Congenital heart disease associated with congenital diaphragmatic hernia: A systematic review on incidence, prenatal diagnosis, management, and outcome.

PURPOSE: The purpose of this study was to evaluate the impact of congenital heart disease (CHD) on infants with congenital diaphragmatic hernia (CDH). METHODS: Using a defined search strategy (PubMed, Cochrane, Embase, Web of Science MeSH headings), we searched studies reporting the incidence, management, and outcome of CDH infants born with associated CHD. RESULTS: Of 6410 abstracts, 117 met criteria. Overall, out of 28,974 babies with CDH, 4427 (15%) had CHD, of which 42% were critical. CDH repair was performed in a lower proportion of infants with CHD (72%) than in those without (85%; p < 0.0001). Compared to CDH babies without CHD, those born with a cardiac lesion were more likely to have a patch repair (45% vs. 30%; p < 0.01) and less likely to undergo minimally invasive surgery (5% vs. 17%; p < 0.0001). CDH babies with CHD had a lower survival rate than those without CHD (52 vs. 73%; p < 0.001). Survival was even lower (32%) in babies with critical CHD. CONCLUSION: CHD has a strong impact on the management and outcome of infants with CDH. The combination of CDH and CHD results in lower survival than those without CHD or an isolated cardiac defect. Further studies are needed to address some specific aspects of the management of this fragile CDH cohort. TYPE OF STUDY: Systematic review and meta-analysis. LEVEL OF EVIDENCE: Level III.

Assessment of the nitrofen model of congenital diaphragmatic hernia and of the dysregulated factors involved in pulmonary hypoplasia.

PURPOSE: To study pulmonary hypoplasia (PH) associated with congenital diaphragmatic hernia (CDH), investigators have been employing a fetal rat model based on nitrofen administration to dams. Herein, we aimed to: (1) investigate the validity of the model, and (2) synthesize the main biological pathways implicated in the development of PH associated with CDH. METHODS: Using a defined strategy, we conducted a systematic review of the literature searching for studies reporting the incidence of CDH or factors involved in PH development. We also searched for PH factor interactions, relevance to lung development and to human PH. RESULTS: Of 335 full-text articles, 116 reported the incidence of CDH after nitrofen exposure or dysregulated factors in the lungs of nitrofen-exposed rat fetuses. CDH incidence: 54% (27-85%) fetuses developed a diaphragmatic defect, whereas the whole litter had PH in varying degrees. Downregulated signaling pathways included FGF/FGFR, BMP/BMPR, Sonic Hedgehog and retinoid acid signaling pathway, resulting in a delay in early epithelial differentiation, immature distal epithelium and dysfunctional mesenchyme. CONCLUSIONS: The nitrofen model effectively reproduces PH as it disrupts pathways that are critical for lung branching morphogenesis and alveolar differentiation. The low CDH rate confirms that PH is an associated phenomenon rather than the result of mechanical compression alone.

Epidemiology, management and outcome of gastroschisis in Sub-Saharan Africa: Results of an international survey.

BACKGROUND: The aim was to compare gastroschisis (GS) epidemiology, management and outcome in low-income countries (LIC) in Sub-Saharan Africa (SSA) with middle- (MIC) and high-income countries (HIC). MATERIALS AND METHODS: A 10-question survey was administered at the 2012 Pan-African Paediatric Surgery Association Congress. RESULTS are presented as median (range); differences were analysed using contingency tests. RESULTS: A total of 82 delegates (28 countries [66 institutions]) were divided into LIC (n = 11), MIC (n = 6) and HIC (n = 11). In LIC, there were fewer surgeons and more patients. LIC reported 22 cases (1-184) GS/institution/year, compared to 12 cases (3-23)/institution/year in MICs and 15 cases (1-100)/institution/year in HICs. Antenatal screening was less readily available in LIC. Access to parenteral nutrition and neonatal intensive care in LIC was 36% and 19%, compared to 100% in HIC. Primary closure rates were similar in LIC and HIC at 58% and 54%, respectively; however, the majority of staged closure utilised custom silos in LIC and preformed silos in HIC. In LIC, mortality was reported as >75% by 61% delegates and 50-75% by 33%, compared to <25% by 100% of HIC delegates (P < 0.0001). CONCLUSIONS: Gastroschisis is a problem encountered by surgeons in SSA. Mortality is high and resources in many centres inadequate. We propose the implementation of a combined epidemiological research, service delivery training and resource provision programme to help improve our understanding of GS in SSA whilst attempting to improve outcome.

Pre- and postoperative rectal manometric assessment of patients with anorectal malformations: should we preserve the fistula?

BACKGROUND: Surgical correction of congenital anorectal malformations could be complicated by fecal incontinence. Some authors believe that preservation of the fistula is associated with improved outcome. Rectal manometry is a well-established method to evaluate postoperative functional outcome in these patients and can demonstrate successful transplantation of the fistula. OBJECTIVE: Herein, we report the results of our series of patients with anorectal malformations and an externally accessible fistula, who underwent pre- and postoperative rectal manometry studies. DESIGN: This is a prospective cohort study. SETTINGS: This study was conducted at a tertiary neonatal and pediatric surgical center. PATIENTS: Patients with anorectal malformations, who underwent preoperative rectal manometry of the fistula and postoperative rectal manometry of the neoanus between January 2002 and December 2011 were included. MAIN OUTCOME MEASURES: Pre- and postoperative rectal manometry results were compared by using paired t test or contingency tables (p values <0.05). RESULTS: Twelve female patients with rectoperineal (n = 7, 58%) or rectovestibular (n = 5, 42%) fistula were treated by anterior sagittal anorectoplasty or minimal posterior sagittal anorectoplasty. Complete transposition of the fistula was achieved in all patients. Normal presence of rectoanal inhibitory reflex was demonstrated in all pre- and postoperative rectal manometry studies. There were no differences between pre- and postoperative rectal manometry in the length of the high-pressure zone (2.3 ± 0.6 cm vs 2.5 ± 0.8 cm (p = 0.5)) and resting pressure (59.4 ± 18.2 mm Hg vs 62.1 ± 19.2 mm Hg (p = 0.62)). At a median follow-up of 665 days (range, 290-1165 days), all patients have voluntary bowel movements, with no incontinence or soiling. LIMITATIONS: This study is limited by its small sample size and by single-institution bias. CONCLUSION: Preoperative rectal manometry of rectoperineal or rectovestibular fistula showed the presence of functional anal structures within the fistula in all patients. We speculate that fistula-preserving surgery in patients with anorectal malformations is associated with improved bowel function outcome.