Paternal age and risk for selected birth defects in a large South American sample.

BACKGROUND: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA. OBJECTIVES: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA. METHODS: The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables. RESULTS: Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed. CONCLUSIONS: Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.

Risk factors of vesicoureteral reflux and urinary tract infections in children with imperforate anus: A population-based case-control study in Taiwan.

ABSTRACT: Imperforate anus (IA) is associated with several urological anomalies, including vesicoureteral reflux (VUR), a major contributor to high morbidity in patients with anorectal malformations. This retrospective study was performed to elucidate the risk factors of vesicoureteral reflux (VUR) and UTI in children with IA.We used the National Health Insurance Research Database (NHIRD) to estimate the frequency of congenital anomalies of the kidney and urinary tract (CAKUT) in children with IA. We also investigated the frequencies of VUR, UTI, and CAKUT in children with IA along with the risk factors of VUR.We enrolled 613 children between 2000 and 2008 (367 males and 246 females; 489 low-position IA and 124 high-position IA). High-position IA was associated with a significantly increased risk of VUR compared with low-position IA (OR: 2.68, 95% CI: 1.61, 4.45). In addition, children with IA along with CAKUT, hydronephrosis, or UTI had a higher risk of VUR (OR: 8.57, 95% CI: 3.75, 19.6; OR: 7.65, 95% CI: 4.48, 13.1; and OR: 31.8, 95% CI: 11.5, 88.3, respectively). UTI, as well as chromosomal anomalies, were more frequent in children with high-position IA.Patients with a high-position IA had a greater risk of VUR, particularly those with CAKUT, hydronephrosis, or UTI. Such patients must periodically undergo urinalysis to screen for UTI and early voiding cystourethrogram to rule out VUR and prevent consequent renal damage. Chromosomal analysis is suggested to rule out Down syndrome.

Long-term Follow-up, Patient Satisfaction, and Quality of Life for Patients With Kock's Continent Ileostomy.

BACKGROUND: Continent ileostomy is a solution for patients after proctocolectomy. OBJECTIVE: The aim of this study was to assess the long-term complications and failure rate alongside patient satisfaction, function, and quality of life for patients with a continent ileostomy. DESIGN: This was a retrospective, descriptive cross-sectional study. SETTINGS: All patients were operated in 1 center between 1980 and 2016. PATIENTS: A total of 85 patients received a de novo continent ileostomy in our institution. Sixty-nine patients (80%) had ulcerative colitis, 12 (14%) had Crohn's disease, 2 had indeterminate colitis, and 1 each had familial adenomatous polyposis and anal atresia. MAIN OUTCOME MEASURES: Medical charts were reviewed for reoperations and pouchitis. The 36-Item Short Form, Short Health Scale, and a local continent ileostomy questionnaire were used to assess quality of life, function, and satisfaction. RESULTS: After a median follow-up of 24 years, 67 patients (79%) underwent a total of 237 reoperations, of which 15 were conversions to end ileostomies, that is, failures. Fifty patients (59%) underwent repeat laparotomies, excluding loop ileostomy closures. Nipple detachment was the most common cause for repeat laparotomy, and fistulation was the most common cause for pouch removal. IPAA before continent ileostomy was associated with an increased risk for failure. Crohn's disease was not associated with an increased risk for reoperation or failure. Forty-three patients (84%) reported that they were satisfied. Seventy patients were available for questionnaires, and 50 patients (71%) answered. There was no difference in the 36-Item Short Form between the continent ileostomy population and an age-matched control population. LIMITATIONS: The retrospective, single-center design of the study alongside <100% response rate are to be considered limitations. CONCLUSIONS: Despite large numbers of complications, patients are generally satisfied with their continent ileostomies, and their quality of life is comparable to the general population. See Video Abstract at http://links.lww.com/DCR/B444. SEGUIMIENTO A LARGO PLAZO, SATISFACCIN DEL PACIENTE Y CALIDAD DE VIDA PARA PACIENTES CON ILEOSTOMA CONTINENTE DE KOCK: ANTECEDENTES:La ileostomía continente es una solución para los pacientes después de una proctocolectomía.OBJETIVO:El objetivo de este estudio fue evaluar las complicaciones a largo plazo y la tasa de fracaso junto con la satisfacción del paciente, la función y la calidad de vida de los pacientes con una ileostomía continente.AJUSTES:Todos los pacientes fueron operados en un centro entre 1980 y 2016.DISEÑO:Estudio retrospectivo, descriptivo y transversal.PACIENTES:Un total de 85 pacientes recibieron una ileostomía continente de novo en nuestra institución. Sesenta y nueve (80%) pacientes tenían colitis ulcerosa, doce (14%) enfermedad de Crohn, dos, colitis indeterminada y uno de poliposis adenomatosa familiar y atresia anal respectivamente.PRINCIPALES MEDIDAS DE RESULTADO:Se revisaron los registros médicos en busca de reintervenciones y pouchitis. Se utilizó SF-36, escala de salud corta y un cuestionario de ileostomía continente local para evaluar la calidad de vida, la función y la satisfacción.RESULTADOS:Después de una mediana de seguimiento de 24 años, 67 (79%) pacientes fueron sometidos a un total de 237 reoperaciones, de las cuales 15 fueron conversiones para terminar con ileostomías, es decir, fracasos. 50 (59%) pacientes se sometieron a laparotomías repetidas, excluyendo los cierres de ileostomía en asa. El desprendimiento del pezón fue la causa más común de repetición de laparotomía y la fistulación fue la causa más común de retiro de la bolsa. La anastomosis anal de la bolsa ileal antes de la ileostomía continente se asoció con un mayor riesgo de fracaso. La enfermedad de Crohn no se asoció con un mayor riesgo de reoperación o fracaso. 43 pacientes (84%) informaron que estaban satisfechos. 70 pacientes estuvieron disponibles para cuestionarios y 50 pacientes (71%) respondieron. No hubo diferencia en SF-36 entre la población de ileostomía continente y una población de control de la misma edad.LIMITACIONES:El diseño retrospectivo y unicéntrico del estudio junto con una tasa de respuesta inferior al 100% deben considerarse limitaciones.CONCLUSIÓN:A pesar del gran número de complicaciones, los pacientes generalmente están satisfechos con sus ileostomías continentes y su calidad de vida es comparable a la de la población general. Consulte Video Resumen en http://links.lww.com/DCR/B444.

OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program.

OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of OEIS is unknown. Virtually all cases are sporadic, and specific associated risk factors uncertain. OBJECTIVES: This study aimed to determine the prevalence, clinical spectrum, possible early pregnancy exposures, and demographic characteristics as potentially associated risk factors in a sample of Mexican cases. METHODS: We conducted a multihospital based case-control study on 12 cases with the OEIS complex identified in 1,195,020 LB born from January 1978 to December 2015. All comparisons performed were matching 1:3 the relation of cases and controls, respectively, considering the p-value of ≤.05 as statistically significant. RESULTS: The prevalence of OEIS was 1.004/100,000 (1/99,585) LB. The frequency of bladder/cloacal exstrophy was 75 and 25%, respectively, omphalocele was 83.3%, and imperforate anus and spinal defects, 75.0% each. Two pairs of twins discordant for the defect exhibited the severest OEIS phenotype. Except for the higher frequency of maternal first pregnancy trimester influenza infection, early perinatal mortality and a twining trend association, none other variable differed significantly. DISCUSSION: The prevalence of OEIS in our sample is within the highest reported worldwide. First-trimester pregnancy maternal influenza infection and twining emerge as associated risk factors for OEIS. Although twin zygosity was not defined, the observed severest phenotypes in twins endorse the hypothesis that OEIS and monozygotic twinning are features of disturbances on early blastogenesis.

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.

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Cloacal exstrophy (CE) and persistent cloaca (PC) (alternatively termed urorectal septum malformation sequence [URSMS]), represent two major cloacal defects (CDs). Clinical characteristics and risk factors often are studied for both defects combined, rather than exploring if these defects have different etiologies. We enumerated clinical features for 47 CE and 54 PC (inclusive of URSMS) cases from the National Birth Defects Prevention Study. Thirty-three CE cases were classified as isolated and 14 as multiple (presence of unassociated major defects); respective totals for PC cases were 26 and 28. We compared selected child and maternal characteristics between 11,829 non-malformed controls and CE and PC cases using chi-square or Fisher's exact tests. Compared to controls, CE and PC cases were statistically more likely (p < 0.05) to be preterm; CE cases were more likely to be multiple births. We conducted logistic regression analysis to estimate odds ratios and 95% confidence intervals for any CD, CE, and PC with selected self-reported maternal prepregnancy and periconceptional (one month prior to 3 months following conception) exposures. In crude and adjusted analyses, we observed significant positive associations for any CD, CE, and PC with use of any fertility medication or assisted reproductive technology procedure. Significant positive associations observed only in crude analyses were any CD with maternal obesity or use of progesterone, any CD and CE with any x-ray, and any CD and PC with use of folate antagonist medications. Our findings provide some of the first insights into potential differing etiologies for CE and PC.

