Cases Of Congenital Diaphragmatic Hernia Research Articles

Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature

Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by a defect in the diaphragm with pulmonary hypoplasia and postnatal pulmonary hypertension. Approximately 50% of CDH cases are associated with other non-pulmonary congenital anomalies (so called non-isolated CDH) and in 5-10% of cases there is a chromosomal etiology. The majority of CDH cases are detected prenatally. In some cases prenatal chromosome analysis reveals a causative chromosomal anomaly, most often aneuploidy. Deletion of 15q26 is the most frequently described structural chromosomal aberration in patients with non-isolated CDH. In this paper we report on two patients with a deletion of 15q26 and phenotypes similar to other patients with CDH caused by 15q26 deletions. This phenotype consists of intra-uterine growth retardation, left-sided CDH, cardiac anomalies and characteristic facial features, similar to those seen in Fryns syndrome. We propose that when this combination of birth defects is identified, either pre- or postnatally, further investigations to confirm or exclude a deletion of 15q26 are indicated, since the diagnosis of this deletion will have major consequences for the prognosis and, therefore, can affect decision making.

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

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. 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. 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. 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.

P-114B 退院後も肺血流シンチにて著明な患側血流低下が持続した左横隔膜全欠損を伴う先天性横隔膜ヘルニアの2例(胃,十二指腸,小腸, 第44回日本小児外科学会学術集会)

P-114B 退院後も肺血流シンチにて著明な患側血流低下が持続した左横隔膜全欠損を伴う先天性横隔膜ヘルニアの2例(胃,十二指腸,小腸, 第44回日本小児外科学会学術集会)

Genetics of congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a common structural birth defect that affects approximately 1 in 2500 live births. Although the exact etiology of most cases of CDH remains unknown, it is becoming increasingly clear that genetic factors play an important role in many cases of CDH. In this paper, we review critical findings in the areas of clinical and basic research that highlight the importance of genetics in the development of CDH. We also provide practical information that can aid physicians and surgeons as they evaluate and care for patients with isolated, nonisolated, and syndromic forms of CDH and their families.

Congenital diaphragmatic hernia and pulmonary hypoplasia: New insights from developmental biology and genetics

Congenital diaphragmatic hernia and pulmonary hypoplasia: New insights from developmental biology and genetics

Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia

To determine whether or not the presence of pleural and/or pericardial effusion can be used prenatally as an ultrasonographic marker for the differential diagnosis between diaphragmatic eventration and diaphragmatic hernia. We present two case reports of non-isolated diaphragmatic eventration associated with pleural and/or pericardial effusion. Additionally, we reviewed the literature for all cases of congenital diaphragmatic hernia (CDH) and diaphragmatic eventration that met the following criteria: (1) prenatal diagnosis of a diaphragmatic defect and (2) definitive diagnosis by autopsy or surgery. The frequencies of pleural effusion, pericardial effusion and hydrops were compared between the two conditions using Fisher's exact test. A subanalysis was conducted of cases with isolated diaphragmatic defects (i.e. diaphragmatic defects not associated with hydrops and other major structural or chromosomal anomalies). A higher proportion of fetuses with diaphragmatic eventration had associated pleural and pericardial effusions compared with fetuses with diaphragmatic hernia (58% (7/12) vs. 3.7% (14/382), respectively, P < 0.001). This observation remained true when only cases of diaphragmatic defects not associated with hydrops and other major structural or chromosomal anomalies were compared (29% (2/7) with eventration vs. 2.2% (4/178) with CDH, P < 0.02). The presence of pleural and/or pericardial effusion in patients with diaphragmatic defects should raise the possibility of a congenital diaphragmatic eventration. This information is clinically important for management and counseling because the prognosis and treatment for CDH and congenital diaphragmatic eventration are different. Published by John Wiley & Sons, Ltd.

