Bowel Control, Bladder Function, and Quality of Life in Children with Cloacal Malformations.

INTRODUCTION: Long-term outcomes of cloacal malformations remain unclear. We evaluated postoperative bowel control, bladder function and quality of life in patients under 18 years of age with cloaca. MATERIALS AND METHODS: This was a multi-center cross-sectional observational study accomplished by the Nordic Pediatric Surgery Research Consortium. Patients with a cloacal malformation, 4-17 years of age, were eligible. Data including patient characteristics, surgical procedures, and complications were retrieved from case records. Established questionnaires with normative control values evaluating bowel function, bladder function, and health-related quality of life (HRQoL) were sent to the patients and their caregivers. The study was approved by the participating center's Ethics Review Authorities. RESULTS: Twenty-six (67%) of 39 eligible patients with median age 9.5 (range, 4-17) years responded. Twenty-one (81%) patients had a common channel ≤3 cm. Imaging confirmed sacral anomalies in 11 patients and spinal cord abnormalities in nine. Excluding patients with stoma (n = 5), median bowel function score was 12 [7-19], and 5 patients (20%) reported a bowel function score ≥17, approaching normal bowel control level. Bowel management increased proportion of socially continent school-aged children to 52%. Six (23%) patients had a permanent urinary diversion or used clean intermittent catheterization (CIC), while majority (70%) of the remaining patients were urinary continent. The reported HRQoL was comparable to healthy Swedish children. CONCLUSION: Whilst well-preserved spontaneous bowel control was rare, a majority of patients were dry for urine without any additional procedures. Few patients experienced social problems or negative impact on HRQoL due to bladder or bowel dysfunction. LEVEL OF EVIDENCE: Level IV.

Long-term outcomes in newborn surgery.

This article describes the common methods to study long-term outcomes in patients who have undergone major surgery in newborn period. It also sums up today's knowledge on the long-term outcome of some classic newborn surgical conditions. The analysis of long-term outcomes is important to pediatric surgeons. Knowledge of long-term outcome can guide the patient's management and principles of the follow-up throughout the patient's childhood. It also aims to give the parents of the patient a realistic picture on the development of their child. Recent data have shown that many patients who have undergone major surgery during early childhood have significant functional aberrations at adult age. Some of these have a profound influence on the quality of life of these patients.

Lessons learned from lower urinary tract complications of anorectoplasty for imperforate anus with rectourethral/rectovesical fistula: Laparoscopy-assisted versus posterior sagittal approaches.

PURPOSE: To report the sequelae of and preventive strategies for selected lower urinary tract (LUT) complications, i.e., posterior urethral diverticulum (PUD), intraoperative LUT injuries, postoperative dysuria, and fistula recurrence in male imperforate anus (IA) with rectourethral/rectovesical (RU/RV) fistula after laparoscopy-assisted anorectoplasty (LAARP) or posterior sagittal anorectoplasty (PSARP). METHODS: 153 boys with IA and RU/RV fistula treated 1986-2019 by LAARP (n = 56) or PSARP (n = 97) at two unrelated institutes were studied retrospectively. RESULTS: After mean follow-up of 17.0 years (range: 36.5 days-32.0 years), the overall incidences of LUT complications were: LAARP (6/56; 10.7%); PSARP (7/97; 7.2%); p = 0.55, comprising PUD: LAARP (n = 5), PSARP (n = 0); p = 0.006; injuries: LAARP (n = 0), PSARP (n = 5); p = 0.16; dysuria: LAARP (n = 1), PSARP (n = 1); p>0.999; and recurrence: LAARP (n = 0), PSARP (n = 1); p>0.999. Mean onset of PUD was 5.1 years (range: 1.0-15.1 years). TREATMENT: PUD: surgery (n = 2/5), conservative (n = 3/5); injuries: intraoperative repair (n = 5/5); dysuria: conservative (n = 2/2), and recurrence: redo PSARP (n = 1/1). CONCLUSIONS: Strategies devised to improve dissection accuracy resolved the specific technical issues causing LUT complications (remnant RU fistula dissection in LAARP and blind posterior access in PSARP). Currently, the incidence of new cases of PUD and LUT injuries is zero. LEVEL OF EVIDENCE: Level III.