Associated anomalies and clinical outcome in children with ectopic kidney.

Urological anomalies can be seen in children with renal ectopia (RE) and can result in renal impairment. Therefore, we evaluated associated anomalies and renal outcome in our patients with RE. Sixty-eight children who were diagnosed with RE between January 2009-May 2014 were retrospectively studied. A total of 68 patients, 36 (52.9%) boys, with a median age of 67 months (4-201) and a median follow-up period of 14 months (3-113) were included in the study. Simple RE (S-RE) was found in 51 (75%) patients, of which 46 were unilateral and five were bilateral (discoid kidney). Crossed RE (C-RE) was detected in 17 (25%) patients. Voiding cystourethrogram was performed in 21/51 (41.2%) patients in S-RE group and 5/17 (29.4%) in C-RE group. We did not find vesicoureteral reflux (VUR) in any of the patients with C-RE, whereas, in S-RE group, VUR was demonstrated in six (6/21 - 28.6%) patients. Pelviureteric junction obstruction in ectopic kidney was found in two patients with S-RE and one with C-RE. Two patients (2/17 - 11.7%) had neurogenic bladder due to meningomyelocele, accompanied by imperforate anus in C-RE group. There were no significant differences in other associated urological anomalies between two groups. Renal impairment developed mostly in patients with additional urinary anomaly. The children with RE may have associated urinary anomalies, of which VUR is the most common. Complete urological investigation and regular follow-up are required in selected cases.

High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning.

PURPOSE: Previous studies have hypothesized that cloacal exstrophy may be caused by errors early in embryological development related to monozygotic twinning. This study reports the prevalence of twins in a large cohort of patients with cloacal exstrophy. METHODS: Patients with cloacal exstrophy treated 1974-2015 were reviewed for reports of multiple gestation or conjoined twinning. The genetic sex of the patient and their twin, and any mention of anomaly in the twin were recorded. Neither placental exam nor genetic testing results were available to definitively determine zygosity. RESULTS: Of 71 patients, 10 had a live born twin (14%), all of whom were of the same genetic sex as the affected patient. One additional patient's twin suffered intrauterine fetal demise, and another patient had a conjoined heteropagus twin. None of the twins were affected by exstrophy-epispadias complex. The rate of twin birth in this cohort was 4.4-7.7 higher than that reported by the Centers for Disease Control in the general population time period (P<0.001), with a striking preponderance of same-sex pairs. CONCLUSIONS: The highly significant prevalence of same-sex twin pairs within this cohort supports the hypothesis that the embryogenesis of cloacal exstrophy may be related to errors in monozygotic twinning. LEVEL OF EVIDENCE: 2b.

Risk of congenital anomalies after exposure to asthma medication in the first trimester of pregnancy - a cohort linkage study.

OBJECTIVE: To examine the effect of maternal exposure to asthma medications on the risk of congenital anomalies. DESIGN: Meta-analysis of aggregated data from three cohort studies. SETTING: Linkage between healthcare databases and EUROCAT congenital anomaly registries. POPULATION: 519 242 pregnancies in Norway (2004-2010), Wales (2000-2010) and Funen, Denmark (2000-2010). METHODS: Exposure defined as having at least one prescription for asthma medications issued (Wales) or dispensed (Norway, Denmark) from 91 days before to 91 days after the pregnancy start date. Odds ratios (ORs) were estimated separately for each register and combined in meta-analyses. MAIN OUTCOME MEASURES: ORs for all congenital anomalies and specific congenital anomalies. RESULTS: Overall exposure prevalence was 3.76%. For exposure to asthma medication in general, the adjusted OR (adjOR) for a major congenital anomaly was 1.21 (99% CI 1.09-1.34) after adjustment for maternal age and socioeconomic position. The OR of anal atresia was significantly increased in pregnancies exposed to inhaled corticosteroids (3.40; 99% CI 1.15-10.04). For severe congenital heart defects, an increased OR (1.97; 1.12-3.49) was associated with exposure to combination treatment with inhaled corticosteroids and long-acting beta-2-agonists. Associations with renal dysplasia were driven by exposure to short-acting beta-2-agonists (2.37; 1.20-4.67). CONCLUSION: The increased risk of congenital anomalies for women taking asthma medication is small with little confounding by maternal age or socioeconomic status. The study confirmed the association of inhaled corticosteroids with anal atresia found in earlier research and found potential new associations with combination treatment. The potential new associations should be interpreted with caution due to the large number of comparisons undertaken. TWEETABLE ABSTRACT: This cohort study found a small increased risk of congenital anomalies for women taking asthma medication.

