Prenatal Diagnosis Of Congenital Diaphragmatic Hernia Research Articles

Attempt to shift from traditional to minimal invasive treatment of congenital diaphragmatic hernia at a low volume center

Congenital diaphragmatic hernia (CDH) remains a significant cause of neonatal morbidity and mortality. During the last 10-years, the progress on minimal invasive surgical techniques, has stimulated many Pediatric Surgical centers to switch from traditional open surgery to thoracoscopic or laparoscopic repair. We report our experience to convert treatment of CDH from traditional to minimal invasive. We have reviewed the charts of 10 neonates with diagnosed CDH over the period 2016–2021. On all of them, we collected pre, intra and post-operative information. Interestingly, none of neonates had prenatal diagnosis of CDH but this didn't impact on morbidity or mortality. None of them was extremely preterm or had major cardiac anomalies. Thoracoscopic or laparoscopic approach was attempted in 3 cases but only in one patient was successful. In the other 2 neonates we had to switch to open surgery because of anatomical conditions. In our opinion, the learning curve needed to achieve minimal invasive treatment of CDH is associated with a high conversion rate often, as a consequence of anatomical conditions.

The novel fetal MRI O/E CLV versus O/E LHR in predicting prognosis in congenital diaphragmatic hernias: can we teach an old dog new tricks?

In congenital diaphragmatic hernia (CDH), ultrasound (U/S) measurements of the contralateral lung commonly provide the observed-to-expected lung-to-head ratio (O/E LHR) and are used to determine the severity of pulmonary hypoplasia. Fetal magnetic resonance imaging (MRI) measurement of the observed-to-expected total lung volume (O/E TLV) has been used as an adjunct to O/E LHR in predicting outcomes. Since O/E LHR only measures the contralateral lung, we sought to investigate if MRI measurements of the contralateral lung volume (O/E CLV) can accurately predict outcomes in CDH. We hypothesize that O/E CLV is a better predictor of CDH outcomes than O/E LHR. We identified all infants with a prenatal diagnosis of CDH at our fetal center who had both MRI and U/S measurements. Using lung volume ratios of right-left 55:45, we calculated O/E CLV from O/E TLV. We used receiver-operating characteristic (ROC) curves to calculate the area under the curve (AUC) to compare the predictive accuracy of O/E CLV to O/E LHR for ECMO support, as well as survival to both discharge and 1 year. Seventy-four patients had complete prenatal imaging with 39% requiring ECMO support. The median O/E CLV was 48.0% and the median O/E LHR was 42.3%. O/E CLV was a better predictor of the need for ECMO support (AUC 0.81 vs. 0.74). O/E CLV was a better predictor of survival to discharge (AUC 0.84 vs. 0.64) and 1-year survival (AUC 0.83 vs. 0.63) than O/E LHR. O/E LHR is a well-validated standard for predicting outcomes and guiding prenatal counseling in CDH. We provide evidence that fetal MRI measurements of the contralateral lung volume corrected for gestational age were more accurate in predicting the need for ECMO and survival. Future prospective studies validating O/E CLV regarding outcomes and ECMO utilization are warranted. Level III, retrospective comparative study.

Influence of Gestational Age and Mode of Delivery on Neonatal Outcomes in Prenatally Diagnosed Isolated Congenital Diaphragmatic Hernia

Aim: The optimal gestational age (GA) at delivery and mode of delivery (MoD) for pregnancies with fetal congenital diaphragmatic hernia (CDH) is undetermined. The impact of early term (37–38 weeks 6 days) versus full term (39–40 weeks 6 days) and MoD on immediate neonatal outcomes in prenatally diagnosed isolated CDH cases was evaluated. Material and Methods: A retrospective chart review of pregnancies evaluated and delivered with the prenatal diagnosis of CDH between July 1, 2008, and December 31, 2018. The primary outcome was survival to hospital discharge. Secondary outcomes included neonatal intensive care unit (NICU) length of stay (LOS), extracorporeal membrane oxygenation (ECMO) requirement and need for supplemental oxygen at day 30 of life. Results: A total of 296 patients were prenatally evaluated for CDH and delivered in a single center during the study period. After applying exclusion criteria, data were available on 113 women who delivered early term and 72 women who delivered full term. Survival to hospital discharge was comparable between the 2 groups – 83.2% in the early term versus 93.1% in the full term (p = 0.07; 95% CI of 0.13–1.04). No difference was observed in any other secondary outcomes. MoD was stratified into spontaneous vaginal, induced vaginal, unplanned cesarean and scheduled cesarean delivery with associated neonatal survival rates of 74.2, 90.6, 89.7 and 88.2%, respectively, p = 0.13. The 5-min Apgar score was higher in the elective cesarean group (7.94) followed by the induced vaginal delivery group (7.8) compared to 7.17 and 7.18 in the spontaneous vaginal and unplanned cesarean groups, respectively (p = 0.03). The GA and MoD did not influence survival to hospital discharge nor NICU LOS in multivariate analysis. Conclusions: Though there were no significant differences in neonatal outcomes for early term compared to full term deliveries of CDH neonates, a trend toward improved survival rates and lower ECMO requirements in the full term group may suggest an underlying importance GA at delivery. Further studies are warranted to validate these findings.

