Bilateral Congenital Diaphragmatic Hernia Research Articles

Predicting neonatal mortality prior to discharge from hospital in prenatally diagnosed left congenital diaphragmatic hernia.

To evaluate the association of standardized prenatal imaging parameters and immediate neonatal variables with mortality prior to discharge in infants with isolated left congenital diaphragmatic hernia (LCDH), and to compare the performance of ultrasound- and magnetic resonance imaging (MRI)-based severity grading for the prediction of neonatal mortality. This was a retrospective study of infants with prenatally diagnosed isolated LCDH referred to a single tertiary center between 2008 and 2020. Fetuses with right or bilateral congenital diaphragmatic hernia, additional major structural anomaly or known genetic condition, as well as cases that underwent fetal intervention or declined postnatal intervention, were excluded. Ultrasound and MRI images were reviewed retrospectively. Univariable and multivariable analyses were performed, incorporating prenatal and immediate neonatal factors to analyze the association with neonatal mortality prior to discharge, and a prediction calculator was generated. The performance of ultrasound and that of MRI for the prediction of neonatal mortality were compared. Of 253 pregnancies with fetal CDH, 104 met the inclusion criteria, of whom 77 (74%) neonates survived to discharge. Seventy-five fetuses underwent both prenatal ultrasound and MRI. On multivariable analysis, observed/expected (o/e) lung-to-head ratio and o/e total fetal lung volume were associated independently with neonatal death (adjusted odds ratio, 0.89 (95% CI, 0.83-0.95) and 0.90 (95% CI, 0.84-0.97), respectively), whereas liver position was not. There was no significant difference in predictive performance between using ultrasound and MRI together (area under the receiver-operating-characteristics curve (AUC), 0.85 (95% CI, 0.76-0.93)) compared with using ultrasound alone (AUC, 0.81 (95% CI, 0.72-0.90); P = 0.19). The addition of neonatal parameters (gestational age at birth and small-for-gestational age) did not improve model performance (AUC, 0.87 (95% CI, 0.80-0.95)) compared with the combined ultrasound and MRI model (P = 0.22). There was poor agreement between severity assessment on ultrasound and MRI (Cohen's κ, 0.19). Most discrepancies were seen among cases deemed to be non-severe on ultrasound and severe on MRI, and outcomes were more consistent with MRI-based prognostication. In fetuses with prenatally diagnosed isolated LCDH, mortality prediction using standardized ultrasound and MRI measurements performed reasonably well. In cases classified as non-severe on ultrasound, MRI is recommended, as it may provide more accurate prognostication and assist in the determination of candidacy for fetal intervention. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Disease severity impacts perceived quality of life in congenital diaphragmatic hernia: a prospective observational study

BackgroundWhile research indicates comparable quality of life (QOL) in congenital diaphragmatic hernia (CDH) and healthy populations, the effect of CDH severity on patients’ health perceptions remains unexplored. We aimed to...

Trisomy 5p with bilateral congenital diaphragmatic hernia: a\xa0case report

BackgroundBilateral congenital diaphragmatic hernia (CDH) is very rare. A few studies have reported the pathogenic role of 5p in CDH.Case presentationA 23-year-old primigravida Japanese woman was referred for the following abnormal findings at 33 weeks of gestation: polyhydramnios, macroglossia, talipes equinovarus, and levocardia. A marker chromosome was detected by amniocentesis. Fluorescence in situ hybridization with whole chromosome paint 5 and nucleolus organizer region probes confirmed its origin from chromosome 5 and an acrocentric chromosome. The karyotype of the fetus was diagnosed as 47, XY, +mar. ish +mar(WCP5+). At 39 + 5 weeks, a 2462 g male infant was delivered, with a specific facial configuration. Bilateral CDH, hypoplasia of the corpus callosum, atrial septal defect, and hypothyroidism were also detected in the baby. The karyotype of the peripheral blood was consistent with that of the amniocentesis.ConclusionGenes coded on 5p might be associated with the pathogenesis of CDH; however, further investigation is required.