Congenital Diaphragmatic Hernia Associated With Spinal Anomalies

Increased mortality is seen in patients with congenital diaphragmatic hernia who have associated anomalies, such as cardiac defects. We reviewed our series of patients with congenital diaphragmatic hernia and spinal anomalies to evaluate if their prognosis was altered. We examined our institutional database from August 1995 to August 2005, examining 679 cases of congenital diaphragmatic hernia, identifying all fetuses and newborns with congenital diaphragmatic hernia and spinal anomalies. Patients who had both congenital diaphragmatic hernia and spinal anomalies were identified by prenatal ultrasound reports, postnatal radiographs, operative notes, and pathology reports. Seven patients were identified in the fetal or neonatal period with concomitant diagnoses of congenital diaphragmatic hernia and spinal anomalies. All patients had normal karyotype analysis. Six of these patients had both defects diagnosed using prenatal ultrasonography. All patients died before hospital discharge. Although the numbers are limited in our series, patients with congenital diaphragmatic hernia and spinal anomalies have a dismal prognosis. This finding has significant implications for prenatal counseling. III.

P-316B A case of congenital diaphragmatic hernia with incarceration of small intestine(Thoracic surgery, the 44th Annual Meeting of Japanese Society of Pediatric Surgeons)

P-316B A case of congenital diaphragmatic hernia with incarceration of small intestine(Thoracic surgery, the 44th Annual Meeting of Japanese Society of Pediatric Surgeons)

Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry‐based study

To describe the true incidence, prenatal detection rate and fetal outcome of congenital diaphragmatic hernia (CDH) in a systematically registered population over an 18-year period and to determine any change in trends over time. This was a retrospective study of all cases of CDH registered in the Central-Eastern France Birth Defects Registry from 1986 to 2003. All fetuses and infants up to 1 year of age diagnosed with CDH were registered, including miscarriages later than 22 weeks of gestation, stillbirths and terminations of pregnancy (TOP). Routine prenatal screening consisted of three ultrasound examinations and there was no upper limit of gestational age for TOP. Five hundred and one cases of CDH were identified from a total of 1 835 022 live births (2.7 cases per 10 000 live births). The overall prenatal detection rate was 54%. There was a significant increase over time in the detection rate mainly for associated CDH and left-sided CDH (P < 0.0001), and in the proportion of neonates delivered in tertiary centers (P < 0.0001). The overall survival rate at discharge was 47% and this increased significantly over time for isolated CDH (P = 0.04), whereas it was lower and remained stable for associated CDH (P = 0.64). The TOP rate for isolated CDH did not vary significantly in contrast to that for associated CDH cases in which the TOP rate increased over time, progressively replacing the neonatal death rate (P = 0.01). Over an 18-year period, this large population-based study demonstrated increasing prenatal detection rates for associated CDH and left-sided CDH and confirmed an increasing survival rate mainly for isolated CDH.

Teratogen-Induced, Dietary and Genetic Models of Congenital Diaphragmatic Hernia Share a Common Mechanism of Pathogenesis

Congenital diaphragmatic hernia (CDH) is a frequently occurring, major congenital abnormality that has high mortality and significant morbidity in survivors. Currently, the pathogenesis of CDH is poorly understood. In this study, we have compared the anatomical characteristics of diaphragm defects in the well-described nitrofen model with the pathogenesis of CDH in vitamin A-deficient rats and wt1 null-mutant mice, representing teratogen-induced, dietary and genetic models of CDH, respectively. Our histological investigations, aided by three-dimensional reconstruction of the developing diaphragm, revealed a common pathogenic mechanism with regards to the location of the diaphragm defect in the foramen of Bochdalek (posterolateral diaphragm) and specific abnormalities within the primordial diaphragm. Furthermore, our analysis of postmortem specimens highlighted similarities in human cases of CDH and these animal models, supporting our hypothesis that CDH in humans arises from a defect in the primordial diaphragm. Immunohistochemical data were consistent with the defect in the primordial diaphragm being in the nonmuscular component. Importantly, these data show that very distinct models of CDH all share a common pathogenic mechanism and, together with supporting evidence from pathological specimens, highlight our proposed pathogenic model for CDH.