Upper endoscopy for non-acute non-specific symptoms is seldom beneficial for children under the age of seven.

AIM: This study estimated the diagnostic yield of oesophagogastroduodenoscopy (OGD) in young children with non-acute, non-specific gastrointestinal or respiratory symptoms who were treated by a Finnish tertiary level referral centre. METHODS: A retrospective chart analysis was performed on 1850 Finnish children under 7 years of age who underwent their first diagnostic OGDs at Helsinki University Hospital during 2006-2016. We noted the endoscopy indications, macroscopic findings, the histology of the mucosal biopsies and the follow-up data. RESULTS: After the exclusion criteria were applied, we enrolled 666 patients (57.7% boys) at a median age of 3.5 years. The number of children with non-specific symptoms referred for OGD increased 2.3-fold in 11 years. A routine set of biopsies was obtained in 644/666 (96.7%) of the endoscopies. The OGD was both macroscopically and histologically normal in 519/644 (80.6%) of cases. The most common indication was to rule out gastro-oesophageal reflux disease in 268/666 (40.2%) cases, and the most frequent histological diagnosis was mild to moderate oesophagitis in 57/644 (8.9%) cases. There was no erosive oesophagitis. CONCLUSION: The diagnostic yield of macroscopic and histological OGD findings was low in our cohort. Unless there are alarming symptoms, younger children do not need OGD.

Intra-articular venous malformation of the knee in children: magnetic resonance imaging findings and significance of synovial involvement.

BACKGROUND: Intra-articular venous malformations of the knee are an uncommon cause of unilateral knee pain in children. Timely diagnosis is important because lesions with intrasynovial involvement can lead to joint space hemorrhage and secondary cartilage damage. OBJECTIVE: To describe our tertiary center's experience of diagnostics and typical magnetic resonance imaging (MRI) findings. MATERIALS AND METHODS: A retrospective review of all patients ≤16 years of age managed for intra-articular venous malformations of the knee at our institution between 2002 and 2018. RESULTS: Of 14 patients (8 male), the mean age at presentation was 6 years (range: 0-14 years). The most common clinical findings were unilateral knee pain (93%), joint swelling (79%), quadriceps atrophy (50%) and a limited range of motion (29%). Cutaneous manifestations were present in four patients (29%). Contrast-enhanced MRI was available in all cases. After initial MRI, a vascular anomaly etiology had been identified in 11 cases (79%), and correctly reported as a venous malformation in 6 (55%). Three patients received entirely different diagnoses (arthritis, tumor or pigmented villonodular synovitis). Three of seven patients with intrasynovial lesions had established chondropathy at diagnosis. Two patients with lesions of the suprapatellar fat pad had intrasynovial involvement that was not visualised on MRI. CONCLUSION: Although MRI usually permits the diagnosis, clinical awareness of these lesions is important for optimal imaging, accurate interpretation and timely diagnosis. Involvement of the intrasynovial cavity carries a risk of hemarthrosis and progressive chondropathy that may be underestimated by MRI.

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.

