Bowel function, urinary tract function, and health-related quality of life in males with anorectal malformations.

PURPOSE: There is a knowledge gap regarding long-term outcomes for males undergoing surgery for an anorectal malformation (ARM). The purpose of this study was to investigate bowel function, bladder function, and health-related quality of life (HRQoL) in male patients with an anorectal malformation. METHODS: This cross-sectional questionnaire-based study included males treated for ARM at our institution between 1994 and 2017. Bowel function was assessed with bowel function score (BFS) while urinary tract function was assessed with lower urinary tract symptoms (LUTS) questionnaires. Health-related quality of life (HRQoL) was investigated using age-relevant questionnaires (KIDSCREEN and PGWBI). Patient characteristics were retrospectively collected from the medical records and descriptive statistics were used for analysis. Functional outcomes were compared with gender and age-matched controls while HRQoL was compared to normative data. The study was approved by ethics review authorities. RESULTS: A total of 58 (44.6%) of 130 males responded to the questionnaires. Regarding bowel function, 24 (42.1%) of 57 patients and 81 (95.3%) of 85 controls, respectively, reported a well-preserved bowel function represented by a BFS ≥ 17 (p < 0.001). Soiling issues and 'feels urge' items improved significantly with age. In a linear regression model, BFS increased significantly with age. For most parameters, the proportion of ARM patients with lower urinary tract symptoms was larger, though not significantly, compared to the controls. However, straining and stress incontinence were reported significantly more often by ARM patients. In patients and controls, voiding outcomes in terms of prevalence of having symptoms and the number of cumulative symptoms drop with increasing age. Children and adults reported similar or, in some domains, better HRQoL outcomes when compared to normative European data. CONCLUSION: Bowel function is impaired in male patients with ARM but significantly improves with age. Urinary tract function was affected, but overall comparable to the controls. HRQoL was unaffected. No significant association between the studied outcomes could be shown. LEVEL OF EVIDENCE: III.

National Centralization of Hirschsprung's Disease in Sweden:A Comparison of Preoperative Management and Outcomes.

BACKGROUND: Surgical treatment of Hirschsprung's disease (HSCR) in Sweden was centralized to two tertiary pediatric surgery centers 1st of July 2018. Although complex surgical care in adults seems to benefit from centralization there is little evidence to support centralization of pediatric surgical care. The aim of this study was to assess centralization of HSCR in Sweden, with special consideration to preoperative management and outcomes in this group of patients. METHODS: This study retrospectively analyzed data of patients with HSCR that had undergone or were planned to undergo pull-through at our center, from 1st of July 2013 to 30th of June 2023. Patients managed from 1st of July 2013 to 30th of June 2018 were compared with patients managed from 1st of July 2018 to 30th of June 2023 regarding diagnostic procedures, preoperative treatment, complications and time to definitive surgery. RESULTS: Thirty-six patients were managed during the first five-year period compared to 57 during the second period. There was an increased number of patients referred from other Swedish regions to our center following the centralization. Time from diagnosis to pull-through increased from 33 to 55 days after centralization. There were no significant differences in pre-operative management or complications, general or related to stoma. CONCLUSIONS: Despite increasing patient volumes and longer time from diagnosis to pull through, centralization of care for HSCR does not seem to change the preoperative management and risk of complications. With access to support from the specialist center, transanal irrigations remain a safe mode of at home management until surgery, regardless of distance to index hospital. LEVEL OF EVIDENCE: Level III.

Functional and Health-Related Quality of Life Outcomes into Adulthood for Females Surgically Treated for Anorectal Malformation.