Associated malformations in congenital diaphragmatic hernia cases in the last 15 years in a tertiary referral institute

This is a review of cases of perinatally diagnosed congenital diaphragmatic hernia (CDH) with associated malformations with regard to time of diagnosis, side of hernia, associated malformations, and outcome. The authors analyzed the data of CDH cases with associated malformations from records of the I. Department of Obstetrics and Gynecology, Semmelweis University Faculty of Medicine, Budapest, between July 1, 1990 and June 30, 2005. The observed period was analyzed in two parts. The pre- and postnatal examinations verified CDH in 100 cases, 71% of which were associated with other malformations. In 52% (37/71) CDH was diagnosed before the 24th week of gestation. The rate of early diagnosed cases doubled in the second period. Ten percent (7/71) of cases were verified postnatally. Between 1990 and 1997, the percentage of right-sided hernia was 6% (2/34) while in the second period it was 19% (7/37). The association with cardiovascular, chest, and craniofacial anomalies doubled in the second period, while association of central nervous system anomalies halved. Chromosome anomalies were verified in four cases. Pregnancy was terminated in 53% (34/64) and 13% (4/30) of newborn infants survived the perinatal period. Intrauterine or intrapartum death occurred in 8% (5/64) of cases. The prevalence of cardiovascular, pulmonary, and craniofacial anomalies doubled, while that of central nervous system malformations decreased. The prevalence of other associated malformations has not changed significantly between the two periods. The improvement of technical facilities and accumulated experience make it possible to identify a higher number of associated malformations before the 24th week of gestation.

Intrathoracic Testicular Ectopia in Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a defect in the diaphragm through which intra-abdominal and retroperitoneal organs may pass. However, the presence of the testis in the thoracic cavity is rare. Here, we describe a case of left-sided Bochdalek CDH with herniation of the left testis through the defect into the thorax, which was managed successfully by primary orchiopexy.

Efficacy of protocolized management for congenital diaphragmatic hernia. A review of 100 cases

A review of 100 consecutive cases of congenital diaphragmatic hernia (CDH) treated at our institute focusing on the efficacy of protocolized management (PM) was conducted. Of the 100 cases, 14 who became symptomatic more than 24 h after birth, and seven with fatal anomalies (four cardiac and three chromosomal) were excluded, leaving 79 subjects for this study. Of these, 41 were diagnosed prenatally (PD). Subjects were divided into four groups. Group I: No PD, no PM (n = 34), Group II: No PD, PM (n = 4), Group III: PD, no PM (n = 21), and Group IV: PD, PM (n = 20). PM includes criteria for planned delivery, use of high frequency oxygenation, nitric oxide, echocardiography (EC), and a medication schedule. Overall survival rates for Groups I, II, III, and IV were 73.5% (25/34), 75% (3/4), 38.1% (8/21), and 70.0% (14/20), respectively. Survival rates were higher when PM was used: 70.8% (Groups II, IV) versus 60.0% (Groups I, III). Survival rates were significantly lower if diagnosed prenatally (PD+): 53.7% (Groups III, IV) versus 73.7% (Groups I, II) (P < 0.01). However, in PD+ groups, survival was significantly higher if PM was used (P < 0.05). PM significantly reduced length of hospital stay (35.5 vs. 52.0 days: P < 0.05). EC was found to be a predictor for survival while post-ductal AaDO(2) was not. In 17 cases with cardiac anomalies, PM did not affect survival. Our study suggests that use of PM for prenatally diagnosed CDH cases is associated with improved outcome, although the components of PM need to be tested in prospective trials to determine their true value.

P02.16: Pseudocyst of the umbilical cord: prenatal ultrasound characteristics and clinical significance

Objective: To assess the predictive value of an elongated stomach in the fetal abdomen on a longitudinal scan as an early sign of congenital diaphragmatic hernia. Methods: Serial sonograms were performed in 2 cases with thirdtrimester prenatal diagnosis of diaphragmatic hernia and postnatal follow-up was obtained. Results: We retrospectively reviewed our cases of congenital diaphragmatic hernia. In 2 of them, despite final diagnosis was made in the third trimester, suspicion was raised at midtrimester based upon the ultrasound finding of dislocation of the stomach in the fetal abdomen, which appeared with peculiar elongated and narrow morphology on longitudinal scan. Conclusions: Prenatal diagnosis of diaphragmatic hernia can be made since midtrimester, although it is frequently achieved in late gestation only. We herein suggest the potential for a peculiar sonographic feature of the fetal stomach at midtrimester as a highly predictive sign for such malformation.