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.

The acronym VATER/VACTERL association (OMIM #192350) refers to the rare non-random co-occurrence of the following component features (CFs): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). According to epidemiological studies, the majority of patients with VATER/VACTERL association present with a "Renal" phenotype comprising a large spectrum of congenital renal anomalies. This finding is supported by evidence linking all of the human disease genes for the VATER/VACTERL association identified to date, namely, FGF8, FOXF1, HOXD13, LPP, TRAP1, and ZIC3, with renal malformations. Here we review these genotype-phenotype correlations and suggest that the elucidation of the genetic causes of the VATER/VACTERL association will ultimately provide insights into the genetic causes of the complete spectrum of congenital renal anomalies per se.

Residential agricultural pesticide exposures and risks of selected birth defects among offspring in the San Joaquin Valley of California.

BACKGROUND: We examined associations of birth defects with residential proximity to commercial agricultural pesticide applications in California. Subjects included 367 cases representing five types of birth defects and 785 nonmalformed controls born 1997 to 2006. METHODS: Associations with any versus no exposure to physicochemical groups of pesticides and specific chemicals were assessed using logistic regression adjusted for covariates. Overall, 46% of cases and 38% of controls were classified as exposed to pesticides within a 500 m radius of mother's address during a 3-month periconceptional window. RESULTS: We estimated odds ratios (ORs) for 85 groups and 95 chemicals with five or more exposed cases and control mothers. Ninety-five percent confidence intervals (CI) excluded 1.0 for 11 ORs for groups and 22 ORs for chemicals, ranging from 1.9 to 3.1 for groups and 1.8 to 4.9 for chemicals except for two that were <1 (noted below). CONCLUSION: For groups, these ORs were for anotia/microtia (n = 95 cases) and dichlorophenoxy acids/esters and neonicotinoids; anorectal atresia/stenosis (n = 77) and alcohol/ethers and organophosphates (these ORs were < 1.0); transverse limb deficiencies (n = 59) and dichlorophenoxy acids/esters, petroleum derivatives, and triazines; and craniosynostosis (n = 79) and alcohol/ethers, avermectins, neonicotinoids, and organophosphates. For chemicals, ORs were: anotia/microtia and five pesticides from the groups dichlorophenoxy acids/esters, copper-containing compounds, neonicotinoids, organophosphates, and triazines; transverse limb deficiency and six pesticides - oxyfluorfen and pesticides from the groups copper-containing compounds, 2,6-dinitroanilines, neonicotinoids, petroleum derivatives and polyalkyloxy compounds; craniosynostosis and 10 pesticides - oxyfluorfen and pesticides from the groups alcohol/ethers, avermectins, n-methyl-carbamates, neonicotinoids, ogranophosphates (two chemicals), polyalkyloxy compounds (two chemicals), and pyrethroids; and congenital diaphragmatic hernia (n = 62) and a copper-containing compound.

Parental risk factors of anorectal malformations: Analysis with a regional population-based control group.