Parenting stress among parents of children with congenital diaphragmatic hernia

PurposeThe aim of this study was to examine parental stress among parents of children with congenital diaphragmatic hernia (CDH).MethodsBetween 2005 and 2009, a total of 51 children with CDH were treated at Astrid Lindgren Children’s Hospital. The survival rate at discharge was 86% and long-term survival rate 80%. One parent each of the long-term survivors (41 children) was included in the present study, and 34 parents (83%) agreed to participate. Participants received the Swedish Parenthood Stress Questionnaire (SPSQ). The questionnaire was supplemented by data from case records.ResultsParents of children with CDH, who had been supported by ECMO or had a long hospital stay, showed significantly higher overall parental stress. Mothers scored an overall higher parental stress compared with fathers. A prenatal diagnosis of CDH or lower parental educational level resulted in significantly higher parental stress in some of the factors.ConclusionsParental stress in parents of children with CDH seems to increase with the severity of the child’s malformation. Mothers tend to score higher parental stress than fathers.

Outcomes of Congenital Diaphragmatic Hernia in the Modern Era of Management

To identify clinical factors associated with pulmonary hypertension (PH) and mortality in patients with congenital diaphragmatic hernia (CDH). A prospective cohort of neonates with a diaphragm defect identified at 1 of 7 collaborating medical centers was studied. Echocardiograms were performed at 1 month and 3 months of age and analyzed at a central core by 2 cardiologists independently. Degree of PH and survival were tested for association with clinical variables using Fischer exact test, χ(2), and regression analysis. Two hundred twenty patients met inclusion criteria. Worse PH measured at 1 month of life was associated with higher mortality. Other factors associated with mortality were need for extracorporeal membrane oxygenation, patients inborn at the treating center, and patients with a prenatal diagnosis of CDH. Interestingly, patients with right sided CDH did not have worse outcomes. Severity of PH is associated with mortality in CDH. Other factors associated with mortality were birth weight, gestational age at birth, inborn status, and need for extracorporeal membrane oxygenation.

Hernie diaphragmatique congénitale : le devenir des enfants est-il lié aux modalités de prise en charge ?

Congenital diaphragmatic hernia (CDH) is a serious pathology that requires optimal management in very specialized health centers. French medical care organization is regionally based. Hence, evaluating local practices may help deliver clear information to parents before delivery. The aim of this study was to analyze the neonatal characteristics and the postnatal outcome of infants affected with CDH, treated within two different French perinatal health care networks. Retrospective cohort study of infants with CDH, cared for in the Lorraine perinatal health care network (Réseau Périnatal Lorrain [RPL]) or at Édouard-Herriot Hospital (HEH) in Lyon, between 1997 and 2007. One hundred and twenty-seven newborns were included, 44 in the RPL and 83 in Lyon. Prenatal diagnosis of CDH was similar in RPL and at HEH; 47.7% of infants with CDH died in RPL vs 36.1% in HEH (P=0.2). Surgery delayed for more than 24h was more frequent in RPL (68.6% vs 31.7%; P<0.001), with a postoperative mortality rate of 31.4% vs 15.9%; P=0.08. In RPL, specialized medical follow-up was rare (33.3% vs 100%; P<0.001), while psychomotor retardation was more frequent (33.3% vs 5.7%; P=0.002). This study brings to light the diversity of care and outcome for infants affected with CDH in two French perinatal health care networks. These results may help improve both centers' practices. In Lorraine for instance, the follow-up of these vulnerable children can be improved.

Does Overnight Birth Influence Treatment or Outcome in Congenital Diaphragmatic Hernia?