Case report of bilateral congenital diaphragmatic hernia in neonate

对广东省妇幼保健院小儿胸外科收治的1例新生儿双侧先天性膈疝(CDH)患儿的临床资料行回顾性分析，患儿，男，8 d，其主要临床特点为出生后呼吸困难进行性加重；查体：面色、口唇苍灰，肢端发绀，呼吸微弱，反应极差。胸廓饱满，双肺呼吸音低，心音低钝。四肢肌张力低，原始反射未引出。胸腹片符合CDH改变。入院后给予呼吸机支持、抗感染等治疗，病情稍稳定后行手术治疗，术后给予抗感染、静脉营养等对症处理，患儿恢复好，治愈出院。提示一旦确诊为双侧CDH，手术仍是其治疗的主要手段。围术期积极改善呼吸循环功能，选择适当手术时机也相当重要。

Bilateral congenital diaphragmatic hernia: prognostic evaluation of a large international cohort

BackgroundCongenital diaphragmatic hernia (CDH) is a lethal birth defect, which occurs in 1:2000–3000 live births. Bilateral CDH is a rare form (1%), with a high mortality. This study presents the outcomes of the largest cohort of bilateral CDH patients. MethodsThe records of patients with bilateral CDH from the Congenital Diaphragmatic Hernia Registry born between 1995 and 2015 were retrospectively analyzed to identify parameters associated with mortality. ResultsEighty patients with a bilateral CDH were identified. Overall mortality was 74% (n=59). Apgar scores at 1 and 5min were statistically lower in the non-survivors compared to the survivors (median 3.0 and 5.0, versus 6.5 and 8.0, respectively, p<0.001). All survivors were repaired (n=21), compared to 22% of the non-survivors (n=17). The type of repair was equally divided in the survivors (52% primary versus 48% patch), while non-survivors were mainly patch repaired (82% versus 12%). Nineteen were treated with extracorporeal membrane oxygenation (ECMO) (24%), only three of them survived. When calculating the risk on mortality for the patients who lived until repair, ECMO had an adjusted odds ratio for mortality of 10.8 (95% CI: 2.0–57.7) and patch repair 5.2 (95% CI: 0.8–34.9). ConclusionsThe treatment of bilateral CDH patients remains challenging with a high mortality rate. Lower Apgar-scores, ECMO (probably as a surrogate for the severity of disease), and patch repair were negatively associated with outcome. Level of evidenceLevel IV study

Рідкісний випадок прижиттєвої пренатальної і ранньої постнатальної діагностики двобічної хибної природженої діафрагмальної грижі в плода і новонародженої дитини

Рідкісний випадок прижиттєвої пренатальної і ранньої постнатальної діагностики двобічної хибної природженої діафрагмальної грижі в плода і новонародженої дитини

Bilateral congenital diaphragmatic hernia: An unsuspecting neonatal emergency

Bilateral congenital diaphragmatic hernia is a major birth defect with poor prognosis. It is an unsuspecting neonatal emergency which poses formidable challenges in initial resuscitation and further management. We describe a case of bilateral congenital diaphragmatic hernia with severe respiratory distress with brief highlights of its management and difficulties encountered.

Neonatal extracorporeal membrane oxygenation: Initial experience of Hospital de São João

The purpose of this series is to report the initial ECMO experience of the Neonatal Intensive Care Unit of Hospital de São João. The first three clinical cases are reported. Case report 1: a 39 weeks gestational age girl with severe lung hypoplasia secondary to a bilateral congenital diaphragmatic hernia. Case report 2: a 39 weeks gestational age girl with a right congenital diaphragmatic hernia and a tracheal stenosis. Case report 3: a 34 weeks gestational age boy, with 61 days of life, with a Bordetella pertussis pneumonia, severe pulmonary hypertension, shock, hyperleukocytosis and seizures.

Neonatal extracorporeal membrane oxygenation: Initial experience of Hospital de São João

The purpose of this series is to report the initial ECMO experience of the Neonatal Intensive Care Unit of Hospital de São João. The first three clinical cases are reported. Case report 1: a 39 weeks gestational age girl with severe lung hypoplasia secondary to a bilateral congenital diaphragmatic hernia. Case report 2: a 39 weeks gestational age girl with a right congenital diaphragmatic hernia and a tracheal stenosis. Case report 3: a 34 weeks gestational age boy, with 61 days of life, with a Bordetella pertussis pneumonia, severe pulmonary hypertension, shock, hyperleukocytosis and seizures.