The pathogenesis of Hirschsprung disease is complex. Although the RET proto-oncogene is the most frequently affected gene in Hirschsprung disease, rare coding sequence variants explain only a small part of Hirschsprung disease cases. We aimed to assess the genetic background of Hirschsprung disease using a genome-wide association analysis combined with sequencing all RET exons in samples from 105 Hirschsprung disease cases (30 familial and 75 sporadic) and 386 controls. As expected, variants in or near RET showed the strongest overall association with Hirschsprung disease and the most statistically significant association was observed when using a recessive genetic model (rs2435357, NC_000010.10:g.43582056T > C; genotype TT, OR = 17.31, P = 1.462 × 10-21). Previously published associations in variants in SEMA (rs11766001, NC_000007.13:g.84145202A > C; allele C, OR = 2.268, P = 0.009533) and NRG1 (rs4541858, NC_000008.10:g.32410309A > G; allele G, OR = 1.567, P = 0.015; rs7835688, NC_000008.10:g.32411499G > C; allele C, OR = 1.567, P = 0.015) were also replicated in the genome-wide association analysis. Sequencing revealed a total of 12 exonic RET rare variants. Of these, eight amino acid changing rare variants and two frameshift variants caused or possibly caused Hirschsprung disease. Only a minority of the Hirschsprung disease cases (9/30 familial; 7/75 sporadic) carried one of the rare variants. Excluding the rare variant carriers from the genome-wide association analysis did not appreciably change the association of rs2435357 with Hirschsprung disease. We estimate that approximately two thirds of the sporadic cases may be statistically attributed to the recessive action of the common non-coding RET variants. Thus, even though most cases do not carry rare RET variants, combinations of rare variants and the common non-coding RET variant cause the majority of the cases in our population.

Combined management of perianal rhabdomyosarcoma with chemotherapy, radical surgery, and irradiation: A series of three consecutive children.

BACKGROUND AND AIM: We describe a series of three successive patients with perianal rhabdomyosarcoma (PRMS) from 2014 to 2017 managed with combined chemotherapy, radical surgery, and radiotherapy. METHODS: Ethical consent was obtained. Data including tumor presentation, treatment, and survival was collected from hospital reports. RESULTS: Two girls aged 15 and 16 years (patient #1 and #2) and one boy aged five years (patient #3) were referred because of a suspected perianal abscess. MRI showed large perianal tumors from 7 to 12 cm in diameter that surrounded or infiltrated the anal sphincters and were inconsistent with abscess. Tumor biopsies showed RMS of alveolar (#1 and #2) and embryonal (#3) types. Patient #1 had lymph node and bone metastases, patient #2 lymph node metastases, and patient #3 no metastases. Pretreatment staging, IRS Clinical Group, and Risk Groups were: Stage 4, II, high; Stage 3, GII, intermediate; and Stage 3, I, low, respectively. All underwent colostomy before neoadjuvant chemotherapy (CWS-RMS 2009 program). Neoadjuvant chemotherapy failed to clear the tumors from anal sphincters preventing anus-saving surgery, and all patients underwent abdominoperineal excision. All removed specimens had free margins with negative lymph nodes. After adjuvant chemotherapy and local radiation, the patients were tumor free after 48, 13, and 18 months. CONCLUSION: In PRMS local surgical control required abdominoperineal excision. Confusion between PRMS and abscess may cause unnecessary delay in management. LEVEL OF EVIDENCE: IV (Treatment Study, Case Series with no Comparison Group).

Long-term Single-centre Outcomes After Proctocolectomy With Ileoanal Anastomosis for Paediatric Ulcerative Colitis.