We examined the effect of overnight birth on treatment and outcome (including initial cardiorespiratory stabilization) in newborns with congenital diaphragmatic hernia (CDH). CDH births between May 2005 and May 2008 were abstracted from a national CDH database. Overnight birth was defined as occurring between 8 PM and 8 AM. Patient characteristics, treatment, and outcomes were compared between birth time groups, including the subset of infants in whom a prenatal diagnosis of CDH had been made. Of 132 cases evaluated, 106 (80%) survived. Forty-nine babies (37%) were born overnight. Eighty-five infants (64%) with a prenatal diagnosis were evenly distributed between the birth time cohorts. Survival to discharge, surgical management, duration of mechanical ventilation, and length of hospital stay were comparable between the risk-matched (SNAP-II score) birth time groups. Overnight birth did predict a lower rate of cesarean section deliveries (P = 0.03). Escalation of ventilator mode, inability to achieve/maintain blood gas targets, development of pneumothorax, and need for extracorporeal membrane oxygenation were all considered "stabilization failures." Overnight birth predicted a failure to maintain or improve pH to within target range (P = 0.008). Overnight birth did not adversely affect outcome in this birth time comparison of newborns with CDH.

Congenital Diaphragmatic Hernia. The Post-Neonatal Period (Part II)

The aim of the study was to review our experience in the management of newborns with congenital diaphragmatic hernia (CDH). A retrospective study including all infants with CDH at the Hospital de São João, a center that does not provide ECMO support, for the period from 1997 to 2006. Since 2003, a new treatment protocol has been used. There were 61 newborns (30 male/31 female) with a birth weight of 2800 g (880 - 3770), and a gestational age of 38 weeks (28 - 41); 46 (75 %) were inborn and 42 (69 %) had a prenatal diagnosis of CDH. There were 2 (3 %) chromosomal anomalies, 3 (5 %) with other congenital anomalies and 1 (2 %) with nonimmune hydrops fetalis. The diaphragmatic defect was left sided in 55 (90 %) cases. Corrective surgery was performed in 43 (70 %) patients. New therapies were used: HFOV 13 % (n = 8); inhaled nitric oxide 13 % (n = 8); and sildenafil 7 % (n = 4). We found that systemic arterial hypotension (p = 0.001), the severity of pulmonary hypertension (p = 0.001), prenatal diagnosis (p = 0.006), birth weight (p = 0.022), female gender (p = 0.029), inborn birth (p = 0.030), arterial pH < 7.35 at admission (p = 0.030), right-sided defect (p = 0.033) and pneumothorax (p = 0.033) to be predictive of mortality. The overall survival rate was 43 % (n = 26), and since 2003 this rate has improved to 61 % for term neonates without other congenital or chromosomal anomalies. Our survival rate for infants with CDH has improved over the last ten years, and this improvement is associated with the use of new therapies such as HFOV, inhaled nitric oxide and sildenafil.

Congenital Diaphragmatic Hernia – The Neonatal Period (Part I)

The aim of the study was to review our experience in the management of newborns with congenital diaphragmatic hernia (CDH). A retrospective study including all infants with CDH at the Hospital de São João, a center that does not provide ECMO support, for the period from 1997 to 2006. Since 2003, a new treatment protocol has been used. There were 61 newborns (30 male/31 female) with a birth weight of 2800 g (880 - 3770), and a gestational age of 38 weeks (28 - 41); 46 (75 %) were inborn and 42 (69 %) had a prenatal diagnosis of CDH. There were 2 (3 %) chromosomal anomalies, 3 (5 %) with other congenital anomalies and 1 (2 %) with nonimmune hydrops fetalis. The diaphragmatic defect was left sided in 55 (90 %) cases. Corrective surgery was performed in 43 (70 %) patients. New therapies were used: HFOV 13 % (n = 8); inhaled nitric oxide 13 % (n = 8); and sildenafil 7 % (n = 4). We found that systemic arterial hypotension (p = 0.001), the severity of pulmonary hypertension (p = 0.001), prenatal diagnosis (p = 0.006), birth weight (p = 0.022), female gender (p = 0.029), inborn birth (p = 0.030), arterial pH < 7.35 at admission (p = 0.030), right-sided defect (p = 0.033) and pneumothorax (p = 0.033) to be predictive of mortality. The overall survival rate was 43 % (n = 26), and since 2003 this rate has improved to 61 % for term neonates without other congenital or chromosomal anomalies. Our survival rate for infants with CDH has improved over the last ten years, and this improvement is associated with the use of new therapies such as HFOV, inhaled nitric oxide and sildenafil.

Congenital diaphragmatic hernia: a survey of practice in Scandinavia.

