Congenital diaphragmatic hernia: Treatment and outcomes

Congenital diaphragmatic hernia (CDH) is a congenital defect in the diaphragm that allows herniation of abdominal contents into the fetal chest and leads to varying degrees of pulmonary hypoplasia and pulmonary hypertension. Advances in prenatal diagnosis and the institution of standardized delivery and postnatal care protocols have led to improved survival. Fetal endoscopic tracheal occlusion shows early promise for patients with the most severe CDH, but prospective randomized data is still required. CDH survivors have a variety of associated morbidities that require long-term follow-up and early intervention strategies for optimal care.     

Fetal lung volume measurement by magnetic resonance imaging in congenital diaphragmatic hernia

Objective To study the potential for prenatal magnetic resonance imaging to predict pulmonary hypoplasia in congenital diaphragmatic hernia.
Design Prospective observational study.
Setting Tertiary care centre.
Participants Thirteen cases of congenital diaphragmatic hernia (11 left, 2 right) without associated anomalies and 74 controls.
Methods Measurements by magnetic resonance imaging of fetal lung volume were achieved. In the control fetuses, a regression analysis was performed to associate fetal lung volume with gestational age. This yielded a formula allowing calculation of the expected fetal lung volume as a function of gestational age. In the cases with congenital diaphragmatic hernia, the observed/expected fetal lung volume ratio was compared with perinatal outcome.
Main outcome measures Neonatal mortality and pulmonary hypoplasia, which was defined as lung/body weight ratios less than 0.012.
Results The expected fetal lung volume was derived from the following formula: Fetal lung volume (mL) = exp (1.24722 + 0.08939 × gestational age in weeks). The observed/expected fetal lung volume ratio was significantly lower in congenital diaphragmatic hernia (median: 0.31, range: 0.06–0.63), than in controls (median: 0.99, range: 0.42–1.94). This ratio was significantly less in the infants with congenital diaphragmatic hernia who died (median: 0.26, range: 0.06–0.63) compared with those who survived (median: 0.46, range: 0.35–0.56). The observed: expected fetal lung volume ratio was significantly correlated with the post mortem lung: body weight ratio.
Conclusion In isolated congenital diaphragmatic hernia, fetal lung volume measurement by magnetic resonance imaging is a potential predictor of pulmonary hypoplasia and postnatal outcome. Further studies are required to establish the clinical value of magnetic resonance imaging for the prenatal assessment of fetal lungs.     

Prediction of outcome in isolated congenital diaphragmatic hernia and its consequences for fetal therapy

Congenital diaphragmatic hernia (CDH) can be diagnosed in the prenatal period either as part of other anomalies or as an isolated birth defect. The clinical impact of this surgically correctable anatomical defect lies in its impairment of lung development. Currently, up to 30% of babies with isolated CDH die from the consequences of lung hypoplasia and/or pulmonary hypertension. Antenatal prediction of outcome essentially relies on the measurement of lung development by the so-called lung area to head circumference ratio (LHR). By expressing observed LHR as a proportion of what is normally expected (O/E LHR) at a certain time point in gestation, a prediction of outcome can be made. When O/E LHR is less than 25% of the normal, postnatal death is very likely. In these cases, an antenatal intervention that can improve lung development is currently offered. Currently, this is done by percutaneous fetal endoscopic tracheal occlusion (FETO) with a balloon at 26-28 weeks, and reversal of occlusion at 34 weeks. The feasibility and safety of percutaneous FETO have been established and the procedure seems to improve outcome in severe CDH. The lung response to, and outcome after, FETO depend on pre-existing lung size respectively gestational age at birth. Prenatal decision making can therefore be stratified according to measured lung size.     

The prenatal diagnosis of cloacal dysgenesis sequence in six cases: can the termination of pregnancy always be the first choice?

