Familial congenital diaphragmatic hernia: Prenatal diagnosis,management, and outcome

Congenital diaphragmatic hernia (CDH) is a developmental defect of as yet unknown aetiology which accounts for 8 per cent of all major congenital anomalies and is associated with up to 80 per cent mortality despite optimal postnatal treatment. The risk of recurrence of CDH for future sibs after one affected infant is about 2 per cent. A multifactorial/threshold inheritance pattern with an observed high male:female sex ratio is currently favoured for the rare occurrence of familial CDH, although other modes of inheritance have also been described. We report three cases of familial CDH, two of whom were brother and sister sibs and the third was a first cousin, born within 18 months of each other. The diagnosis was by ultrasound and there were several factors predicting a poor outcome. The mortality in this group was 100 per cent. The prenatal diagnosis, treatment options, the unusual genetic aspects, outcome, and the pathology involved are discussed.     

Postnatal management and long-term outcome for survivors with congenital diaphragmatic hernia

Significant advances in the postnatal management of patients with congenital diaphragmatic hernia (CDH) have resulted in a remarkable improvement in survival rates over the past two decades. The success of current postnatal management of CDH patients has rendered fetal intervention to be limited to the most severe cases, and the role for prenatal treatment of CDH patients remains unclear. The adoption of lung-preserving strategies including high-frequency oscillatory ventilation (HFOV) and extracorporeal membrane oxygenation (ECMO) have improved CDH outcomes especially in those patients with significant ventilatory or circulatory compromise. Survival rates of up to 90% are being reported in some high-volume centers. However, the increased survival in CDH patients has been accompanied by an increase in neurological, nutritional and musculoskeletal morbidity among the long-term survivors. This has resulted in the need to provide resources for the long-term follow-up and support of this patient population. In this article, the postnatal management strategies and primary and secondary outcomes of high-volume international pediatric surgical centers will be reviewed. Finally, the role of a multidisciplinary management team for the follow-up of long-term CDH survivors will be discussed. Copyright © 2008 John Wiley & Sons, Ltd.     

Prenatal diagnosis of congenital diaphragmatic hernia: Timing of visceral herniation and outcome

Ultrasonographic prenatal diagnosis of congenital diaphragmatic hernia is well established, but the correlation of prenatal detection with clinical outcome remains unclear. We report our experience with 15 cases of prenatally diagnosed congenital diaphragmatic hernia. Seven fetuses were detected at 14–16 weeks' gestation; two with a normal sonographic study at 15 and 16 weeks' gestation showed visceral herniation at 21 and 23 weeks, respectively. In the remaining six cases, a diaphragmatic hernia was found at ultrasonography after 24 weeks' gestation, while previous sonographic studies had been normal. All seven fetuses in whom a diaphragmatic hernia was diagnosed before 16 weeks' gestation were aborted; four of them had severe malformations or karyotype abnormalities. The two neonates who were diagnosed at 21 and 23 weeks' gestation died after surgical repair. In contrast, all six infants whose visceral herniation was diagnosed after 24 weeks of gestation, and whose sonographic studies at 15–23 weeks had been normal, are alive and well after corrective surgery. The results of this series suggest that the timing of visceral herniation into the thoracic cavity is a major indicator of the prognosis of these fetuses and that herniation that occurs after 25 weeks of gestation carries a favourable clinical outcome. Normal sonographic studies during the first half of pregnancy do not exclude the subsequent development of congenital diaphragmatic hernia, raising questions about the advisability of repeat examinations at later stages of gestation.     

Prenatal diagnosis,prediction of outcome and in utero therapy of isolated congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) can be associated with genetic or structural anomalies with poor prognosis. In isolated cases, survival is dependent on the degree of lung hypoplasia and liver position. Cases should be referred in utero to tertiary care centers familiar with this condition both for prediction of outcome as well as timed delivery. The best validated prognostic indicator is the lung area to head circumference ratio. Ultrasound is used to measure the lung area of the index case, which is then expressed as a proportion of what is expected normally (observed/expected LHR). When O/E LHR is < 25% survival chances are < 15%. Prenatal intervention, aiming to stimulate lung growth, can be achieved by temporary fetal endoscopic tracheal occlusion (FETO). A balloon is percutaneously inserted into the trachea at 26–28 weeks, and reversal of occlusion is planned at 34 weeks. Growing experience has demonstrated the feasibility and safety of the technique with a survival rate of about 50%. The lung response to, and outcome after FETO, is dependent on pre-existing lung size as well gestational age at birth. Early data show that FETO does not increase morbidity in survivors, when compared to historical controls. Several trials are currently under design. Copyright © 2008 John Wiley & Sons, Ltd.     