BACKGROUND AND AIMS: Childhood-onset ulcerative colitis [UC] requires total colectomy in one-quarter of patients at some point of their disease. The study objective was to evaluate long-term outcomes after proctocolectomy with ileoanal anastomosis [IAA] for paediatric UC. METHODS: Medical records of all children undergoing proctocolectomy with IAA for UC during 1985-2016 in Helsinki University Hospital were retrospectively assessed. Data on disease history, diagnostic and operative details, occurrence of surgical complications, functional outcome, postoperative diagnosis of Crohn's disease [CD] and pouch failure were collected. Risk factors for IAA failure were analysed with Cox regression. RESULTS: Of 87 patients, 85 [98%] had UC and 2 [2%] inflammatory bowel disease unclassified [IBD-U] preoperatively. Altogether 66% underwent two-stage and 34% underwent three-stage procedures. During 7.8 [4.1-14.5] years' follow-up, nine [10%] patients were diagnosed with postoperative CD. Postoperative leakages [n = 8, 9%] and strictures [n = 10, 11%] were equally common, whereas fistulas [78% vs 9%, p <0.001] and abscesses [56% vs 14%, p = 0.009] were more frequent among patients with later CD diagnosis. At latest follow-up, eight [9%] patients had been converted to a permanent ileostomy and others reported daytime stooling frequency of 5 [4-7] and 0.5 [0-1] at night. CD diagnosis (hazard ratio [HR] = 23.3, p = 0.005), postoperative abscesses [HR = 16.3, p = 0.013] and fistulas [HR = 20.9, p = 0.007] as well as three-stage surgery [p = 0.018] increased risk for ileostomy. CONCLUSIONS: For paediatric UC, long-term surgical and functional outcomes after proctocolectomy with IAA are reassuring. Need for three-stage surgery and occurrence of postoperative fistulas and abscesses, but not leakages or strictures, associate with postoperative CD diagnosis and the risk for ileostomy.

Medium and long-term outcomes of gastroschisis.

As survival of gastroschisis patients has improved significantly, it has become apparent that longitudinal follow up strategies need to be developed. Problems concerning patients with gastroschisis are usually associated with gastrointestinal morbidity, but there is mounting evidence that also neurodevelopmental, cognitive, behavioral and late-onset auditory sequelae exist. The presence of associated anomalies, as well as complex features (bowel atresia, necrosis, volvulus, perforation) increase morbidity and impact long-term outcomes. Multidisciplinary follow-up is required, and the key elements of such follow-up are presented here.

Congenital diaphragmatic hernia: a scientometric analysis of the global research activity and collaborative networks.

Despite a growing interest to clinicians and scientists, there is no comprehensive study that examines the global research activity on congenital diaphragmatic hernia (CDH). A search strategy for the Web of Science™ database was designed to identify scientific CDH publications. Research output of countries, institutions, individual authors, and collaborative networks was analyzed. Semi-qualitative research measures including citation rate and h-index were assessed. Choropleth mapping and network diagrams were employed to visualize results. A total of 3669 publications were found, originating from 76 countries. The largest number was published by the USA (n = 1250), the UK (n = 279), and Canada (n = 215). The USA combined the highest number of cooperation articles (n = 152), followed by Belgium (n = 115) and the Netherlands (n = 93). The most productive collaborative networks were established between UK/Belgium (n = 53), Belgium/Spain (n = 47), and UK/Spain (n = 34). Canadian publications received the highest average citation rate (22.8), whereas the USA had the highest country-specific h-index (72). Eighty-five (2.3%) articles were published by international multicenter consortiums and national research networks. The most productive institutions and authors were based in North America and Europe. Over the past decades, CDH research has increasingly become multidisciplinary and numerous innovative therapeutic strategies were introduced. CDH-related research has constantly been progressing, involving today many disciplines with main research endeavors concentrating in a few high-income countries. Recent advances in prenatal interventions and regenerative medicine therapy hold the promise of improving CDH outcome in the 21st century. International collaborations and translational research should be strengthened to allow further evolution in this field.

Intestinal Microbiota in Hirschsprung Disease.