OBJECTIVE: Cloacal dysgenesis sequence is a lethal malformation, which usually requires termination. In this study, our aim was to evaluate the prenatal and postnatal diagnostic features of cloacal dysgenesis sequence and review the management of the patients. MATERIAL AND METHODS: The data of six cases of cloacal dysgenesis sequences were collected from the ultrasonography and neonatal records. The findings were evaluated in prenatal and postnatal periods. Chromosomal analysis was performed in all the cases. The evaluation of primary and secondary malformations was done. Coexisting anomalies were searched for by radiology and histopathology. RESULTS: Malformations in six cases (two females and four males) were described. The absence of anal, genital, and urinary openings with intact perineum covered by smooth skin were common findings. These features were considered as primary malformations for cloacal dysgenesis sequence. Secondary anomalies (urinary and gastrointestinal system malformations, pulmonary hypoplasia, and other coexisting anomalies) were evaluated. CONCLUSION: The prenatal differential diagnosis of cloacal dysgenesis sequence from other urinary obstructive diseases was essential regarding fetal prognosis, prenatal, and neonatal management. The bladder outlet obstruction and pulmonary hypoplasia due to reduced amniotic fluid and/or kidney disease were considered prognostic factors for neonatal death. Termination of pregnancy is almost always recommended instead of intrauterine shunt procedures; but if we take into consideration one of our cases and a few reported cases who survived in the neonatal period, the prenatal management of these pregnancies needs to be reevaluated.     

Prenatal detection of pulmonary hypoplasia in fetuses with congenital diaphragmatic hernia: A systematic review and meta-analysis of diagnostic studies

Background.?Fetuses with congenital diaphragmatic hernia (CDH) are at risk of death from pulmonary hypoplasia at birth.

Objective.?To determine the value of prenatal imaging parameters for predicting lethal pulmonary hypoplasia in fetuses with CDH.

Search strategy.?Relevant papers were identified by searching MEDLINE (1966–2008), EMBASE (1988–2008) and the Cochrane Library (2008 issue 3).

Selection criteria.?Selected studies examined diagnostic tests for the prenatal prediction of lethal pulmonary hypoplasia in fetuses with CDH. The primary outcome measure was perinatal survival.

Results. Twenty-one studies fulfilled the entry criteria, of which six examined entirely unique heterogeneous parameters and the remaining 15 examined lung–head ratios (LHR) and/or the presence of liver in the fetal thorax. The strongest association was that of LHR?≥?0.6 compared to?<0.6 (OR: 17.02; 95% CI: 2.10–137.89), although more clinically relevant was that of LHR?>1.0 (OR: 5.07; 95% CI: 2.94–8.74). The finding of liver in the fetal chest was a poor prognostic feature (survival OR: 0.32; 95% CI: 0.21–0.49).

Conclusion.?In CDH, LHR and the presence of liver in the fetal thorax may be a useful predictive indicator of perinatal survival. Future usage of developing techniques needs careful evaluation prior to usage to guide therapy.     

Congenital diaphragmatic hernia-associated pulmonary hypertension

Congenital diaphragmatic hernia (CDH) is a neonatal pathology in which intrathoracic herniation of abdominal viscera via diaphragmatic defect results in aberrant pulmonary and cardiovascular development. Despite decades of study and many advances in the diagnosis and treatment of CDH, morbidity and mortality remain high, largely due to pulmonary hypertension (PH), along with pulmonary hypoplasia and cardiac dysfunction. In patients with CDH, hypoplastic pulmonary vasculature and alterations in multiple molecular pathways lead to pathophysiologic pulmonary vasculopathy and, for severe CDH, sustained, elevated pulmonary arterial pressures. This review addresses the multiple anatomic and physiologic changes that underlie CDH-associated PH (CDH-PH), along with the multimodal treatment strategies that exist currently and future therapies currently under investigation.     

Associated malformations in congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a severe neonatal anomaly. The aim of this study was to evaluate the frequency and types of malformations associated with CDH. The outcome was compared with that in newborns with CDH alone. The study included 362 fetuses and newborns at a single national center for CDH. Associated malformations and chromosomal aberrations were noted prenatally and postnatally. The neonatal outcome was assessed relative to the use of extracorporeal membrane oxygenation (ECMO) and the mortality rate. At least one associated malformation was diagnosed in 143 cases (39.5%). Altogether, 272 associated malformations were found. Only 50 (18.4%) anomalies were diagnosed antenatally. In 62 (17.1%) cases, 102 major malformations were found along with CDH, with a prenatal detection rate of 35.3%. The associated malformations were very heterogeneous, but cardiovascular malformations were the most common. Newborns with major anomalies, chromosomal aberrations, or syndromes additional to CDH had a significantly lower survival rate than newborns with an isolated CDH. Associated malformations did not affect the rate of ECMO treatment. Associated malformations in CDH are frequent and heterogeneous, and diligent and experienced antenatal and postnatal care is important.     