Late-presenting bilateral congenital diaphragmatic hernia: An extremely rare confluence of two rarities

Late-presenting bilateral congenital diaphragmatic hernia: An extremely rare confluence of two rarities

Familial severe congenital diaphragmatic hernia: Left herniation in one sibling and bilateral herniation in another

Familial congenital diaphragmatic hernia (CDH) is extremely rare; it comprises about 2% of all CDH cases. The empirical risk is about 2%, increasing to 10% in a family with two affected children. This report describes severe CDH in two siblings who had been diagnosed prenatally. The female newborn diagnosed with left CDH prenatally was born at 38 weeks of gestation. Despite surgical repair and intensive treatment, she died 10 days after birth. Her younger brother was born at 39 weeks of gestation after being diagnosed with bilateral CDH prenatally, and died 75 min after birth. Both infants had neither other congenital anomaly nor chromosomal abnormalities. Their parents are healthy without consanguinity. Their first daughter and the fourth child have no congenital anomalies.

Bilateral Congenital Diaphragmatic Hernia with Delayed Diagnosis

Bilateral Congenital Diaphragmatic Hernia with Delayed Diagnosis

Ultrasound and MR images of prenatally diagnosed bilateral congenital diaphragmatic hernia, a rare variation of CDH

The patient referred to our hospital at 29 weeks. The detailed ultrasound study demonstrated the stomach behind the heart, the slight deviation of the heart, and the vascular connection between the right chest organ and inferior vena cava. Bilateral congenital diaphragmatic hernia was suggested and confirmed by magnetic resonance imaging. A baby was delivered at 37 weeks and immediately placed on high-frequency oscillation ventilation. Although a surgical correction of the bilateral hernia under extracorporeal membrane oxygenation was completed, he expired at 14 h of age.

Successful thoracoscopic staged repair of bilateral congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) occurs in 1 of every 2000 to 3000 live births and accounts for 8% of all major congenital anomalies. Bilateral hernias account for no more than 1% of all types of CDH; furthermore, they are usually fatal prenatally. Those that survive are identified through a limited number of case reports. We are presenting an unusual case of bilateral CDH hernia in a neonate that was repaired successfully using a staged thoracoscopic approach. To our knowledge, this represents the first case in the world literature of bilateral CDH that was repaired thoracoscopically. In carefully selected patients, appropriate use of disruptive new technologies such as thoracoscopy can be achieved.

Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion

To examine operative and perinatal aspects of fetal endoscopic tracheal occlusion (FETO) in congenital diaphragmatic hernia (CDH). This was a multicenter study of singleton pregnancies with CDH treated by FETO. The entry criteria for FETO were severe CDH on the basis of sonographic evidence of intrathoracic herniation of the liver and low lung area to head circumference ratio (LHR) defined as the observed to the expected normal mean for gestation (o/e LHR) equivalent to an LHR of 1 or less. FETO was carried out in 210 cases, including 175 cases with left-sided, 34 right-sided and one with bilateral CDH. In 188 cases the CDH was isolated and in 22 there was an associated defect. FETO was performed at a median gestational age of 27.1 (range, 23.0-33.3) weeks. The first eight cases were done under general anesthesia, but subsequently either regional or local anesthesia was used. The median duration of FETO was 10 (range, 3-93) min. Successful placement of the balloon at the first procedure was achieved in 203 (96.7%) cases. Spontaneous preterm prelabor rupture of membranes (PPROM) occurred in 99 (47.1%) cases at 3-83 (median, 30) days after FETO and within 3 weeks of the procedure in 35 (16.7%) cases. Removal of the balloon was prenatal either by fetoscopy or ultrasound-guided puncture, intrapartum by ex-utero intrapartum treatment, or postnatal either by tracheoscopy or percutaneous puncture. Delivery was at 25.7-41.0 (median, 35.3) weeks and before 34 weeks in 65 (30.9%) cases. In 204 (97.1%) cases the babies were live born and 98 (48.0%) were discharged from the hospital alive. There were 10 deaths directly related to difficulties with removal of the balloon. Significant prediction of survival was provided by the o/e LHR and gestational age at delivery. On the basis of the relationship between survival and o/e LHR in expectantly managed fetuses with CDH, as reported in the antenatal CDH registry, we estimated that in fetuses with left CDH treated with FETO the survival rate increased from 24.1% to 49.1%, and in right CDH survival increased from 0% to 35.3% (P < 0.001). FETO in severe CDH is associated with a high incidence of PPROM and preterm delivery but a substantial improvement in survival.