P02.13: Prenatal diagnosis of diaphragmatic hernia: an early sonographic finding for second‐trimester diagnosis

To assess the predictive value of an elongated stomach in the fetal abdomen on a longitudinal scan as an early sign of congenital diaphragmatic hernia. Serial sonograms were performed in 2 cases with third-trimester prenatal diagnosis of diaphragmatic hernia and postnatal follow-up was obtained. We retrospectively reviewed our cases of congenital diaphragmatic hernia. In 2 of them, despite final diagnosis was made in the third trimester, suspicion was raised at midtrimester based upon the ultrasound finding of dislocation of the stomach in the fetal abdomen, which appeared with peculiar elongated and narrow morphology on longitudinal scan. Prenatal diagnosis of diaphragmatic hernia can be made since midtrimester, although it is frequently achieved in late gestation only. We herein suggest the potential for a peculiar sonographic feature of the fetal stomach at midtrimester as a highly predictive sign for such malformation.

OC30: Updated results of the FETO task group as a prelude to setup of clinical trials

To review the effect of fetoscopic endoluminal tracheal occlusion (FETO) at 26–29 w on fetuses with severe congenital diaphragmatic hernia (CDH) and define a strategy for future clinical trials. Eligibility for FETO was single fetus with severe CDH (lung-to-head ratio (LHR) < 1 and intrathoracic liver) without associated problems. FETO was at 26–29 w gestational age (GA). Outcome measure was postnatal pulmonary outcome i.e. survival withoutor death due to pulmonary hypoplasia and/or hypertension. Regression analysis was used to investigate the effect on survival of LHR prior to FETOgestational age at FETO and at deliverypreterm amniorrhexis or prenatal removal of the balloon. 43 left and 10 right-sided CDH cases had a median LHR = 0.7 prior to FETO (range: 0.5–0.9). All but 1 operation were successful at 1st attempt with a median operation time of 10 min (range: 3–60). There were no maternal complications. Amniorrhexis occurred in 26% at < 32 wksin the last half it was 16%. Median GA at delivery was 35 wks (range 27–41). Airways were restored either perinatally (n = 18) or by planned retrieval at 34 wks (n = 35). Early neonatal survival resp. at discharge were 60% (32/53) and 51% (27/53). LHR prior to FETO is predicting survivalincreasing from 13% for LHR < 0.6 (n = 8) to 52% for LHR of 0.6⩽LHR < 0.8 (n = 25) and 65% for 0.8⩽LHR < 1 (n = 20). Left sided lesions did better than right sided. A learning curve is suggested by improving PPROM rates and GA at delivery (37 wks in the latter two thirds of a single surgeon experience with FETO (22/33). Survival after FETO is dependent on preoperative LHR and we suggest to stratify likewise. When LHR < 0.6 survival rate is only 13%therefore pulmonary response to very early FETO (< 24 w) should be studied. Survival in fetuses with CDH and 0.6⩽LHR < 1.0 is 58%. In the more common left sided group we suggest randomisation against optimal postnatal care.

Congenital Diaphragmatic Hernia: Two Case Studies with Atypical Presentations

Congenital diaphragmatic hernia (CDH) affects 1 in every 2,000 to 4,000 live births. Many infants with this condition are diagnosed antenatally through routine ultrasound screening. Nearly 90 percent present at delivery with severe respiratory distress requiring intubation. Many of these infants develop persistent pulmonary hypertension of the newborn due to hypoplasia of the affected lung. The survival of infants with CDH is limited by the degree of pulmonary hypoplasia and requires sophisticated medical technology such as high-frequency ventilation and inhaled nitric oxide. Some infants also require treatment with extracoporeal membrane oxygenation. This article gives details of two cases of CDH in which the presentation was atypical. The more subtle presentation is discussed, as well as the embryology and pathophysiology of CDH and the possibility of associated anomalies. Clinical management and impact on the family are outlined.