What should we tell parents? Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is characterized by a defect in the muscle dividing the thoracic and abdominal cavities. This leads to herniation of the abdominal organs into the thorax and a disturbance of lung development. Two-thirds of cases are identified by prenatal ultrasound in the second trimester, which should prompt referral to a tertiary center for prognosis assessment and counseling by a multidisciplinary team familiar with this condition. In this review, we summarize evidence on prenatal diagnosis and postnatal management of CDH. There is a focus on information that should be provided to expecting parents during prenatal counseling.     

Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. A population-based study

OBJECTIVES: To estimate the prognosis of prenatally diagnosed isolated congenital diaphragmatic hernia (PDICDH) treated with 'immediate planned care' (IPC) between 1999 and 2003 in Eastern Brittany. METHODS: The prognosis of PDICDH was compared with the prognosis of the other live-born CDH, either prenatally undiagnosed or not having had IPC. IPC consisted in prenatal lung maturation with corticosteroids, elective caesarean section at 37 weeks, immediate intubation, surfactant, high- frequency ventilation or oscillation, nitric oxide, intravenous prostacyclin, anaesthesia and haemodynamic support. Surgical repair was performed in the NICU 34 h after birth. RESULTS: The incidence of CDH was 0.8 per thousand with a prenatal diagnosis rate of 27/30 (90%), leading to a termination of pregnancy in nine cases. Ten CDH were associated with other malformations. IPC in PDICDH was performed in 12 cases. The survival rate of PDICDH with IPC was 11/12 versus 1/9 in CDH with no IPC or no prenatal diagnosis (p < 0.01). Logistic regression analysis showed that IPC was determinant for survival (p < 0.01). CONCLUSION: Prenatal diagnosis of isolated CDH treated with immediate planned care is associated with a high survival rate. This suggests that prenatal diagnosis associated with specifically adapted postnatal procedure may improve the prognosis of isolated CDH.     

Fetal pulmonary artery diameters and their association with lung hypoplasia and postnatal outcome in congenital diaphragmatic hernia

OBJECTIVE: We hypothesized that fetal branch pulmonary artery (PA) diameters indirectly reflect lung mass and are associated with postnatal outcome in cases of isolated congenital diaphragmatic hernia (CDH). STUDY DESIGN: We retrospectively reviewed echocardiograms of fetuses with CDH, measuring branch PA diameters and other echocardiographic parameters. Antenatal parameters were correlated with postmortem lung weights in 5 fetuses after pregnancy termination. Fetal echocardiographic measures were correlated with outcome variables in 29 live-born infants with CDH to identify antenatal indices associated with postnatal death and respiratory morbidity. RESULTS: Antenatal branch PA size correlated with postmortem lung weights from 5 terminated fetuses (r = 0.87). In 26 cases of left CDH in which the fetus continued to term, the ipsilateral branch PA diameter was significantly smaller than the contralateral branch PA diameter at presentation (P <.001). In these fetuses, a larger contralateral PA diameter was associated with worse postnatal survival (P =.049). Among survivors with left CDH, the main PA z score and the discrepancy between right and left PA diameters correlated positively with duration of supplemental oxygen requirement (P =.019 and P =.022, respectively) and ventilation (P =.036 and P =.012, respectively). Serial antenatal studies in 8 of 10 cases revealed progressive ipsilateral PA hypoplasia. CONCLUSION: Antenatal branch PA size correlates with postmortem lung weight. A larger contralateral PA, and significant branch PA discrepancy and larger main PA diameter, best correlate with postnatal death and respiratory morbidity, respectively. Progressive ipsilateral PA hypoplasia suggests progressive in utero lung hypoplasia in cases of CDH.     

Extracorporeal membrane oxygenation in infants with congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly which impairs normal pulmonary development leading to acute and chronic respiratory failure, pulmonary hypoplasia, pulmonary hypertension, and mortality. CDH is the most common non-cardiac indication for neonatal ECMO. Prenatal and postnatal predictors of CDH severity aid in patient selection. Centers vary in preferred mode of ECMO and timing of CDH repair. Survivors of severe CDH with ECMO are at risk for long-term sequelae including neurodevelopmental delays.     