There is no consensus on the treatment of congenital diaphragmatic hernia (CDH), and practice seems to vary between centres. The main purpose of the present study was to survey current practice in Scandinavia. Thirteen paediatric surgical centres serving a population of about 22 million were invited, and all participated. One questionnaire was completed at each centre. The questionnaire evaluated management following prenatal diagnosis, intensive care strategies, operative treatment, and long-term follow-up. Survival data (1995-1998) were available from 12 of 13 centres. Following prenatal diagnosis of CDH, vaginal delivery and maternal steroids were used at eight and six centres, respectively. All centres used high-frequency oscillation ventilation (HFOV), nitric oxide (NO), and surfactant comparatively often. Five centres had extracorporeal membrane oxygenation (ECMO) facilities, and four centres transferred ECMO candidates. The majority of centres (7/9) always tried HFOV before ECMO was instituted. Surgery was performed when the neonate was clinically stable (11/13) and when no signs of pulmonary hypertension were detected by echo-Doppler (6/13). The repair was performed by laparotomy at all centres and most commonly with nonabsorbable sutures (8/13). Thoracic drain was used routinely at seven centres. Long-term follow-up at a paediatric surgical centre was uncommon (3/13). Only three centres treated more than five CDH patients per year. Comparing survival in centres treating more than five with those treating five or fewer CDH patients per year, there was a tendency towards better survival in the higher-volume centres (72.4%) than in the centres with lower volume (58.7%), p =0.065.

Congenital diaphragmatic hernia: advances in prenatal therapy.

Congenital diaphragmatic hernia (CDH) is one of the most common causes of neonatal morbidity and mortality. The clinical spectrum of CDH ranges from minimally affected infants who do well with modern neonatal care to severely affected infants who die despite all interventions. Two decades of research have led to advances in the prenatal diagnosis of CDH and have better defined the natural history of CDH. Fetuses with CDH now can be stratified into "low" and "high" risk groups based on sonographic parameters. "Low risk" fetuses have an excellent chance of survival with postnatal therapy. Prenatal intervention is reserved for "high risk" fetuses. Ongoing research is focused on improving both prenatal and postnatal treatment of these severely affected infants.

Congenital diaphragmatic hernia: A meta-analysis of mortality factors

Purpose: The aim of this study was to review all available studies reported in the English-language literature from 1975 through 1998, and by meta-analysis assess the importance of prenatal diagnosis, associated malformations, side of hernia, timing of surgery, and study population on mortality rates in patients with congenital diaphragmatic hernia (CDH). Methods: One-hundred-two studies were identified, and 51 studies (2,980 patients) fulfilled the prespecified inclusion criteria. Studies were grouped according to study population into: (I) fetuses diagnosed prenatally; (II) neonates admitted to a treatment center; and (III) population-based studies. Results: Pooled total mortality rate was significantly higher in category I than in category III (75.6% v 58.2%, P <.001). Pooled hidden postnatal mortality rate (deaths before admittance to a treatment center) in population-based studies was 34.9%. Prenatally diagnosed patients in both category II and III had significantly higher mortality rates than those diagnosed postnatally. Mortality rates were significantly higher among CDH infants with associated major malformations compared with isolated CDH in all 3 categories. An increased mortality rate in right-sided CDH was found in category II and III. Conclusions: Prenatal diagnosis of CDH, presence of associated major malformations, and the study population have a major influence on mortality rate. The very high mortality rate in studies of fetuses with a prenatal diagnosis of CDH should be taken into account in prenatal counselling. J Pediatr Surg 35:1187-1197. Copyright © 2000 by W.B. Saunders Company.

Diagnosis and differentiation of congenital diaphragmatic hernia from other noncardiac thoracic fetal masses.

This retrospective study was designed to evaluate individual sonographic parameters that might help differentiate congenital diaphragmatic hernia (CDH) from other noncardiac thoracic masses such as cystic adenomatoid malformation of the lung (CAML) and congenital lobar emphysema (CLE) prenatally. Twenty-four cases of CDH, CAML, and CLE detected during prenatal ultrasound and documented postnatally (with surgical, autopsy, or radiological proof) were identified through extensive chart and record review. The hard copy gray-scale images were retrospectively reviewed for imaging characteristics that may differentiate the three entities. Additionally, the prospective diagnosis during prenatal ultrasound was also compared with the postnatal diagnosis. The most reliable indicators in our retrospective review included confident visualization of a diaphragmatic defect (92.3/100.0 PPV/NPV, p< or =0.002) and/or localization of the stomach within the chest as well as the presence of severe cardiac deviation (both 92.3/62.5 PPV/NPV, p< or =0.01). Other sonographic indicators (including the presence of cystic areas, side and size of the lesion and the presence of polyhydramnios) offered lower levels of sensitivity and specificity. Prospective diagnosis during real-time assessment was also integral, offering >80% sensitivity and specificity (p< or =0.001). Accurate prenatal diagnosis of CDH is difficult despite the relative frequency of this lesion. The classic triad of a thoracic mass accompanying a displaced heart, absence of a normally positioned fluid-filled stomach and polyhydramnios, although seen with CDH, may not adequately differentiate this entity from other noncardiac fetal thoracic masses. Realtime assessment remains integral to the appropriate diagnosis.

