CLINICAL FEATURES OF THE COURSE OF HIRSCHSPRING'S DISEASE INCHILDREN OF THE FIRST YEAR.

The purpose of the work - to investigate the peculiarities of the clinical course of Hirschsprung's disease in children of the first year of life and to determine the significance of symptoms in the verification of the disease. From 1980 to 2021, at the pediatric surgery clinic of the National Medical University named after O.O. Bogomolets on the basis of the National Children's Specialized Hospital "OKHMATDYT" and in the pediatric surgery clinic of the Ivano-Frankivsk National Medical University on the basis of the Ivano-Frankivsk Regional Children's Clinical Hospital, 483 children of the first year of life suffering from Hirschsprung's disease were examined and treated. The clinical manifestation and course of aganglionosis varied in length at the time of hospitalization and depended on the time after birth. During the first month of life, 97 (20.08%) patients were hospitalized, of which 39 (8.07%) hadatypical clinical picture due to: colonic atresia in 15 (3.10%), colonic atresia + gastroschisis in 3 (0.62%), ileal atresia in 9 (1.86%), esophageal atresia in 3 (0 .62%), clefts of the hard and soft palate in 9 (1.86%). Depending on the age, there were 280 (57.97%) patients under 6 months, and 203 (42.03%) patients between 6 months and 1 year. The classic typical clinical picture was in 444 (91.93%) patients, which was characterized by the absence of meconium excretion, abdominal distension in 444 (91.93%), delayed physiological weight gain against the background of nutritional insufficiency with the development of hypotrophy in 327 (67.70%) , vomiting of stagnant gastric and intestinal contents in 417 (86.34%). On the other hand, enterocolitis in 315 (65.22%), toxic megacolon in 16 (3.31%), and anemia of various degrees occurred in 241 (49.89%) patients among the complications that arose during the examination of patients with Hirschsprung's disease. According to the results of a comprehensive examination, the following extent of aganglionosis was established: rectal in 100 (20.70%), rectosigmoid in 192 (39.75%), subtotal in 150 (31.06%) and total in 41 (8.49%) patients. Concomitant malformations were found in 98 (20.29%) patients: renal malformations were diagnosed in 7 (1.45%) patients, concomitant heart malformations in 18 (3.73%) patients. Associated intraoperative findings were Meckel's diverticulum in 5 (1.03%) and congenital cyst of the right ovary in 1 (0.21%) patient. The clinical course was affected by concomitant malformations: incomplete bowel rotation in 10 (2.07%) and internal abdominal hernia in 2 (0.42%). The clinical manifestations and course of Hirschsprung's disease primarily depend on the presence of accompanying developmental defects, which may prevail during the examination due to vital disorders. In the clinical course of Hirschsprung's disease, it is necessary to distinguish between typical and atypical forms. Typical clinical symptoms were in 444 (91.93%), and atypical in 39 (8.07%).

The profile and outcome of small bowel atresia at Universitas Academic Hospital.

BACKGROUND: In patients with intestinal atresia, associated congenital anomalies and prematurity are the main predictors of mortality in high-income countries (HIC). In low-and middle-income countries (LMIC), late referrals and lack of resources contribute to mortality. This study aims to describe the outcome of small bowel atresia at a tertiary institution in a LMIC. METHODS: A retrospective descriptive and analytical study was done on all neonates admitted with small bowel atresia from 1 January 2010 to 31 October 2016. Birth demographics, status on arrival, atresia type, surgical interventions and clinical course were analysed in relation to outcomes including mortality. RESULTS: The study included 92 patients. Thirty-three patients had duodenal atresia and 59 jejunal atresia. Median gestation was 34 weeks, with average birth weight 2.2 kg. Seven were diagnosed antenatally and 13 (14.1%) were born in a tertiary institution. A cardiac congenital anomaly was present in 43.5%. Late referrals comprised 72.8%. Sixty per cent were dehydrated and 55.4% were septic on arrival. The median age at surgery was 7.5 days after being admitted, for a median of 2 days. The median age reaching full feeds was 18 days, and 28.6% had a feeding intolerance. The median number of septic episodes were two and the median length of stay 28 days. Of the 92 patients, 8.7% were palliated and 10.9% died. Mortality was strongly associated with prematurity and sepsis with hospital stay. CONCLUSION: Despite late referrals, our mortality was comparable to HICs. We overcame this burden due to access to resources, sophisticated equipment and a low surgical complication rate. The length of stay could be decreased with a feeding protocol and discharge goals.