Prenatal diagnosis and management of some fetal intrathoracic abnormalities

Nine cases of fetal intrathoracic anomalies detected in utero and followed to birth are reviewed. There were 6 congenital diaphragmatic hernias (CDH), one congenital pleural effusion and two isolated cysts of the lung. All these conditions were potentially responsible for neonatal respiratory distress and received early intensive treatment after maternal transport and delivery had been arranged in a center with thoracic surgical facilities available. The risks of a delayed or missed diagnosis were thus avoided, especially for CDH. Despite intensive, traditional, respiratory support, started in the delivery room, mortality among prenatally detected cases of CDH was paradoxically high (83%), compared to mortality among 7 cases of CDH not detected in utero, referred in the same period to our Institution, and symptomatic within 6 h from birth (63%). With prenatal diagnosis the total number of CDH cases referred to a surgical center before birth increases. Many cases which would never have been treated in the past because of death before referral and treatment for severe pulmonary hypoplasia not compatible with life are thus observed and sometimes treated. Nevertheless, lung development continues to be a determining factor for survival even when intensive treatment at birth is available. Responsiveness to therapy is unpredictable before birth and proposed antenatal treatment is still far from being a realistic option. For the other three newborns, where a pleural effusion and pulmonary cysts were found, prenatal diagnosis helped to start appropriate treatment and to prevent neonatal hypoxia in two of them. In the third case, with an incommunicant, isolated pulmonary cyst, the outcome would have been favourable even without a prenatal diagnosis.     

Fetal lung regeneration using stem cell-derived extracellular vesicles: A new frontier for pulmonary hypoplasia secondary to congenital diaphragmatic hernia

The poor outcomes of babies with congenital diaphragmatic hernia (CDH) are directly related to pulmonary hypoplasia, a condition characterized by impaired lung development. Although the pathogenesis of pulmonary hypoplasia is not fully elucidated, there is now evidence that CDH patients have missing or dysregulated microRNAs (miRNAs) that regulate lung development. A prenatal therapy that supplements these missing/dysregulated miRNAs could be a strategy to rescue normal lung development. Extracellular vesicles (EVs), also known as exosomes when of small dimensions, are lipid-bound nanoparticles that can transfer their heterogeneous cargo (proteins, lipids, small RNAs) to target cells to induce biological responses. Herein, we review all studies that show evidence for stem cell-derived EVs as a regenerative therapy to rescue normal development in CDH fetal lungs. Particularly, we report studies showing that administration of EVs derived from amniotic fluid stem cells (AFSC-EVs) to models of pulmonary hypoplasia promotes fetal lung growth and maturation via transfer of miRNAs that are known to regulate lung developmental processes. We also describe that stem cell-derived EVs exert effects on vascular remodeling, thus possibly preventing postnatal pulmonary hypertension. Finally, we discuss future perspectives and challenges to translate this promising stem cell EV-based therapy to clinical practice.     

Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne, France

OBJECTIVE: To evaluate the detection rate of prenatal diagnosis and its impact on outcome in congenital diaphragmatic hernia (CDH). STUDY DESIGN: We retrospectively studied 51 cases of CDH registered in the Auvergne area from January 1992 to December 2003 (Birth Defect Registry of Auvergne, Institut Européen des Génomutations). Our main outcome measurements were the detection rate of prenatal diagnosis, the incidence and types of associated anomalies and outcome (termination of pregnancy, in utero fetal demise, neonatal death, survival at the time of registration). RESULTS: Twenty-nine cases of isolated CDH were identified of which 13 were detected prenatally (45%) at a mean gestational age of 26.1 weeks and 22 cases of CDH with associated anomalies with prenatal diagnosis of CDH or any associated anomaly in 16 (73%; p=0.03) at a mean gestational age of 23.9 weeks. In the prenatally detected group (29 cases), there was 1 (3%) in utero fetal death (IUFD), 17 (59%) terminations of pregnancy (TOP) and 11 (38%) live births with early neonatal death in 7 (24%) cases despite delivery in a tertiary care centre in 10/11 cases (four survivors=14%). Most of the undetected cases were isolated CDH (16/22=73%) of which 1 (5%) was a stillborn and 21 (95%) live births with 17 survivors (77%) although 15/21 (71%) were not born at the tertiary care centre (p=0.001). The overall survival rate was 41% with a large variability depending on associated anomalies and prenatal diagnosis (p<0.0001) (prenatally detected cases: 3/13 (23%) isolated CDH and 1/16 (6%) CDH with associated anomalies; undetected cases: 13/16 (81%) isolated CDH and 4/6 (67%) CDH with associated anomalies). CONCLUSION: Prenatal diagnosis of CDH leads to the delivery of affected babies in tertiary care centres but it remains a challenge in particular for isolated CDH cases and it is associated with a lower survival rate. Associated anomalies contribute to prenatal detection, are related to a higher TOP rate but do not facilitate the detection of diaphragmatic defect per se.     