BACKGROUND: Controlled outcomes into adulthood for females with anorectal malformation (ARM) are still scantily studied. The primary aim was to investigate bowel function, bladder function and health-related quality of life (HRQoL) in females operated for ARM. METHODS: A cross-sectional questionnaire-based observational study was performed including females treated for ARM at our institution between 1994 and 2017. The bowel function was assessed with bowel function score (BFS) and urinary tract function with lower urinary tract symptoms (LUTS) questionnaires. HRQoL was investigated with validated age-dependent questionnaires. Patient characteristics were retrospectively retrieved from the medical records and descriptive statistics were used for analysis. HRQoL outcomes were compared with normative data whilst bowel and bladder function outcomes were compared to age-matched female controls. RESULTS: Forty-four (41.5 %) of 106 females responded to the questionnaires. Ten of 29 patients (34.5 %) aged 4-17 years and 4 of 14 patients (28.6%) aged ≥18 years, reported a well-preserved bowel function (BFS≥17). Constipation issues decreased with age. BFS was similar in patients with perineal and vestibular fistulas. Thirty-six (83.7%) of the patients had at least one LUTS. No adult patients had issues with involuntary urinary leakage. Adults scored significantly (p = 0.004) lower than normative data regarding HRQoL, while children and adolescents scored comparably to norm data. CONCLUSIONS: Only 28.6 % of the adult patients reported a well-preserved bowel function, similar to the proportion reported by children 4-17 years of age. Adult patients appear to have a diminished HRQoL, however the correlation with BFS was weak. LEVEL OF EVIDENCE: III.

Omphalocele: national current birth prevalence and survival.

PURPOSE: The increase in prenatal diagnosis together with the high rates of associated anomalies in omphalocele has led to increased rates of termination of pregnancies. The aim of this study was to examine the national Swedish birth prevalence and survival rates among these patients. METHODS: This study is based on a nationwide population-based cohort of all children born in Sweden between 1/1/1997 and 31/12/2016. All omphalocele cases were identified though the Swedish National Patient Register and the Swedish Medical Birth Register. Outcome of malformations and deaths were retrieved from the Swedish Birth Defects Register and the Swedish Causes of Death Register. RESULTS: The study included 207 cases of omphalocele (42% females). The birth prevalence for omphalocele was 1/10,000 live births. About 62% of the cases had associated malformations and/or genetic disorders; most common was ventricular septal defect. The mortality within the first year was 13%. The rate of termination of pregnancy was 59%. CONCLUSION: The national birth prevalence for omphalocele in Sweden is 1/10,000 newborn, with high termination rates. Over half of the pregnancies with prenatally diagnosed omphalocele will be terminated. Among those who continue the pregnancy, 1-year survival rates are high. TYPE OF STUDY: National register study LEVEL OF EVIDENCE: III.

National birth prevalence, associated anomalies and mortality for gastroschisis in Sweden.

AIM: An increased incidence has been reported for the congenital abdominal wall defect gastroschisis. The reason for this increasing trend is not known, nor the aetiology. The aim of this study was to examine the national birth prevalence in Sweden, the termination rate, associated anomalies and the mortality of gastroschisis within the cohort. METHODS: A nationwide, population-based descriptive study of children born with gastroschisis in Sweden between 1/1 1997 and 31/12 2016 was conducted. The cohort was collected from the Swedish Medical Birth Register and the Swedish National Patient Register. Several other national registers were then interlinked to identify outcome data. RESULTS: The study included 361 cases of gastroschisis, 54% female. The birth prevalence was 1.52 in 10,000 live births. The termination rate was 21%. The mortality within the cohort was 4.4% with a 1-year mortality of 3.9%. Most frequent associated anomalies were gastrointestinal (11.4%), musculoskeletal (9.8%) and cardiovascular anomalies (7.9%). CONCLUSION: During the 20-year study period, a stable birth prevalence of 1.52 per 10 000 live births was seen in Sweden. The mortality was low, 4.4%, but the termination of pregnancies was high, 21%. Almost one-third had associated congenital anomalies where gastrointestinal anomalies were the most common.

Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease.