Effect of trisomy 21 on long-term gastrointestinal outcomes in duodenal atresia.

PURPOSE: We aimed to determine if Trisomy 21 (T21) affected gastrointestinal outcomes for children with duodenal atresia (DA). METHODS: We identified children born with DA between 1991 and 2017. Cases were divided into DA with T21 and DA without T21. Ten healthy controls per case were included. Esophageal, ulcerative, obstructive and stomach complaints were assessed. Risk ratios (RR), rate ratios (RaR) and Cox models were constructed. Analyses were performed for cases versus controls, and for T21 cases versus non-T21 cases. RESULTS: DA cases totaled 52: 22 had T21 and 30 did not. There were 520 controls. DA cases had more gastrointestinal complaints than controls. T21 cases were at greater risk and frequency of esophageal disease than non-T21 cases (RR = 4.08, p = 0.002, RaR = 69.8, p < 0.001). T21 and non-T21 cases were equally likely to present with obstruction (RR = 0.91, p = 1), but T21 cases complained of obstructive symptoms less (RaR = 0.57, p = 0.003). T21 and non-T21 cases had the same risk of stomach diseases, but T21 cases complained more frequently (RaR = 6.20, p < 0.001). Cox models supported these observations. T21 did not affect ulcerative diseases. CONCLUSION: DA cases had more gastrointestinal problems than controls. T21 increased esophageal and gastric complaints in DA cases but did not affect ulcerative and obstructive complaints.

Predictors of Survival: A Retrospective Review of Gastroschisis and Intestinal Atresia in Rwanda.

INTRODUCTION: Neonatal surgical diseases are prime examples of the global disparity in surgical access and outcomes, with survival for conditions like gastroschisis reaching above 95% in high-income settings but usually fatal in low-income settings. This study aims to examine outcomes and predictors of mortality in patients with two specific neonatal surgical conditions that often require early transfer and prolonged inpatient care (gastroschisis and intestinal atresia) at Rwanda's main pediatric referral hospital. METHODS: A single-institution retrospective chart review of neonates with gastroschisis and intestinal atresia was conducted between January 2016 and June 2019. Abstracted data included demographics, referral history, admission interventions, operative details, in-hospital complications, nutrition patterns, length of stay, and mortality. Daily logs were created to evaluate feeding status, infection status, and antibiotic usage. Descriptive and univariate analysis was conducted, with the primary outcome being survival to hospital discharge. RESULTS: A total of 112 patients met inclusion criteria (82% gastroschisis [n = 92] and 18% intestinal atresia [n = 20]). Median age at arrival was 0 d (GS) [IQR 0-1 d] and 8.5 d (IA) [IQR 4-10 d] (P < 0.0001). Survival to discharge was 22.8% (GS) (n = 21) and 60% (IA) (n = 12) with a mean length of stay of 28.3 d (GS) and 18.4 d (IA). The median number of days to initiation of oral feeds was 8.5 d [IQR 7-11] for gastroschisis survivors. CONCLUSIONS: Neonatal surgical conditions that require early transfer and prolonged nutritional intervention are challenging in low-resource settings, but through treatment by a comprehensive pediatric surgical service, improving survival is possible.

Laparoscopy-Assisted Versus Open Surgery in Treating Intestinal Atresia: Single Center Experience.

INTRODUCTION: Surgical management of jejuno-ileal atresia/stenosis (JIA) is shifting to a minimally invasive approach. Our purpose is to evaluate the safety and feasibility of laparoscopy-assisted surgery (LAS) in JIA by comparing outcomes with a control group of open surgery (OS). METHODS: A retrospective review of JIA cases was performed. Demographic, surgical, and outcomes data were extracted. LAS cases were compared with OS. Fisher's exact-test for qualitative and Mann-Whitney-test for quantitative values were used. p values <0.05 were considered significant. RESULTS: Forty-seven patients (24/23, F/M) were included. In 19 (40%), the LAS technique was successfully performed, while 3 (17%) required conversion to OS. No differences were observed between the LAS and OS (n = 28) groups concerning demographic data (sex, mean gestational age, mean weight, associated anomalies) and type of JIA. Operative time was shorter in LAS (112 ± 46 min) compared to OS (138 ± 40 min), p = 0.04. Time to start enteral feeding and time to full enteral was shorter in LAS compared to OS, p = 0.04. No difference was observed between the two groups concerning duration of parenteral nutrition, length of hospitalization and weight at discharge. Overall rate of postoperative complications was 14% (n = 7), with a slightly prevalence in OS (18%) compared to LAS (10%), p = 0.68. CONCLUSIONS: The LAS technique in the treatment of neonatal JIA is safe and feasible. LAS is associated with shorter operative and restoration of enteral feeding times. The post-operative outcomes in LAS are similar with OS, with a lower rate of postoperative complications.