Congenital diaphragmatic hernia, etiology and management, a 10-year analysis of a single center

Objective To analyze congenital diaphragmatic hernia (CDH) during a 10-year period at the University of Kiel, from 1995 through 2004, in order to develop a strategy to improve prenatal diagnosis, to be able to consider endoscopical treatment for selected cases and to assess the current postnatal treatment strategies. Methods Data were obtained from the fetal medicine ultrasound department, from the birth registry, from the postmortem registry, from the neonatal intensive care unit, from pediatric surgery and from the genetic database. Data were subselected for chromosomes, genetic syndromes, for isolated CDH and for associated anomalies, the lung to head ratio and lung volumes were assessed. Data were analyzed respectively for gestation at diagnosis, the type of CDH, the perinatal management and the postnatal outcome. Results There were 29 cases of CDH, in 10/29 (34%) the parents requested termination of pregnancy of which two had already died during pregnancy, 12/19 (63%) survived, which was defined as discharge from the neonatal intensive care unit, seven newborns 7/19 (37%) died in the hospital, 5 of these 5/7 (71%) were delivered in Kiel. A prenatal diagnosis was performed in 16/29 (55%), 1/16 (6%), 7/16 (43%) and 8/16 (50%) in the 1st, 2nd and 3rd trimester, respectively; in 10/29 (34%) diagnosis was performed postpartum, in 3/29 (10%) the diagnosis was performed at autopsy following termination of pregnancy. When the liver was in the abdomen, 9/10 (90%) of the children survived, compared to only 3/8 (43%) when the liver was located in the thorax. A lung to head ratio of 0.81 at 24 weeks resulted in death due to pulmonary hypoplasia. Conclusions The overall survival in CDH is around 50%, antenatal endoscopical therapy may only be considered, if the diagnosis is performed in the early second trimester, and selection criteria such as the lung to head ratio, associated defects and the chromosomal status can be applied.     

Congenital diaphragmatic hernia--diagnostic and therapeutic procedures

Congenital diaphragmatic hernia (CDH) is connected with a high risk of neonatal mortality and morbidity, which are caused mostly by lung hypoplasia. Frequency of these congenital malformations is 1: 2000-3000 live birth. CDH can be isolated, but in as many as 23% of cases, it co-exists with other fetal anomalies. Moreover, in 12% of cases it may be connected with genetically determined syndromes. Ultrasonographic diagnostics, especially in isolated CDH cases, is very difficult so that pregnant women must very often be admitted to perinatal 3rd references center. The first symptom to suggest CDH is polyhydramnios appearing between the 2nd and 3rd trimester of pregnancy. Appropriate prenatal diagnosis, delivery at a specialized perinatal center, and well-prepared neonatal, anaesthesiological and surgical teams significantly improve the survival rate and increase the likelihood of the proper development of newborn infants. The aim of this paper is the presentation of the case of a newborn diagnosed with intrauterine CDH who, upon delivery at 34th week of gestation, was admitted to the Department of Child Surgery, and after surgical procedures, was discharged in a healthy condition.     

Efficiency and side effects of antiretroviral treatment of HIV infected pregnant women

OBJECTIVE: Antiretroviral treatment (ART) of pregnant women and newborn reduces the vertical HIV transmission below 2 % but long term effects are still not clear. METHOD: We analyzed the data of 59 children born to HIV infected women. RESULTS: The median observation time was 404 (14-740) days. There was no vertical HIV transmission (95 %-confidence interval [CI] 0-5.1 %). Among 6 children without prenatal ART one child with congenital diaphragmatic hernia was born. In 53 infants with prenatal ART we observed 19 congenital malformations (35.8 %, 95 %-CI 23.2-50.6 %). Three were severe malformations (5.7 %, 95 %-CI 1.2-15.5 %): one supraorbital hemangioma (after zidovudine), one athetoid cerebral palsy without evidence of mitochondrial dysfunction (after zidovudine), and one unilateral femoral hypoplasia (after short term zidovudine, lamivudine, and efavirenz in late pregnancy). Sixteen minor malformations were found (30.1 %, 95 %-CI 21.2-43.8 %): ventricular septal defect (closed spontaneously after 6 months), atrial septal defect, transient and persistent pulmonary stenoses, hexadactylies, unilateral hearing impairment, dystopic kidney, subependymal bleeding cysts, and mild dilation of ventricles. CONCLUSIONS: ART prevents vertical HIV transmission. All women should be advised ART during pregnancy and delivery. The prevalence of malformations after prenatal/perinatal ART appears considerably high. Therefore, detailed information for the parents and long term follow-up of all children exposed to antiretroviral drugs are crucial.     