Quantitative analysis of fetal pulmonary vasculature by 3-dimensional power Doppler ultrasonography in isolated congenital diaphragmatic hernia

The purpose of this study was to evaluate the potential of 3-dimensional (3D) power Doppler imaging to predict neonatal outcome and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (CDH). In this prospective observational study, 3D-power Doppler ultrasonography was performed in 21 cases with isolated CDH between 23 and 33 weeks of gestation and in 58 controls between 20 and 40 weeks. Using the same preestablished settings for all cases, power Doppler was applied to each lung, and fetal lung volumes (FLV) were estimated using the rotational technique. The 3D power Doppler histogram was used to determine the vascular indices, which were plotted against gestational age and compared with neonatal outcome, PAH, gestational age, and FLV. Fetal pulmonary vascular indices showed a constant distribution throughout gestation, being significantly lower in cases with CDH than in controls (P < .001). Among CDH cases, the vascular indices were significantly lower in fetuses who died (P < .05), and in fetuses with neonatal PAH (P < .05). The severity of neonatal PAH was also associated with a progressive reduction in prenatal vascular indices (P < .05). All vascular indices correlated with o/e-FLV, but not with gestational age. All vascular indices seem to be constant throughout gestation. In isolated CDH, perinatal outcome and postnatal PAH can be predicted using the vascular indices assessed by 3D power Doppler histogram.

Circulating cell-free fetal messenger RNA levels after fetoscopic interventions of complicated pregnancies

The aim of this study was to examine fetal gene expression in maternal plasma after fetoscopic intervention for twin-twin transfusion syndrome or congenital diaphragmatic hernia. Twelve women with pregnancies that were complicated by twin-twin transfusion syndrome and 10 women carrying fetuses with congenital diaphragmatic hernia were sampled before and sequentially after treatment. Levels of glyceraldehyde-3-phosphate dehydrogenase, human placental lactogen, and gamma globin messenger RNA were measured by real-time reverse transcriptase polymerase chain reaction amplification. At all time points, glyceraldehyde-3-phosphate dehydrogenase messenger RNA levels were higher in the congenital diaphragmatic hernia cases than in the twin-twin transfusion syndrome cases (P < .05), but during the immediate postoperative observation period, there were no significant changes in glyceraldehyde-3-phosphate dehydrogenase, human placental lactogen, or gamma globin messenger RNA levels in individual patients or patients who were grouped by procedure. Fetoscopic intervention of complicated pregnancies does not affect circulating fetal messenger RNA levels, which is in contrast to earlier observations that circulating fetal DNA levels increase after laser ablation for twin-twin transfusion syndrome. Plasma glyceraldehyde-3-phosphate dehydrogenase messenger RNA levels could be a potential novel biomarker for fetal trauma.

False-positive rate in prenatal diagnosis of surgical anomalies

Background/Purpose Technical refinements and increasingly sophisticated equipment have led to higher sensitivity in prenatal diagnosis of congenital malformations; however, such progress may be accompanied by decreased specificity. The aim of this study is to evaluate evolution of prenatal diagnosis from the first sonographic suspicion of fetal anomaly until after delivery (diagnosis confirmed, resolution before birth, healthy baby, or affected with different disorder) to document rate of false-positive (FP) results. Methods Retrospective review of prenatal ultrasound examinations performed at our institution between 2000 and 2002 was conducted. The series includes pregnancies referred to our department after detection of thoracic and abdominal anomalies at routine obstetrical sonography and with a follow-up comprising at least the first 6 months of life. Urologic malformations were excluded. Those fetuses who proved healthy at birth were considered FP results. Results One hundred fifty-seven fetuses/neonates underwent complete follow-up. Prenatal diagnosis of esophageal atresia resulted in 3 (27%) of 11 FPs. Finding of dilated bowel, isolated or associated with hyperechogenicity or ascites, was not predictive of small bowel obstruction in 7 (41%) of 17 fetuses. No FPs were found with regard to abdominal wall defects (8 gastroschisis and 26 omphaloceles, all confirmed at birth). Concerning thoracic malformations, no FPs were seen among the 28 cases of congenital diaphragmatic hernia, whereas diagnosis of lung malformation presented a specificity of 97% (1/28 FP). Ovarian cysts accounted for an FP rate of 17% (4/23 FPs). Overall, a percentage of FP of 12% (6/50) was seen in 2000, of 11% (5/44) in 2001, and 9% (6/63) in 2002, with no statistically significant difference. Conclusions Because of the high FP rate regarding some particular anomalies, unnecessary psychological burden to prospective parents may ensue. This issue should be dealt with in future prospective studies.