Immune function and infectious complications in children with jejunoileal atresia.

OBJECTIVE: Little is known about differences in immune function among children with multiple intestinal atresia (MIA) and those with isolated intestinal atresia (IA), and how such differences may manifest as infectious complications and patient outcomes. This study aimed to investigate the immune function and its impact on patient outcomes in IA and MIA children. METHODS: A single-center retrospective cohort study included children aged 0-19 years with intestinal atresia who were referred to a multidisciplinary intestinal rehabilitation program from 1/2000 to 12/2016. Data were collected for patient characteristics, surgical history, immunologic work-up, and infection-related hospitalizations. Groups of IA and MIA children were compared using chi-square test or Fisher's exact test for categorical variables and using Mann-Whitney test for continuous variables, as appropriate. RESULTS: Twenty-seven children (18 IA, 9 MIA) were included. More than half of the patients had low CD counts for age in IA and MIA groups: CD3 58.3% vs. 66.7% (p = 1.0), CD4 50.0% vs. 66.7% (p = 0.7), CD8 67.7% vs. 88.9% (p = 0.3), respectively. Six out of 12 IA children and 3 out of 8 MIA children had hypogammaglobulinemia (p = 0.7). Three out of 10 IA patients and 3 out of 5 MIA children had frequent bacteremia (≥5/year). Eight children (6 IA and 2 MIA) underwent intestinal and/or liver transplant; MIA children had a worse posttransplant outcome. CONCLUSIONS: IA children may have an immunodeficiency and associated infectious complications requiring hospitalization. We suggest performing immunologic evaluation not only in MIA but also in IA children presenting to an intestinal rehabilitation program to identify immunodeficiency. Early immunodeficiency screening may help initiate appropriate intervention and improve patient outcomes. LEVEL OF EVIDENCE: Level III.

Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. OUTCOME MEASURES: Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. RESULTS: Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. CONCLUSIONS: Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities. LEVEL OF EVIDENCE: Level III.

Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature.

PURPOSE: To determine the true incidence of associated intestinal atresia (AIA) in infants with duodenal atresia (DA) and to analyze whether the surgical approach, open versus laparoscopic, would impact on patient outcome when AIA is present. METHODS: Cohort study We review all DA infants treated at our institution (2001-2016) and analyzed the outcome of those with AIA. Systematic review/meta-analysis Using a defined search strategy and according to PRISMA guidelines, two investigators independently identified all studies on DA and searched cases of AIA to determine its incidence. Data are mean ± SD. RESULTS: Cohort study Of 140 DA infants, 10 (7%) had AIA (4 type I, 4 type III, 2 type II). All type I AIA (webs) were found in the duodenum. Systematic review/meta-analysis Of 840 studies, 18 were included (2026 infants). The incidence of AIA was 2.8 ± 1.6%. The incidence of missed AIA was 0.8 ± 2.4%. Three comparative studies (759 infants) showed higher risk of missed AIA following laparoscopic (2.9 ± 2.4%) than open repair (0.3 ± 0.1%; p < 0.01). CONCLUSIONS: The incidence of AIA in DA infants is low and the risk of missing it is higher at laparoscopy than at laparotomy. Regardless the approach, surgeons should carefully investigate bowel continuity to avoid the risk of missing AIA.

A safe and efficacious preventive strategy in the high-risk surgical neonate: cycled total parenteral nutrition.