Evaluation of the development of lung hypoplasia in the premature lamb

Background The death rate from human diaphragmatic hernia (CDH) ranges from 50 to 80%, mainly due to the associated lung hypoplasia. To prevent these irreversible pathological and physical defects, the question of intrauterine surgical intervention arises. The histological changes of the lung tissue after inducement of a diaphragmatic hernia were examined. Of special interest was the time elapsing until the development of lung hypoplasia.Methods A model of intrauterine inducement of diaphragmatic hernia was established using five fetal lambs to study consecutive pulmonary hypoplasia. Inducement of a diaphragmatic hernia was undertaken between 105 and 108 days gestation. Lung tissue was examined histologically on postoperative days 8, 17, 21, 22, and 25 after inducement of the defect.Results On postoperative days 8, 17, and 21, no signs of pulmonary hypoplasia were found on histological examination. A pulmonary hypoplasia was found in two fetuses (on the 22nd and 25th postoperative day). The pathological and anatomical examination of a unilateral pulmonary hypoplasia after a short period of time shows that the artificially created diaphragmatic defect is a good model for producing a congenital diaphragmatic hernia.Discussion The severity of the pulmonary hypoplasia is related to the duration of lung compression by the herniated organs. The time elapsing until the development of lung hypoplasia is shorter than expected. Tracheal occlusion seems to be an effective strategy for treatment of the defect CDH, but the best technique for achieving occlusion, and particularly the ideal point in time to carry out Fetendo, are unknown. Further research into this congenital illness is required in order to treat it.     

Three-dimensional ultrasonographic assessment of fetal lung volume as prognostic factor in isolated congenital diaphragmatic hernia

OBJECTIVE: To evaluate the potential of three-dimensional ultrasound to predict outcome in congenital diaphragmatic hernia. DESIGN: Prospective observational study. SETTING: Tertiary care centre. POPULATION: Twelve cases of isolated congenital diaphragmatic hernia (11 left-sided, 1 right-sided) and 109 controls. METHODS: Fetal lung volume was assessed by three-dimensional ultrasound using the technique of rotation of the multiplanar imaging. In the control fetuses, a logistic transformation was performed to correlate fetal lung volume with gestational age, and the confidence interval was obtained with a bootstrap resampling. A mathematical equation was then obtained allowing calculation of the expected fetal lung volume as a function of gestational age. In fetuses with congenital diaphragmatic hernia, the observed/expected lung volume ratio was compared with postnatal outcome. MAIN OUTCOME MEASURES: Neonatal mortality and pulmonary hypoplasia, which was defined as lung/body weight ratios less than 0.012. RESULTS: The expected fetal lung volume was derived from the mathematical equation: Fetal lung volume (mL) = exp (4.72/(1 + exp ((20.32 - gestational age in weeks)/6.05))). The observed/expected fetal lung volume ratio was significantly lower in the congenital diaphragmatic hernia group (median: 0.34, range: 0.16-0.66), than in the control group (median: 1.02, range: 0.62-1.97, P < 0.0001). The distribution of this ratio was significantly downshifted in the infants with congenital diaphragmatic hernia who died (median: 0.19, range: 0.18-0.66) compared with survivors (median: 0.44, range: 0.36-0.66, P= 0.04). The observed/expected fetal lung volume ratio was also correlated with the postmortem lung/body weight ratio. CONCLUSION: In isolated congenital diaphragmatic hernia, fetal lung volume measurement by three-dimensional ultrasound is a potential predictor for pulmonary hypoplasia and postnatal outcome.     

The CDH Study Group and advances in the clinical care of the patient with congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) occurs in 1 of every 2000 to 4000 births and accounts for 8% of all major congenital anomalies. Recurrence risk for a subsequent pregnancy is estimated at 2%. The mortality rate for CDH when diagnosed antenatally, varies with fetal age and with the presence or absence of hydramnios and degree of pulmonary hypoplasia. The prognosis has improved dramatically in recent years, primarily due to advances in neonatal and surgical interventions. Neonatal survival rates with an antenatal diagnosis now exceed 80% in some centers. Treatment for infants with CDH reflects other pediatric surgical problems in that a majority of the clinical research that shapes treatment is retrospective in nature. Because CDH is a relatively rare disease, using a compilation of cases, such as the CDH database provides, greatly aids our understanding of this disease process. Moreover, the application of a quality assessment scale provides the practitioner with a knowledge base to critically evaluate the published retrospective data.