Cystic hygroma and congenital diaphragmatic hernia: Early prenatal sonographic evaluation of Fryns' syndrome

We report a case of cystic hygroma and diffuse lymphangiectasia detected by sonogram at 12 weeks' gestation. Fetal karyotype was normal. At 20 weeks' gestation, herniation of the bowel into the chest was noted. At delivery, the infant was diagnosed as having Fryns' syndrome. This is the first reported case of Fryns' syndrome presenting with cystic hygroma.     

Prenatal diagnosis of congenital diaphragmatic hernia: A retrospective analysis of 28 cases

In a retrospective analysis of 28 cases of fetal diaphragmatic hernia, overall mortality was 86 per cent, but fell to 70 per cent when multiple anomalies were excluded. Congenital heart disease constituted the majority of associated anomalies. The incidence of an abnormal karyotype was 10·5 per cent, but rose to 20 per cent when only fetuses with multiple anomalies were included. Polyhydramnios, which occurred in 75 per cent, was a poor predictor of fetal outcome. The same applied to the intrathoracic position of the fetal stomach. In all four survivors, diaphragmatic hernia was diagnosed beyond 32 weeks of gestation.     

Prenatal assessment of pulmonary vasculature development in fetuses with congenital diaphragmatic hernia: A literature review

Pathophysiological studies have shown that pulmonary vascular development is impaired in fetuses with a congenital diaphragmatic hernia (CDH), leading to a simplified vascular tree and increased vascular resistance. Multiple studies have described prenatal ultrasound parameters for the assessment of the pulmonary vasculature, but none of these parameters are used in daily clinical practice. We provide a comprehensive review of the literature published between January 1990 and February 2022 describing these parameters, and aim to explain the clinical relevance of these parameters from what is known from pathophysiological studies. Prenatal detection of a smaller diameter of the contralateral (i.e. contralateral to the diaphragmatic defect) first branch of the pulmonary artery (PA), higher pulsatility indices (PI), higher peak early diastolic reverse flow values, and a lower vascularization index seem of added value for the prediction of survival and, to a lesser extent, morbidity. Integration within the routine evaluation is complicated by the lack of uniformity of the methods used. To address the main components of the pathophysiological changes, we recommend future prenatal studies in CDH with a focus on PI values, PA diameters and pulmonary vascular branching.     

Neonatal outcomes of congenital diaphragmatic hernia in full term versus early term deliveries: A systematic review and meta-analysis

This systematic review and meta-analysis aimed to review the optimal timing of delivery at term for neonates with prenatally diagnosed congenital diaphragmatic hernia (CDH). We reviewed the literature up to December 19, 2022 using MEDLINE and the Cochrane Library databases. The inclusion criteria were original articles, comparative studies of CDH neonates delivered at an early term (37–38 weeks of gestation) and at full term (39 weeks of gestation or later), and comparative studies investigating outcomes of CDH neonates. Six studies met the inclusion criteria, including 985 neonates delivered at an early term and 629 delivered at full term. The cumulative rate of survival to discharge showed no significant difference between CDH neonates delivered at an early term (395/515; 76.7%) or at full term (345/467; 73.9%) (risk ratio [RR] 1.01; 95% confidence interval [CI], 0.89–1.16; p = 0.85). Furthermore, the number of neonates requiring oxygen therapy at discharge was not significantly different between CDH neonates delivered at an early term (32/370; 8.6%) and at full term (14/154; 9.1%) (RR, 0.99; 95% CI, 0.36–2.70; p = 0.99). Therefore, the optimal timing of delivery at term for neonates with CDH remains unclear.