INTRODUCTION: Hepatic dysfunction in patients reliant on total parenteral nutrition (TPN) may benefit from cycled TPN. A concern for neonatal hypoglycemia has limited the use of cycled TPN in neonates less than 1 week of age. We sought to determine both the safety and efficacy of cycled TPN in surgical neonates less than 1 week of age. METHODS: A retrospective chart review was conducted on surgical neonates placed on prophylactic and therapeutic cycled TPN from January 2013 to March 2016. Specific emphasis was placed on identifying incidence of direct hyperbilirubinemia and hypoglycemic episodes. RESULTS: Fourteen neonates were placed on cycled TPN; 8 were prophylactically cycled and 6 were therapeutically cycled. Median gestational age was 36 weeks (34, 37). Sixty-four percent (n = 9) had gastroschisis. There was no difference between the prophylactic and therapeutic groups in incidence of hyperbilirubinemia > 2 mg/dL (3 (37%) vs 5 (83%), p = 0.08) or the length of time to development of hyperbilirubinemia [24 days (4, 26) vs 27 days (25, 67), p = 0.17]. Time on cycling was similar though patients who were prophylactically cycled had a shorter overall time on TPN. Three (21%) infants had documented hypoglycemia, but only one infant became clinically symptomatic. CONCLUSION: Prophylactic TPN cycling is a safe and efficacious nutritional management strategy in surgical neonates less than 1 week of age with low rates of hypoglycemia and a shorter total course of TPN; however, hepatic dysfunction did not appear to be improved compared to therapeutic cycling.

Is the Bishop-Koop procedure useful in severe jejunoileal atresia?

PURPOSE: The aim of this study was to report our experience using the Bishop-Koop procedure for the treatment of various surgical problems of jejunoileal atresia including luminal discrepancy, complex meconium peritonitis, type IIIb and type IV atresia which we defined as severe jejunoileal atresia. METHODS: This retrospective study was performed on the patients with severe jejunoileal atresia who underwent Bishop-Koop procedure at a tertiary center in China over a five year of period. The mortality, complication rate, nutrition status and the risk factors for postoperative adverse outcomes were explored. RESULTS: A total of 41 neonates underwent the Bishop-Koop procedure. The median duration of the hospital stay and total parenteral nutrition and the point at which oral feeding was initiated postoperatively were 24 days (95% CI =18.99-29.01), 13 days (95% CI = 9.03-16.97) and 11 days (95% CI = 10.17-11.83) respectively. The mortality rate was 7.32% (3/41). The complication rate was 41.4% (17/41) including anastomotic leak, intestinal obstruction, high output stoma and cholestasis. The weight for age Z-score at stoma closure was restored to normal levels (-0.86, 95% confidence interval (CI) = -1.44, -0.28). The main factor associated with adverse outcomes in severe jejunoileal atresia was premature delivery (odds ratio (OR) = 4.44, 95% CI = 1.06-18.67). CONCLUSIONS: Bishop-Koop procedure appears to be a technically efficient method for severe jejunoileal atresia, although larger studies are needed to compare Bishop-Koop procedure and other operation techniques. TYPE OF STUDY: Therapeutic. LEVEL OF EVIDENCE: Level IV.

Presentation and outcome of treatment of jejunoileal atresia in Nigeria.

BACKGROUND: Intestinal atresia is a common cause of neonatal intestinal obstruction. Previous reports from Nigeria have indicated a high mortality rate. This is a report of current outcome review from one tertiary center. PATIENTS AND METHODS: A retrospective analysis of infants managed for jejunoileal atresia in 10 years (2005-2014). The information retrieved from patients' records was analyzed using SPSS 17. RESULTS: There were 38 patients (19 boys and 19 girls) aged 1-28 days (median 4 days). Twenty-four patients (63.2%) presented after 48 h of life. Twenty-five (65.8%) had jejunal atresia and 13 (34.2%) had ileal atresia. Six patients had associated anomalies. The most common atresia was type III (39.5%, 15 patients). Twenty-eight (73.7%) patients had a resection of the atresia and anastomosis and others had enterostomies. Total parenteral nutrition and neonatal intensive care support were not available during the period of the study. Bowel function was established within 1 week and 27 (71.1%) patients commenced oral feeding. Twenty-six (68.4%) patients had postoperative complications resulting in prolonged hospital stay of 2-44 days (median = 13). Mortality was 34.2% (13 patients). Factors that significantly affected mortality were intestinal necrosis at presentation, postoperative complications, and severe malnutrition. CONCLUSION: Intestinal atresia is still associated with unacceptably high morbidity and mortality, due to late presentation, and lack neonatal intensive care services and parenteral nutritional support. Efforts need to be intensified to address these factors to improve outcome.

Risk factors and short outcome of bowel atresia in neonates at Tertiary Hospital.