OBJECTIVES: The aim of the study was to characterize the microbiota profiles of patients with Hirschsprung disease (HD) and to evaluate this in relation to postoperative bowel function and the incidence of Hirschsprung-associated enterocolitis (HAEC). METHODS: All patients operated on for HD at our center between 1987 and 2011 were invited to answer questionnaires on bowel function and to participate in a clinical follow-up for laboratory investigations, including fecal DNA extraction, fecal calprotectin (FC), and brush border lactase (LCT) genotyping. The microbiota compositions of patients with HD were compared with those of healthy controls aged between 2 and 7 years. RESULTS: The microbiota composition of eligible patients with HD (n = 34; median age 12 [range, 3-25] years) differed from the healthy controls (n = 141), showing decreased overall microbial richness (P < 0.005). Seventy-seven percent had experienced HAEC. Normal maturation of the intestinal flora was not observed, but patients had a significantly increased abundance of Proteobacteria among other taxa (P < 0.005) resulting in a reduced carbohydrate degradation potential, as predicted by the taxonomic composition. Genetic lactase deficiency was present in 17% and did not correlate with bowel symptoms. No patients reported active HAEC at the time of sampling and FC was within the normal range in all samples. CONCLUSIONS: Patients with HD and HAEC had a significantly altered intestinal microbiome compared to healthy individuals, characterized by a lack of richness and pathologic expansions of taxa, particularly Enterobacteria and Bacilli. Further evaluation is needed to identify whether these observations are intrinsic to HD or secondary to the recurrent use of antibiotics during early childhood.

Pediatric Intestinal Failure: The Key Outcomes for the First 100 Patients Treated in a National Tertiary Referral Center During 1984-2017.

BACKGROUND: Pediatric-onset intestinal failure (IF) remains a severe illness with life-threatening consequences. In this study, we analyzed a single center's outcomes of IF over 3 decades. METHODS: All children with IF who required parenteral nutrition (PN) >2 months or small-intestinal resection ≥50% managed since 1984 were included for retrospective outcome analyses. RESULTS: In total, 100 patients with median PN duration of 1.2 (interquartile range, 0.4-3.5) years were identified. Causes of IF were short bowel syndrome (SBS; n = 78), primary intestinal motility disorders (n = 14), and congenital intestinopathies (n = 8). Patients with SBS had median 40 (25-60) cm of small bowel remaining. Overall, Kaplan-Meier 5- and 10-year weaning-off estimates were 67% (95% CI, 57-77) and 73% (95% CI, 63-84), respectively. Weaning off PN was predicted by remaining bowel anatomy, multidisciplinary treatment era, and absence of immune deficiency. Catheter-related bloodstream infections decreased from 1.4 to 0.6/1000 PN days (P = .0003) with systematic use of taurolidine locks. None had progressive liver disease. Thirty-one percent of patients with SBS underwent autologous intestinal reconstructive surgery. Five patients received and 2 were listed for isolated intestinal transplantation. Eight patients died, and overall 15-year survival rate estimate was 91% (95% CI, 85-98). CONCLUSIONS: Despite reassuring rates of survival and weaning off PN, long-term PN failed in 14% of patients solely because of catheter complications in the recent era. Achievement of enteral autonomy in those with the shortest remaining small bowel and functional cause of IF remains challenging.

No Tissue Expression of KRAS or BRAF Mutations in 61 Adult Patients Treated for Esophageal Atresia in Early Childhood.

BACKGROUND: Previous studies have reported an association among esophageal atresia (EA), Barrett's esophagus, and esophageal adenocarcinoma later in life. OBJECTIVE: The objective of the article is to evaluate KRAS and BRAF mutations as potential genetic markers for early detection of malignant transformation, we used an ultrasensitive technique to detect tissue expression of KRAS and BRAF mutations in endoscopic biopsies from 61 adult patients under follow-up after treatment for EA. MATERIALS AND METHODS: RNA was extracted from 112 fresh-frozen endoscopic tissue biopsies from 61 adult patients treated for EA in early childhood. RNA was reverse transcribed using the extendable blocking probe reverse transcription method. KRAS codons 12 and 13, as well as BRAF mutations were detected by quantitative polymerase chain reaction. RESULTS: No mutations of KRAS codon 12, KRAS codon 13, or BRAF were found in 112 endoscopic biopsy samples from 61 patients. CONCLUSION: Despite the presence of histological findings indicating long-standing gastroesophageal reflux in 25%, as well as symptomatic gastroesophageal reflux in more than 40%, there was no detectable tissue expression of KRAS or BRAF mutations in this cohort of patients.

Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations: 10-year national cohort from Finland.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis. This study was conducted to determine the national total prevalence and prenatal detection rates of CDH with heart defects and its association with major extra-cardiac malformations and to further evaluate the impact of the heart defect severity on survival. MATERIAL AND METHODS: A 10-year national cohort was derived from four national registries, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. The study cohort was sorted according to cardiac defect severity. RESULTS: The total prevalence of CDH with heart defects was 0.6/10 000 births and live birth prevalence 0.3/10 000 live births. Of 145 cases with CDH, 37 (26%) had a concurrent heart defect. The overall prenatal detection rate of heart defects was 41%. The total prevalence (483/10 000) and live birth prevalence (500/10 000) of hypoplastic left heart syndrome were 124 and 250 times higher than in the general population in Finland, respectively. Additional major extra-cardiac malformations were found in 68% of cases. The survival rate for CDH with major heart defects was 11 and 38% with minor heart defects. CONCLUSIONS: The total prevalence of hypoplastic left heart syndrome was significantly higher in CDH patients than in the general population in Finland. Prenatal detection rate for heart defects in CDH patients was 41%. Major extra-cardiac malformations were more common than previously reported. The prognosis of CDH with major heart defects remained poor.

Outcomes of fundoplication in oesophageal atresia associated gastrooesophageal reflux disease.

AIM OF THE STUDY: Conservative management of gastrooesophageal reflux (GORD) in oesophageal atresia (OA) is sometimes inefficient, and fundoplication is required. We assessed the outcomes of fundoplication among OA patients from 1980 to 2016. METHODS: After ethical consent, hospital records of 290 patients, including 22 referred patients, were reviewed. Included were 262 patients with end-to-end repair. Excluded were patients who underwent oesophageal reconstruction (n=23) or no repair (n=5). Primary outcome measures included survival, retaining the native oesophagus, resolution of GGORD symptoms, failure of fundoplication, and long-term endoscopic results. MAIN RESULTS: Gross types of OA in 262 patients were A (n=12), B (n=2), C (n=217), D (n=10), E (n=19), and F (n=2). Eighty-six (33%) patients, type A (n=12, 100%), B (n=2, 100%), C (n=69, 31%), D (n=3, 30%), and F (n=1, 50%), underwent fundoplication at the median age of 5.4 (IQR 3.1-16) months. Main indications included recalcitrant anastomotic stenosis (RAS) in 41 (48%), respiratory symptoms in 16 (19%), and acute life threatening events (ALTE) in 15 (17%) of patients. Associated tracheomalacia in 25 (29%) patients were treated with aortopexy. Median follow-up was 7.5 (IQR 1.8-15) years. RAS resolved in 30 (73%) patients, whereas 11 (27%) with unresolved RAS underwent oesophageal resection (n=8) or replacement (n=3). Six (7%) patients died of heart failure (n=4), bolus impaction (n=1), and ALTE (n=1). Fundoplication failed in 27 (31%) patients, and 13 (15%) underwent redo fundoplication. Fundoplication failure was predicted by long-gap OA RR=3.8 (95%CI=1.1-13), P=0.04. In total GORD associated symptoms persisted in 7 (8%) patients, including one with permanent feeding jejunostomy. Latest endoscopy showed moderate or severe oesophagitis in 7% of fundoplicated and in 3% nonfundoplicated patients and intestinal metaplasia in 3% and 1% (p=0.20-0.29). CONCLUSION: Fundoplication provided a safe and relatively effective control of OA associated symptomatic GORD and oesophagitis. The failure rate of fundoplication was high in those with long-gap OA. TYPE OF STUDY: Treatment study. LEVEL OF EVIDENCE: IV.

Social Morbidity in Relation to Bowel Functional Outcomes and Quality of Life in Anorectal Malformations and Hirschsprung's Disease.

