant malformations and chromosomal abnormalities in prenatally diagnosed congenital diaphragmatic hernia

Objective To analyze the concomitant malforrnations,chromosomal abnormalities and outcomes in prenatally diagnosed congenital diaphragmatic hernia (CDH) cases. Methods Cases of fetal CDH,prenatally identified in the First Affiliated Hospital of Sun Yat-sen University from January 2002 to November 2008,were recruited.The concomitant realformations,chromosomal abnormalities and outcomes of fetal CDlH were analyzed.Fisher's exact test was applied. Results During the study period,71 CDH cases were identified including 62(87.3%) left-sided CDH and 9 (12.7%) right-sided ones.Among the 71 CDH fetuses,38(53.5%)were isolated CDH.33 (46.5%)were complicated with other realformations(complex CDH),including 18(54.5 0A) cardiovascular defects,10 (30.3%)central nervous system abnormalities,9(27.2 0A)genitourinary abnormalities and others.Fetal karyotying was performed in 19 out of the 71 CDH fetuses.among which 12 were isolated CDH cases with normal karyotype,and 4 of the rest 7(4/7)complex CDH cases with chromosomal abnormalities showing a significant differenee compared to the isolated CDH (P.0.009).Sixty-five pregnancies were terminated including all complex CDH(n=33)and 32 isolated CDH.The rest 6 isolated CDH fetuses were term delivered and 5 of them survived after repair of diaphragmatic hernia and one died after birth. Conclusions Left-sided CDH are more common than right-sided ones. Approximately half of the CDH cases are complicated with other malformations,especially cardiovascular abnormalities.The risk of chromosomal abnormalities increases in complex CDH and is relatively low in isolated CDH.The influence of surgical procedure on the prognosis of CDH has not yet determined. Key words: Hernia,diaphragmatic; Ultrasonography,prenatal; Chromosome aberrations

Late presentation of congenital diaphragmatic hernia in patients with cystic fibrosis

Late presentation of congenital diaphragmatic hernia (CDH) is unusual, especially in patients with cystic fibrosis (CF). To our knowledge, cases of CDH in CF patients and the combined effects on lung function have not been previously described. Here we report two cases of late presenting CDH in CF patients and describe effects on lung function. Late presentation of CDH in CF patients can cause gastrointestinal or respiratory symptoms and requires a high index of suspicion as well as proper interpretation of imaging. In patients with CF and CDH, lung function abnormalities could include obstructive, restrictive defects, or combined defects.

Pectus excavatum

One of the more common chest wall anomalies seen in children is pectus excavatum, which may present at birth, or more commonly during the teenage growth spurt. Symptoms of lack of endurance, shortness of breath with exercise, or chest pain are frequent. Although pectus excavatum may be a component of some uncommon syndromes, patients usually are healthy. Evaluation should include careful anatomic description with photographs, radiography to demonstrate the depth of the depression, extent of cardiac compression, or displacement, measurement of pulmonary function. Indications for surgical treatment include two or more of the following: a severe, symptomatic deformity; progression of deformity; paradoxical respiratory chest wall motion; computer tomography scan with a pectus index greater than 3.25; cardiac compression/displacement and/or pulmonary compression; pulmonary restrictive disease; mitral valve prolapse; or failed previous repair(s). The correlation between diaphragmatic hernia and the appearance of pectus excavatum, from etiopathogenesis point of view, may be attributable to several hypotheses: excessive tension in the plastic reconstruction of the diaphragmatic defect; absence of the flexibility of the thoracic cage when goretex patchs are used for the correction of the defect; use of the thoracotomy in the correction of the defect; secondary ipoplasia of the hemithorax due to ipsilateral lung ipoplasia. In our experience 36% of cases of congenital diaphragmatic hernia are complicated by PE.