Gastroesophageal reflux after repair of congenital diaphragmatic hernia

Seventy-four survivors of congenital diaphragmatic hernia (CDH) repair were reviewed for gastroesophageal reflux (GER). Twenty-nine patients had a prenatal diagnosis of CDH, 31 had the diagnosis established during the first 60 minutes of life, and 14 had a late diagnosis. Fifty-seven of the 60 patients with a prenatal diagnosis or diagnosis at birth had their CDH repaired during the first 24 hours of life. Thirty-six of the 37 patients with clinical signs of GER and 10 patients without typical clinical signs had documented GER. The overall incidence of GER was 62% (46 of 74). The 46 comprised 22 of the 29 patients (75.8%) with a prenatal diagnosis of CDH, 21 of the 31 (67.7%) with a diagnosis at birth, and 3 of the 14 with a late diagnosis. Eleven patients had surgical treatment of GER. A significant correlation was found between GER and the preoperative thoracic position of the stomach (32 v 8, GER + v GER-; P < .01) and GER and the prenatal diagnosis of CDH (22 v 7, GER + v GER-; P < .01). Duration of artificial ventilation (68.97 ± 15.33 days v 14.14 ± 3.89 days, GER + v GER-; P < .005) and duration of hospitalization (22.04 ± 3.59 weeks v 3.9 ± 0.88 weeks, GER + v GER-; P < .0003) were significantly longer for the patients with pathological GER. To decrease the morbidity related to GER, we propose using diaphragmatic patches during hernia repair to lower the strain on the crus, and using parietal patches to lower intraabdominal pressure after reintroduction of the herniated viscera.

Diaphragmatic hernia in the fetus: Prenatal diagnosis and outcome in 94 cases

Most babies born with congenital diaphragmatic hernia (CDH) die after birth. The natural course of CDH in the human fetus is not known. We found 94 cases of fetal CDH in the records of surgeons and obstetricians surveyed in the United States and Canada. We found the following: (1) prenatal diagnosis of CDH is accurate and current techniques can detect lethal nonpulmonary anomalies and prevent diagnostic errors; (2) despite optimal conventional therapy, most fetuses with detectable CDH will die in the neonatal period (80% mortality); (3) polyhydramnios is both a common prenatal marker for CDH (present in 76% of fetuses) and a predictor for poor clinical outcome (only 11% survived); (4) fetal CDH is a dynamic process--nonsurvivors have larger defects and may have more viscera displaced into the chest at an earlier stage of development. Surgical intervention before birth may be necessary to improve survival of the fetus with CDH and polyhydramnios.

Prenatal diagnosis and natural history of the fetus with a congenital diaphragmatic hernia: Initial clinical experience

To study the accuracy of prenatal diagnosis and define the natural history of fetal congenital diaphragmatic hernia (CDH), we reviewed experience with CDH at The University of California, San Francisco (UCSF) over the last three years. All nine babies born in our institution (inborns) and six of 11 babies referred from other hospitals after birth (outborns) died, an overall mortality of 75%. All had pulmonary hypoplasia. Forty percent had associated malformations or chromosomal abnormalities, a higher incidence than generally reported. Prenatal sonograms were available in all nine inborn cases. CDH was correctly diagnosed prospectively in only five, but could be recognized retrospectively in all nine cases using the sonographic criteria developed from the study. Polyhydramnios was present in all nine cases; in seven cases sonography was performed because the woman was large-for-dates clinically. There were no false positive interpretations, and when necessary the diagnosis was confirmed by amniography. All nine cases of CDH detected in utero died. Seven deteriorated so rapidly that surgical repair could not even be attempted. Two who had optimal care (maternal transport, immediate resuscitation and operation) died after repair despite maximal intensive care including vasodilator therapy. Despite the theoretical advantages of maternal transport to pediatric surgical specialty centers, a majority of fetuses with a prenatal diagnosis of CDH will die because their lungs are inadequate to support extra-uterine life even at term.