BACKGROUND AND OBJECTIVES: Hirschsprung disease (HSCR) is a congenital defect of the enteric nervous system characterized by a lack of ganglion cells in the distal hindgut. The aim of this study was to assess the birth prevalence, perinatal characteristics, and maternal risk factors in HSCR patients in Sweden. METHODS: This was a nationwide, population-based, case-control study of all children born in Sweden between 1982 and 2012 and registered in the Swedish Medical Birth Register. Cases were identified in the Swedish National Patient Register and data on potential maternal risk factors and patient characteristics were collected from the Swedish National Patient Register and the Swedish Medical Birth Register. Five age- and sex-matched controls were randomly selected for each case. The association between studied risk factors and HSCR was analyzed using conditional logistic regression to calculate the odds ratio (OR) and 95% confidence interval (CI). RESULTS: The study population comprised 600 HSCR cases and 3000 controls with a male-to-female ratio of 3.7:1. The birth prevalence of HSCR was 1.91/10 000. Maternal obesity was associated with an increased risk for the child to have HSCR (OR 1.74; CI 1.25-2.44). Children with HSCR were born at an earlier gestational age (OR 1.60; CI 1.18-2.17) than control children. Associated malformations were identified in 34.5% of the cases. CONCLUSIONS: This study showed that the Swedish birth prevalence of HSCR was 1.91/10 000. Children with HSCR disease were born at a lower gestational age than controls. Maternal obesity may increase the risk for the child to have HSCR.

Reproductive history and risk of colorectal adenocarcinoma.

BACKGROUND: Sex hormones may be associated with colorectal adenocarcinoma, although the association of pregnancy history and risk of colorectal cancer is not consistent. METHODS: We conducted a population-based nested case-control study of persons born between 1932 and 2008 who are in the Swedish Multi-Generation Register. In total, 12,915 women and 15,519 men with colorectal adenocarcinoma were identified during follow-up in the Swedish Cancer Register; 10 age- and sex-matched controls were selected for each case. Number of children and age at first and last birth were analyzed in relation to the risk of colorectal adenocarcinoma, using conditional logistic regression, to estimate odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS: Compared with women without children, women with 1 or 2 children had an OR of 1.02 (95% CI = 0.93-1.13) of developing adenocarcinoma in the proximal colon; those with 3 or 4 children, 1.18 (1.06-1.32); and those with ≥5 children, 1.30 (1.05-1.61) (test for trend P < 0.01). The corresponding associations in men were 0.92 (0.84-1.00), 1.02 (0.92-1.13), and 0.97 (0.78-1.20), respectively (test for trend P = 0.13). CONCLUSIONS: Higher parity in women was associated with the risk of adenocarcinoma of the proximal colon, although not the distal colon or rectum. A similar risk with family size was not seen for fathers. Still, the influence of lifestyle factors cannot be ruled out.

Aspects of esophageal atresia in a population-based setting: incidence, mortality, and cancer risk.

PURPOSE: To estimate the incidence, mortality and cancer risk of the congenital malformation esophageal atresia (EA) in a population-based investigation. METHODS: A population-based cohort study of EA patients registered in three nationwide registers in Sweden in 1964-2007. The incidence of EA per total number of live births was assessed. Mortality and cancer occurrence were expressed as standardized mortality ratio (SMR) and standardized incidence ratio (SIR) with 95% confidence intervals (CI). Mortality was further analyzed by Cox regression and expressed as hazard ratio with 95% CI. RESULTS: The EA cohort comprised 1,126 patients. The mean incidence was 3.16 per 10,000 live births, without any temporal changes (p for trend =0.94). Associated anomalies were present in 42% and chromosomal abnormalities in 5%. EA patients had an almost 12 times higher risk of mortality compared to the background population (SMR 11.8, 95% CI 10.3-13.5). The mortality increase was most pronounced during the first 5 years after birth. Survival improved during the study period (p for trend =0.0001). EA did not entail a strongly increased cancer risk (SIR 0.9; 95% CI 0.2-2.6). CONCLUSIONS: EA has a stable incidence, the survival has improved substantially during recent decades, and the cancer risk might not be increased.

Maternal diabetes and risk of esophageal atresia.

