Long-term gastrointestinal morbidity in patients born with gastroschisis: A national register-based cohort study.

OBJECTIVES: In gastroschisis, the intestines are exposed to amniotic fluid during pregnancy. The defect in the abdominal wall may also compress the mesentery and impair the intestinal blood supply. There is a varying degree of intestinal damage at birth. Complex gastroschisis is defined as gastroschisis with severe complications such as intestinal atresia, volvulus, necrosis and perforation. The aim of this study was to investigate long-term gastrointestinal morbidity and compare simple and complex cases. METHODS: A nation-wide retrospective cohort study with data from national registers was conducted. All children born with gastroschisis in Sweden from 1 January 1997 to 31 December 2016 were included in the study. Exposure was complex gastroschisis and the primary outcomes were intestinal failure and bowel obstruction. RESULTS: The study included 315 cases with gastroschisis, 260 classifieds as simple gastroschisis and 55 as complex. The median time to follow was 8 years. A significantly higher risk of developing intestinal failure (hazard ratio: 11.7) was found in complex cases. Nine percent of the complex cases underwent autologous gastrointestinal reconstructive surgery for intestinal failure, none of the simple cases did. The complex cases had a higher risk for bowel obstruction (hazard ratio: 4.3) with a higher proportion requiring surgery (18.2% vs. 6.9%) compared to simple cases. CONCLUSIONS: This nationwide study showed that the risk for intestinal failure and bowel obstruction is significantly higher for children with complex gastroschisis compared to simple gastroschisis. Most of the events occurred during the first 2 years of life.

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.

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.

Computed tomography diagnosed first time diverticulitis and colorectal cancer.

BACKGROUND: Computed tomography (CT) with intravenous contrast is the gold standard for diagnosing diverticulitis. Published results concerning follow-up colonoscopy after an episode of acute diverticulitis to rule out cancer are conflicting. This study aimed to evaluate the risk of underlying colonic malignancy in patients diagnosed with a first time diverticulitis with a state of the art CT investigation with intravenous contrast. METHODS: Retrospective analysis of all patients with a first episode of diverticulitis diagnosed with CT at Danderyds Hospital, Stockholm, between January 1, 2015, and November 16, 2016. Data on modified Hinchey classification, age, sex, laboratory parameters, body mass index, and colonoscopy findings were recorded. RESULTS: The study identified 518 patients with a CT-verified first time diverticulitis. Four hundred twenty-six (82%) of the 518 patients underwent follow-up colonoscopy and constitute our study cohort. CT showed that 402 patients had uncomplicated diverticulitis (modified Hinchey Ia), and 24 patients had complicated diverticulitis (modified Hinchey ≥Ib). Colonoscopy showed cancers in 2 (0.5%) of the 426 patients initially diagnosed as acute diverticulitis. In addition, 13 (3%) patients had advanced adenomas, and 121 (28%) patients had benign adenomas upon follow-up colonoscopy. Patients with CT-verified complicated diverticulitis (modified Hinchey ≥Ib) had a significantly higher risk for colon cancer compared with patients with an uncomplicated first time diverticulitis. CONCLUSION: Our study supports routine follow-up colonoscopy after a first episode of CT-diagnosed complicated diverticulitis. In contrast, we do not find an increased risk for neoplasia in patients with uncomplicated diverticulitis.

Prevalence of Beckwith Wiedemann Syndrome and Risk of Embryonal Tumors in Children Born with Omphalocele.

AIM OF THE STUDY: Children with omphalocele have an increased prevalence of Beckwith Wiedemann syndrome (BWS) and thus a suspected increased risk of developing embryonal tumors, e.g. Wilms tumor, hepatoblastoma, neuroblastoma and rhabdomyosarcoma. The aim of this study was to examine the prevalence of BWS and the risk of embryonal tumors amongst patients born with omphalocele. METHODS: A population-based cohort was used, including all children born in Sweden 1/1 1997-31/12 2016. Patients with omphalocele were identified through the Swedish National Patient Register and the Swedish Medical Birth Register. For each case of omphalocele ten age and sex matched individuals unexposed for omphalocele were randomly selected for comparison. Data on BWS and embryonal tumors were collected from the Swedish National Patient Register and the Swedish National Cancer Register. MAIN RESULTS: Out of 207 cases of omphalocele, 15 (7.2%) were diagnosed with BWS. None of the children with omphalocele had yet developed any kind of embryonal tumor (median follow-up time 8 years). None of the 2070 controls were diagnosed with BWS but 3 (0.1%) of them had developed embryonal tumors during a median follow-up time of 10 years. CONCLUSIONS: In this study the prevalence of BWS amongst children born with omphalocele is in the lower range of previously reported figures. Also, the prevalence of embryonal tumors amongst children with BWS is lower than expected and the risk of embryonal tumors in children with omphalocele and BWS might not be as high as previously stated. This must be taken into consideration when counseling parents prenatally. TYPE OF STUDY: National register cohort study. LEVEL OF EVIDENCE: II.