BACKGROUND: Bowel atresia is a rare congenital anomaly that could affect any part of the bowel. It is categorized based on the type and location of the affected bowel with jejunoileal being the most common type worldwide. Risk factors for developing intestinal atresia are not well established, but we know that genetics, poor prenatal care, and low birth weight are considered risk factors. PATIENTS AND METHODS: This is a case-control study conducted in King Abdulaziz Medical City tertiary hospital in Nursery Intensive Care Unit from 2004 to 2015 with a total number of 50 cases. Each case was matched with two control groups: a female and a male; the matching was based on the date of birth. RESULTS: Our study showed an interesting results with esophageal atresia being the most common type (n = 16, 32%) after that jejunoileal (n = 11, 22%). Both genders were affected almost equally with no gender predominance. Twenty-six (51%) of the cases were having below normal birth weight (odds ratio [OR] =0.07; 95% confidence interval [CI] =0.03-0.2). One mother of the control groups had cesarean section in comparison to 15 mothers from the cases (OR 42.4; 95% CI 5.4-333.09). The study also showed that there is no correlation between the number of pregnancies and the risk of atresia (P = 0.798) (OR 0.9; 95% CI 0.72-1.3). CONCLUSION: Unlike western countries, esophageal atresia was the most common type with no gender differences. Interestingly, both groups had high rates of low birth weight.

Contemporary Outcomes of Infants with Gastroschisis in North America: A Multicenter Cohort Study.

OBJECTIVE: To quantify outcomes and analyze factors predictive of morbidity and mortality in infants with gastroschisis. STUDY DESIGN: Clinical data regarding neonates with gastroschisis born between 2009 and 2014 were prospectively collected at 175 North American centers. Multivariate regression was used to assess risk factors for mortality and length of stay (LOS). RESULTS: Gastroschisis was diagnosed in 4420 neonates with median birth weight 2410 g (IQR 2105-2747). Survival (discharge home or alive in hospital at 1 year) was 97.8% with a 37 day median LOS (IQR 27-59). Sepsis, defined by positive blood or cerebrospinal fluid culture, was the only significant independent predictor of mortality (P = .04). Significant independent determinants of LOS and the percentage of neonates affected were as follows: bowel resection (9.8%, P < .0001), sepsis (8.6%, P < .0001), presence of other congenital anomalies (7.6%, including 5.8% with intestinal atresias, P < .0001), necrotizing enterocolitis (4.5%, P < .0001), and small for gestational age (37.3%, P = .0006). Abdominal surgery in addition to gastroschisis repair occurred in 22.3%, with 6.4% receiving gastrostomy or jejunostomy tubes and 6.3% requiring ostomy creation. At discharge, 57.0% were less than the 10th percentile weight for age. The mode of delivery (52.4% cesarean delivery) was not associated with any differences in outcome. CONCLUSIONS: Although neonates with gastroschisis have excellent overall survival they remain at risk for death from sepsis, prolonged hospitalization, multiple abdominal operations, and malnutrition at discharge. Outcomes appear unaffected by the use of cesarean delivery. Further opportunities for quality improvement include sepsis prevention and enhanced nutritional support.

Accuracy of antenatal ultrasound signs in predicting the risk for bowel atresia in patients with gastroschisis.

OBJECTIVE: Evaluate accuracy of prenatal ultrasound findings in predicting the risk of bowel atresia in patients with gastroschisis. METHODS: A retrospective study was conducted on 18 fetuses with a prenatal diagnostic of gastroschisis treated at University hospital of Saint Etienne France between 2002 and 2012. Ultrasound abnormalities were used to classify them into three groups: no ultrasound abnormality (n=4), oligohydramnios (n=9), intra-abdominal bowel dilatation ≥20.5mm (n=5). Postnatal outcomes were compared between groups. The threshold value of 20.5mm for the prediction of atresia was determined through the receiver operator characteristics curve. RESULTS: In the group with oligohydramnios, intra uterine growth restriction were significantly more frequent (p=0.015) and three newborns had serositis including two with secondary complications after the initial surgery. In the group with major intra-abdominal bowel dilatation, all had a narrow defect <10mm significantly more than other fetuses (p=0.002). Intra-abdominal bowel dilatation reaching 20.5mm started at a mean gestational age significantly lower than that of the other fetuses (23.3 versus 29.7 weeks p=0.02). On the five fetuses presented intra-abdominal bowel dilatation ≥20.5mm, four showed atresia and no other newborn has this complication (p=0.0016). The threshold value of 20.5mm has a sensitivity of 100% and a specificity of 92.9%. The area under the curve was equal to 96.4%. CONCLUSION: Intra-abdominal bowel dilatation ≥20.5mm seems to be associated with the risk of postnatal atresia. MRI could help to clarify a complicated or uncertain ultrasound aspect.