Diagnóstico prenatal de hernia diafragmática congénita bilateral

Congenital diaphragmatic hernia is the most frequent diaphragmatic malformation. There are three types of this defect, depending on location:left (the most frequent), right and bilateral. We report a case of a bilateral congenital diaphragmatic hernia, which was diagnosed in the 31st week of pregnancy. Ultrasonographic diagnosis is complex. Bilateral hernia is rare and implies a worse prognosis.

Bilateral congenital diaphragmatic hernia and gastroschisis in a newborn: can low intrathoracic pressure prevent the pulmonary hypoplasia?

Congenital diaphragmatic hernia (CDH) is associated with high mortality and morbidity due to pulmonary hypoplasia (PH) and persistent pulmonary hypertension (PPH). Bilateral CDH is extremely rare with poor prognosis. It is usually accepted that PH in CDH is due to the herniation of abdominal viscera in the thorax leading to compression of the lung and preventing the normal lung development. On the other hand, some authors suggest that the PH occurs independently from the intrathoracic pressure in foetuses with CDH because of embryologic and genetic factors. We report a case of a newborn with bilateral CDH and gastroschisis born without PH, with favourable outcome. We support the hypothesis that a low intrathoracic pressure in patients with CDH allows an improved lung development.

P-262A A case of bilateral congenital diaphragmatic hernia associated with supraumbilical omphalocele and lower sternal cleft(Newborn surgery 1, the 44th Annual Meeting of Japanese Society of Pediatric Surgeons)

P-262A A case of bilateral congenital diaphragmatic hernia associated with supraumbilical omphalocele and lower sternal cleft(Newborn surgery 1, the 44th Annual Meeting of Japanese Society of Pediatric Surgeons)

Prenatal diagnosis of bilateral diaphragmatic hernia by fetal sonography

This report describes a case of prenatally diagnosed bilateral diaphragmatic hernia. At 22 weeks' gestation, ultrasound revealed a cystic structure behind the fetus's heart on the axial image at the level of the cardiac four-chamber view. This suggested a left-sided congenital diaphragmatic hernia with herniation of the stomach into the left hemithorax. However, the left-to-right midline shift of the heart was minimal, which is not typical of left-sided congenital diaphragmatic hernia. Throughout the 30th week of gestation, the right and left branches of the pulmonary artery were hypoplastic compared with the values in normal fetuses of the same gestational age. The presumptive diagnosis was bilateral congenital diaphragmatic hernia. A female newborn weighing 2900 g was delivered at 37 weeks' gestation, and she died at 7 h of age. An autopsy revealed large defects on both sides of the diaphragm. In conclusion, prenatal diagnosis of bilateral diaphragmatic hernia is possible with fetal sonography.

Bilateral congenital diaphragmatic hernia with absent pleura and pericardium

Bilateral congenital diaphragmatic hernia is a rare form of diaphragmatic hernia. Independently, pericardial defects are an extremely rare phenomenon. In the case presented, we provide the first complete description of an infant with bilateral congenital diaphragmatic hernia with complete agenesis of the pericardium and inferior parietal pleura. A male infant was born at 38 weeks of gestation with a prenatal diagnosis of left-sided congenital diaphragmatic hernia. After 1 week of aggressive management, the patient was taken to the operating room for repair. Intraoperatively, the patient was found to have absence of the diaphragm bilaterally, no pleura inferiorly, and no pericardium. A biological mesh was used to construct a diaphragm. At 6 months of age, the patient is growing normally, requiring only supplemental oxygen without pressure support. Embryologically, this anomaly represents complete lack of development of the pleurocardial folds, pleuroperitoneal folds, and transverse septum, which is previously unreported.