BACKGROUND: Adequate evidence on environmental risk factors for anorectal malformations (ARMs) is very limited. We assessed maternal body weight and several prenatal exposures of the parents to tobacco, pregestational diabetes, chronic cardiovascular and respiratory diseases, periconceptional folic acid and multivitamin intake. METHODS: Data from the German Network for Congenital Uro-REctal malformations (CURE-Net) were compared with data from the Malformation Monitoring Centre Saxony-Anhalt of the Otto-von-Guericke University in Magdeburg, Germany. Controls were matched to cases by gender and birth year of the child. Crude and adjusted odds ratios (95% confidence intervals) were calculated for potential risk factors using multivariable logistic regression. RESULTS: In total, 158 ARM patients and 474 healthy infants born between 1993 and 2008 in Germany were included. Maternal age at birth of ARM cases and birth plurality were significantly higher and gestational age and weight significantly lower compared with controls (p < 0.0001). We observed significantly increased risks for ARMs associated with maternal smoking before conception and the first trimester of pregnancy (odds ratio = 2.23, 95% confidence interval 1.04-4.79, p = 0.039) and maternal chronic respiratory diseases (odds ratio = 29.25, 95% confidence interval 8.22-104.14, p < 0.0001). No statistically significant increased risk or protective effect was found for the other investigated factors. CONCLUSION: This study suggests an association between the occurrence of ARMs in the offspring and periconceptional maternal smoking as well as maternal chronic respiratory diseases. In addition, there might be a sign of an association for maternal diabetes, although not statistically significant. It can be assumed that the power is far too low to provide reliable estimates.

Comparison in the incidence of anorectal malformations between a first- and third-world referral center.

PURPOSE: Aim of study was to evaluate the differences in incidence and presentation of anorectal malformations (ARMs) between selected Pediatric Surgery Divisions in the Republic of South Africa (ZAR) and Italy. METHODS: A retrospective cohort study involved analysis of clinical records of patients with ARM born between 2005 and 2012. Type of ARM, maternal age, birth weight, gestational age, presence of associated anomalies and delayed diagnosis were analyzed. RESULTS: 335 patients were included in this study. Of note, statistically significant differences between the African and European patient groups were observed in a male predominance in the ZAR patient population. In addition, female recto-perineal fistulas were diagnosed in significantly more Italian patients than in ZAR. Furthermore, a more advanced maternal age and a lower gestational age was noted in the European cohort with a minimal delay in initial diagnosis as opposed to the African counterpart. Both centers reported recto-perineal fistula as the most common malformation in male patients. CONCLUSION: With the exception of perineal fistulas in females, the incidence of specific subtypes of ARMs was similar in the two groups. This may be of importance when extrapolating European study conclusion to the South African setting.

Association of anorectal malformation and intestinal malrotation.

BACKGROUND: Patients born with anorectal malformations (ARM) frequently have other congenital anomalies that are well-defined; however, limited data exist examining the relationship of ARM with malrotation. METHODS: A 10-year retrospective review was performed to examine all patients treated at a regional children's medical center with a diagnosis of ARM. Data were collected to identify malrotation, vertebral, anorectal, cardiac, tracheo-esophageal fistula, renal, radial, limb (VACTERL) anomalies, the type of ARM, operative procedures performed, and long-term bowel management. RESULTS: One hundred forty-six patients were identified. Upper gastrointestinal evaluation was performed in 21 patients (14.4%), while contrast enemas were performed in 22 patients (15.1%). Seven patients were found to have malrotation (4.8%) and 6/7 of these patients had 2 or more VACTERL anomalies. CONCLUSIONS: Patients with ARM and 2 or more VACTERL anomalies should undergo screening for malrotation. Patients with intestinal malrotation, ARM, and poor potential for bowel control should have their appendix preserved during a Ladd's procedure.

Passing the baton: The pediatric surgical perspective on transition.

BACKGROUND/PURPOSE: Transition of care from pediatric to adult providers is garnering intense national interest in pediatrics but is largely driven by nonsurgeons. We sought to describe the preferences of pediatric surgeons and their current transition practice patterns for various populations and wondered whether gender, experience, or practice setting affected surgeons' perspectives. METHODS: All American Pediatric Surgical Association (APSA) members were surveyed electronically. Responses were voluntary and confidential. RESULTS: Survey response rate was 22%. Most surgeons (95%) treated patients up to 22 years of age, and many cared for older patients (23-26 years, 49%; 27-30 years, 25%; 31-40 years, 18%; >40 years, 13%). Developmentally delayed adults comprised a significant portion of this population (54%). Congenital conditions such as Hirschsprung disease (25%), anorectal malformations (22%) and cystic fibrosis (22%) were most commonly reported. About half (52%) of respondents reported institutional limits for age. Lack of qualified adult surgeons was felt to be the greatest barrier to transition (p<0.001). Experience, gender and practice type did not significantly affect opinions of transition. CONCLUSIONS: Pediatric surgeons care for adult patients with a variety of surgical conditions, particularly those with developmental delay and congenital anomalies. The perception of a deficit of qualified adult providers warrants further exploration. Understanding the barriers to surgical transition represents a critical step in improving the quality and appropriateness of care transitions.