Maternal occupational exposure to ionizing radiation and major structural birth defects.

BACKGROUND: Ionizing radiation (IR) is known to be carcinogenic and mutagenic, but little is known about the association between maternal occupational exposure to IR and birth defects. METHODS: We studied 38,009 mothers who participated in the National Birth Defects Prevention Study and delivered between 1997 and 2009. We assessed odds ratios [ORs] for the association between maternal occupations with potential exposure to IR and 39 birth defects. RESULTS: We observed significant odds ratios (ORs) for isolated hydrocephaly (adjusted OR [AOR], 2.1; 95% confidence interval [CI], 1.1-4.2), isolated anotia/microtia (AOR, 2.0; 95% CI, 1.0-4.0), isolated colonic atresia (crude OR, 7.5; 95% CI, 2.5-22.3), isolated omphalocele (AOR, 2.3; 95% CI, 1.1-4.6) and isolated anencephaly (crude OR, 0.23; 95% CI, 0.06-0.94). We also observed a nonsignificant OR for birth defects in aggregate (AOR, 2.0; 95% CI, 0.9-4.6) among mothers with potential occupational exposure to fluoroscopy. CONCLUSION: We assessed 39 birth defects, observing that maternal occupations with potential exposure to IR were associated with a significantly increased risk for 4 birth defects and a significantly protected risk for 1 birth defect. These results should be interpreted cautiously because our measurement of exposure is qualitative, some of these associations may be due to occupational exposures that are correlated with IR and some may be due to chance. However, these findings serve as the first evaluation of these relationships in a large study and may be useful for generating hypotheses for future studies.

Risk of selected structural abnormalities in infants after increased nuchal translucency measurement.

OBJECTIVE: We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural birth defects in euploid infants. STUDY DESIGN: Included were 75,899 singleton infants without aneuploidy or critical congenital heart defects born in California in 2009 through 2010 with NT measured between 11-14 weeks of gestation. Logistic binomial regression was employed to estimate relative risks (RRs) and 95% confidence intervals (CIs) for occurrence of birth defects in infants with an increased NT measurement (by percentile at crown-rump length [CRL] and by ≥3.5 mm compared to those with measurements <90th percentile for CRL). RESULTS: When considered by CRL adjusted percentile and by measurement ≥3.5 mm, infants with a NT ≥95th percentile were at risk of having ≥1 major structural birth defects (any defect, RR, 1.6; 95% CI, 1.3-1.9; multiple defects, RR, 2.1; 95% CI, 1.3-3.4). Infants with a NT measurement ≥95th percentile were at particularly high risk for pulmonary, gastrointestinal, genitourinary, and musculoskeletal anomalies (RR, 1.6-2.7; 95% CI, 1.1-5.4). CONCLUSION: Our findings demonstrate that risks of major pulmonary, gastrointestinal, genitourinary, and musculoskeletal structural birth defects exist for NT measurements ≥95th percentile. The ≥3-fold risks were observed for congenital hydrocephalus; agenesis, hypoplasia, and dysplasia of the lung; atresia and stenosis of the small intestine; osteodystrophies; and diaphragm anomalies.

Effect of delivery approach on outcomes in fetuses with gastroschisis.

BACKGROUND/PURPOSE: There is considerable controversy regarding optimal mode and timing of delivery for fetuses with gastroschisis. Our objectives were to describe the variation in institutional approach regarding these factors, and to evaluate the effect of timing of delivery on outcomes in fetuses with gastroschesis. METHODS: Members of the maternal-fetal medicine community across Canada were surveyed regarding their personal and institutional approach of delivery. Data from the Canadian Pediatric Surgery Network (CAPSnet) were analyzed. RESULTS: The survey showed significant variability in delivery approach between institutions, although no center routinely performs cesarean section. Infants delivered vaginally (VD) were categorized into three groups: Group 1, VD <36 weeks (n=114); Group 2, VD 36-37 weeks (n=218); and Group 3, VD ≥38 weeks (n=75). Score of Neonatal Acute Physiology, complication rates, length of time on total parenteral nutrition (TPN), and length of hospital stay (LOS) were higher in Group 1; bowel matting was greater in Group 3. There were no differences between the groups regarding other complications. CONCLUSIONS: Our data suggest that preterm delivery was associated with more complications, longer time on TPN, and longer LOS; delivery ≥38 weeks was associated with increased bowel matting. These outcomes should be considered when determining institutional protocol.