BACKGROUND: The etiology of esophageal atresia is poorly understood. The incidence of some congenital malformations is increased in children of mothers with diabetes, but the role of maternal diabetes in esophageal atresia development in the infant is unknown. We hypothesized that maternal diabetes increases the risk of esophageal atresia in the infant. METHODS: A population-based, matched case-control study, nested within a cohort of neonates born in Sweden in January 1, 1982 through December 31, 2007, was undertaken. Conditional logistic regression was used to calculate relative risks, expressed as odds ratios with 95% confidence intervals. Adjustment for confounding was made through matching and by multivariable regression. RESULTS: Among 2,625,436 newborn infants in the study cohort, there were 780 cases of esophageal atresia, and 7,800 infants were matched and randomly selected as controls. Exposure to preexisting or gestational diabetes was more frequent in the mothers of the case group (n = 18; 2.3%) than in those of the control group (n = 103; 1.3%). The adjusted risk of esophageal atresia was 70 % higher among infants of women with diabetes than among women without diabetes (odds ratio, 1.7; 95% confidence interval, 1.0-2.9). CONCLUSIONS: Maternal diabetes might increase the risk of esophageal atresia in the child.

Maternal tobacco smoking, obesity, and low socioeconomic status during early pregnancy in the etiology of esophageal atresia.

BACKGROUND: The etiology of the congenital malformation esophageal atresia (EA) is essentially unknown. We hypothesized that maternal tobacco smoking, obesity, and low socioeconomic status (SES) during early pregnancy might increase the risk of the fetus developing EA. METHODS: A nationwide, population-based, case-control study was nested in a cohort of children born in Sweden in 1982 to 2004. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using logistic regression. Matching, stratification, and multivariable regression were used to control for confounding. RESULTS: Among 2,305,858 newborn children constituting the study cohort, 722 cases of EA and 3610 controls were included. For women smoking 10 cigarettes or more daily, the adjusted OR was 0.88 (95% CI, 0.62-1.25) compared to nonsmokers. For obese women (body mass index, >30), OR was 0.99 (95% CI, 0.64-1.55) compared to lean women (body mass index, <20). Women with more than 12 years of formal education, representing SES, had an OR of 0.94 (95% CI, 0.69-1.29) compared to those with less than 10 years of education. The lack of association remained in stratified analyses of isolated EA and EA accompanied by associated malformations. CONCLUSION: This study provides evidence refuting the hypotheses of an increased risk of EA among children of women who smoke, are obese, or have a low SES during early pregnancy.

Influence of maternal parity, age, and ethnicity on risk of esophageal atresia in the infant in a population-based study.

BACKGROUND: The etiology of esophageal atresia (EA) is virtually unknown. We hypothesized that the maternal factors low parity, high age, and white ethnicity are involved. METHODS: A Swedish nationwide, population-based, case-control study was nested in a cohort of newborn children in 1982 to 2004. Among 2,305,858 deliveries, 722 cases of EA and 3610 controls were included. Conditional logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Matching, stratification, and multivariable regression were used to adjust for potential confounding. RESULTS: A more than 30% decreased risk of EA was found for mothers delivering their second (OR, 0.68; 95% CI, 0.56-0.83) or third child (OR, 0.64; 95% CI, 0.49-0.83) compared to primiparous mothers. Children of women giving birth when 35 to 40 years and older than 40 years showed a 2-fold (OR, 2.09; 95% CI, 1.09-3.99) and 3-fold (OR, 3.04; 95% CI, 1.37-6.74) increased risk of EA, respectively, compared to those of mothers younger than 20 years. This association remained when chromosomal abnormality cases were excluded (P = .004). There was a 66% increase in risk of isolated EA in children of mothers of white (OR, 1.66; 95% CI, 1.06-2.61), compared to mothers who are not of white ethnicity. CONCLUSIONS: This study indicates an increased risk of EA in children of mothers having their first delivery, of older age, and of white ethnicity.