Birth prevalence of anorectal malformation in the referral area for the University of the Witwatersrand tertiary hospitals, South Africa.

BACKGROUND: Anorectal malformations (ARMs) are a major congenital anomaly in neonates. There is significant geographical variation in the birth prevalence varying from 1:1,500 to 1:5,000 live births. There is no published literature on the birth prevalence of ARM occurring within the referral area for The University of Witwatersrand tertiary hospitals in South Africa. METHODS: Retrospective data were collected from the Pediatric Surgical Department, University of the Witwatersrand. Patient records for a 6-year period from January 2005 to December 2010 were obtained from Chris Hani Baragwanath Academic Hospital and Charlotte Maxeke Johannesburg Academic Hospital. The number of live births per year for a specific municipal district was obtained from the National Department of Health. The χ(2) test for trend test was used to determine statistically significance. RESULTS: The birth prevalence for ARM in 2010 was shown to be 1:3,989 live births (2.5/10,000 live births) for the University of Witwatersrand tertiary hospital referral area. A statistically significant overall increase in the birth prevalence of ARM from January 2005 till December 2010 was demonstrated (p < 0.0001). The municipal districts of Johannesburg (p = 0.0015) and Ekurhuleni (p = 0.0066) revealed the greatest increase in birth prevalence. CONCLUSION: This study has provided current statistics on the birth prevalence of ARM in the University of Witwatersrand tertiary hospital referral area, as well as demonstrating a positive incremental trend in the occurrence of this condition over a 6-year period. Future studies will examine the birth prevalence in several other provinces of South Africa. Results from the collective data will then be used to form conclusions regarding any regional or national changes in the birth prevalence of ARM as well as to identify any epidemiological trends.

Fetal syringomyelia.

We explored the prevalence of syringomyelia in a series of 113 cases of fetal dysraphism and hindbrain crowding, of gestational age ranging from 17.5 to 34 weeks with the vast majority less than 26 weeks gestational age. We found syringomyelia in 13 cases of Chiari II malformations, 5 cases of Omphalocele/Exostrophy/Imperforate anus/Spinal abnormality (OEIS), 2 cases of Meckel Gruber syndrome and in a single pair of pyopagus conjoined twins. Secondary injury was not uncommon, with vernicomyelia in Chiari malformations, infarct like histology, or old hemorrhage in 8 cases of syringomyelia. Vernicomyelia did not occur in the absence of syrinx formation. The syringes extended from the sites of dysraphism, in ascending or descending patterns. The syringes were usually in a major proportion anatomically distinct from a dilated or denuded central canal and tended to be dorsal and paramedian or median. We suggest that fetal syringomyelia in Chiari II malformation and other dysraphic states is often established prior to midgestation, has contributions from the primary malformation as well as from secondary in utero injury and is anatomically and pathophysiologically distinct from post natal syringomyelia secondary to hindbrain crowding.

Impact of spinal dysraphism on urinary and faecal prognosis in 25 cases of cloacal malformation.

OBJECTIVE: Urinary and faecal continence are key challenges goal of cloacal malformation management. Most well-known prognostic factors are the length of common channel (CC) and the presence of a sacral defect, but the impact of associated spinal dysraphism is less well documented. The aim of this study was to investigate the impact of different types of dysraphism on urinary and faecal continence in this patient population. MATERIALS AND METHODS: From 1991 to 2011, charts and office notes of 25 patients with cloacal malformation were retrospectively reviewed. At last clinic visit, urinary and faecal continence status according to Krickenbeck criteria were correlated with the length of CC, the presence of a sacral defect (sacral ratio), and the presence of different types of spinal cord dysraphism using magnetic resonance imaging (MRI) and Fisher's exact test. RESULTS: Mean follow-up was 8 years (4 months-21 years). The sacral ratio was abnormal (below 0.74) in 18 cases out of 25 (72%). MRI review showed normal spinal cord in eight out of 23 cases (Group 1), spinal cord anomaly in 15 out of 23 cases (65%) including nine cases of tethered cord complex (Group 2) and six cases of a short spinal cord (Group 3). While statistical analysis showed a difference regarding urinary prognosis between the groups (p=0.005), no significant difference was found regarding faecal prognosis. None of the six patients with short spinal cord were continent for both urinary and faecal prognosis. CONCLUSIONS: This is the first study, which highlights the impact of different types of spinal dysraphism on functional outcome in patients with cloaca. Short spinal cord seemed to carry the worst prognosis. A prospective study with a larger series is mandatory to confirm these preliminary results.