Contemporary 2-year outcomes of complex gastroschisis.

PURPOSE: Outcomes of gastroschisis are influenced by associated intestinal complications. We present a detailed analysis of complex gastroschisis. METHODS: A retrospective study of all patients with gastroschisis treated at 2 university neonatal intensive care units between January 1, 2001, and March 31, 2007, was performed. RESULTS: Of 83 patients, 19 (23%) had complex gastroschisis, including atresias (68%), gangrene (37%), closing gastroschisis (32%), perforation (21%), strictures (21%), and volvulus (11%). Prenatal ultrasound did not predict complications. Fifty-three percent underwent primary closure. Duration of mechanical ventilation and total parenteral nutrition (TPN) was 14.4 ± 1.9 days and 90.7 ± 9.0 days, respectively. Enteral feeds started at 35.9 ± 4.6 days. Hospital stay was 104.4 ± 9.6 days. Patients underwent a median of 3 abdominal procedures (range, 2-5) before discharge. Ninety-five percent survived to discharge; 33% and 67% were discharged on TPN and gastrostomy feeds, respectively. Two-year survival was 89%, with 82% on full oral feeding, 12% on a combination of oral and gastrostomy feeding, and 1 patient (who received a liver/bowel transplant) on a combination of enteral and parenteral nutrition. CONCLUSIONS: Complex gastroschisis continues to produce significant morbidity. However, most of the patients are TPN free by 2 years of age.

The gastroschisis prognostic score: reliable outcome prediction in gastroschisis.

BACKGROUND/PURPOSE: Disease-specific outcome predictors are required for gastroschisis. We derived and validated a gastroschisis prognostic score (GPS) based on bowel appearance after birth. METHODS: Visual scoring of bowel matting, necrosis, atresia, and perforation generated a novel gastroschisis bowel injury score recorded in a national database. Reweighting of score components by regression analysis led to assessments of model calibration and goodness of fit. The GPS was validated in subsequent cases. RESULTS: Records from 225 infants were used for model derivation. Only intestinal necrosis independently predicted mortality by regression analysis (odds ratio, 11.5; 95% confidence interval, 4.2-31.4). Model recalibration identified that a GPS of 4 or more predicted mortality in 75% of nonsurvivors and 99% of survivors (P = .0001). A GPS of 2 or more demonstrated significantly worse survival outcomes compared with scores of 0 or 1 (length of stay: P = .011, days to first enteral feed: P = .013, days on total parenteral nutrition: P = .006). Model validation with 184 new patients yielded continued high-quality discrimination of outcomes. The GPS demonstrated "near-perfect" interobserver reliability between 2 surgeons (κ ≥ 0.86). CONCLUSIONS: The GPS allows the accurate and reliable identification of high-risk groups for mortality and morbidity based on bowel appearance at birth. This information can drive discussions regarding family counseling, resource allocation, and new therapies for these patients.

Rectal atresia and stenosis: unique anorectal malformations.

INTRODUCTION: Rectal atresia/stenosis is a rare disorder in the spectrum of anorectal malformations and is particularly associated with a presacral mass. These patients are born with a normal anal canal but have a stricture or complete atresia located a few centimeters proximal to the dentate line. We present a surgical technique for the management of these patients, as well as their unique clinical concerns and outcomes. METHODS: We reviewed the records of 14 patients with rectal atresia and 3 with rectal stenosis. We describe a novel technique that we have developed for the preservation of the anterior dentate line that was performed in the last 13 patients. RESULTS: Rectal atresia/stenosis was associated with a presacral mass in 5 patients (29%). Definitive repair was completed using a circular rectorectal anastomosis in the first 4 patients and an anterior dentate line sparing procedure in the last 13. All patients older than 3 years have demonstrated the ability to have voluntary bowel movements. CONCLUSION: With the largest reported series of rectal atresia/stenosis, we have demonstrated a safe and effective technique for repair. Preoperative evaluation must be thorough because a significant number of these patients will have an associated presacral mass.