BACKGROUND: Anorectal malformations (ARMs) and Hirschsprung's disease (HD) are chronic bowel conditions associated with varying degrees of fecal incontinence. We aimed to discuss the contemporary status of social morbidity associated with ARMs and HD in the long term after contemporary treatments. MATERIALS AND METHODS: The bowel functional outcomes of our recent institutional series up to adulthood were reviewed and compared for ARMs and HD. The Rintala score was used to evaluate bowel function, which includes an assessment of the social effects of the condition. In this study, the social outcomes in our population of patients with ARMs and HD were specifically analyzed in relation to the surveyed functional outcomes, our previously collected data on quality of life (QoL) and the current literature. RESULTS: Mild ARMs were associated with a minimal risk of social morbidity consistent with good outcomes. In severe ARMs and HD, social problems were reported steadily among all age groups studied. Impairment of domains of fecal control were present among 53 to 89% of patients with social problems, including frequent symptoms (>1/week) in up to 39%. Involuntary gas leakage contributed to social morbidity in 15 to 27%. Comparison with QoL data suggested that social morbidity experienced during childhood may continue to affect emotional domains of QoL in later life, despite improvements in bowel function by adulthood. CONCLUSION: Patients with severe ARMs and HD are at risk of social restrictions from impairment of bowel function despite contemporary surgical treatments. However, the QoL outcomes in adulthood may be more influenced by self-perceptions of illness formed from childhood than disease-specific factors. Strategies to reduce the psychological morbidity associated with these conditions that includes parental involvement from the outset may improve outcomes.

Current Management of Congenital Pulmonary Airway Malformations: A "European Pediatric Surgeons' Association" Survey.

AIM: To define current management of congenital pulmonary airway malformation (CPAM). METHODS: A total of 181 European Pediatric Surgeons' Association members (91% senior) from 48 countries completed an online questionnaire. MAIN RESULTS: Prenatal: 93% respondents work in centers with prenatal diagnosis facilities, and 27% in centers offering in utero surgery. Prenatal counseling is performed by 86% respondents, 22% of whom see >10 cases per year. Risk of single pre-/postnatal complications is deemed low (<5%) by more than 60% of respondents. Eighty-six percent respondents do not offer pregnancy termination for prenatally diagnosed CPAM. Fetal hydrops is the most frequent indication for termination (87%), followed by parental willingness (52%). Prenatal surgery is an option for 44% respondents, preferring thoracoamniotic shunt (82%).Postnatal: 75% respondents operate on asymptomatic patients, 18% before 6 months of age, 62% between 6 and 12 months of age, and 20% after 12 months of age. Risk of infection (86%), cancer (63%), and symptoms development (62%) are indications for surgery in asymptomatic CPAM. Sixty-three percent prefer a thoracotomy. Lobectomy is the preferred procedure (58% respondents). Motivations against surgery include lesion <1 cm (64%), risk of postoperative complications (37%), and lack of evidence favoring surgery (27%). Seventeen percent respondents have seen at least one patient with CPAM with lung cancer, in 89% of the cases within the CPAM. Of all the respondents, 83% and 22% offered dedicated follow-up and genetic screening, respectively. CONCLUSION: Current pre- and postnatal management of CPAM lacks uniformity, particularly for surgical indication, timing, and approach. Efforts should be made toward standardization. Risk of CPAM-associated cancer is not clear.

Long-term bowel function, quality of life and sexual function in patients with anorectal malformations treated during the PSARP era.

Anorectal malformations are an important group of congenital anomalies that vary widely in their anatomical characteristics and complexity. Understanding the long-term functional outcomes after modern treatments, and how these compare to the general population, are essential for ensuring that patients receive optimal, evidence-based care. With increasing appreciation of the wider impact of the illness on patients and their families, minimizing social disability from fecal incontinence and enabling normal social integration from the outset are key management concerns. This review summarizes the current knowledge on the functional outcomes by type of malformation, reflecting on the literature, and our institutional experience over a follow-up period of nearly 30 years.