Esophageal atresia in patients with anorectal malformations.

PURPOSE: The presence of esophageal atresia (EA) in patients with an anorectal malformation (ARM) is well known. The purpose of this work is to find out the most common type of ARM associated to EA and the functional prognostic implication of this association, which has not been described in previous publications. METHODS: We reviewed our database for demographic, functional, and associated anomalies data in our patients with EA and ARM, and then compared them with those of our general series of ARM without esophageal atresia. RESULTS: Out of 1,995 ARM patients, 167 had a concomitant EA (8.3 %). Prostatic fistula was the most common type of defect in the male EA patients (45.9 %) and cloacas were on the female group (57.9 %). EA patients had worse bowel (47 vs. 67 %) and urinary control (56.6 vs. 79.4 %) when compared to the general series (GS). Functional prognosis was significantly worse in cloacas and in patients subjected to re-operations (p < 0.001). EA patients had a 0.52 average sacral ratio and in the GS was 0.65 (p < 0.001). EA patients had a significantly higher incidence of tethered cord (32.3 vs. 17.6 %), cardiac anomalies (32.3 vs. 22.5 %) including VSD (12.5 vs. 4.5 %), hydronephrosis (36.5 vs. 15.4 %), absent kidney (26.3 vs. 10.5 %), duodenal atresia (7.7 vs. 1.7 %), vertebral anomalies (28.1 vs. 14 %), extremity defects (11.3 vs. 3.1 %), tracheal anomalies (6.5 vs. 0.4 %), and developmental delay (5.9 vs. 1.4 %). CONCLUSIONS: The presence of esophageal atresia in ARM patients has a significant, probably coincidental, impact on bowel and urinary control. This association is also related with worse types of ARM defects and with more severe associated anomalies. This association should increase the awareness on the provider in terms of what to expect on functional prognosis and a throughout search for associated anomalies.

Anorectal malformation without fistula: a defect with unique characteristics.

INTRODUCTION: Anorectal malformations (ARMs) without fistula occur in approximately 5 % of all cases of ARM. The high frequency of Trisomy 21 associated to this type of malformation has been previously described. A review of the literature revealed only one previous publication discussing ARM without fistula with or without Trisomy 21; all other publications focused their discussion in patients with Trisomy 21. We felt that ARM without fistula has very specific characteristics and therapeutic implications that deserved a special discussion, which prompted us to review our experience. METHODS: A retrospective review of the medical records of patients with ARM without fistula was performed between September 1980 and March 2014. From a series of 2,189 cases of ARMs, 92 had no fistula identified. Information related to demographic, anatomic, and prognostic factors, as well as outcome variables was obtained and compared to those results obtained from other types of ARMs. RESULTS: Seventy-six patients were males and 16 females. Thirty-seven patients (40 %) had Trisomy 21. Eighty-six patients were primarily operated on and six had a reoperation after a failed attempted repair at another institution. Of the six patients that were reoperated, five had an attempted repair in the newborn period without a colostomy and the operation was aborted after the rectum could not be found. The location of the blind rectum was at the level of the bulbar urethra in males or 1-2 cm from the perineal skin in females in 80 patients; and in 9 patients it was found at the level of the prostatic urethra. In five patients, during the repair, there was an incidental opening of the urethra, which was repaired with uneventful recovery. The sacrum was normal in 61 patients; 4 patients had a sacral ratio <0.4, which indicated poor prognosis for fecal continence. Sixty-four patients had normal urinary tract, four patients had an absent kidney, ten had bilateral hydronephrosis, and three unilateral. Long-term outcomes related to bowel control were available in 52 cases: 11 of 18 patients with Trisomy 21(61 %) had voluntary bowel movements and 29 of 34 (85 %) without Trisomy 21 had voluntary bowel movements. All patients without Trisomy 21 had urinary control. CONCLUSION: Anorectal malformation without fistula is a unique defect. In our series, it occurs in 4 % of all ARMs. Even when patients do not have a fistula, the operation is not technically easier due to the presence of an extensive common wall between the rectum and urethra in males or vagina in females. The ARM with no fistula has a good reasonable functional prognosis, even in patients with associated Trisomy 21 and conveys a low frequency of associated urologic defects.