Gastrointestinal System Anomalies Research Articles

461 The First Six Years Experience of Tunisian Congenital Anomalies Registry

Introduction: Congenital anomalies are a major cause of handicap in childhood. Whether they are frequent in Tunisia, epidemiological studies are rare. Establishing the surveillance of congenital anomalies in Monastir area since 2003 respond to a lack of epidemiological and etiological research in a preventive policie of these anomalies. Population and Methods: We underwent the study in Monastir area (Center of Tunisia) between 2003 and 2008. All congenital anomalies diagnosed during the first month of life were evaluated by a physician committee of the research unit 01/UR/08- 14 and registered Results: 633 congenital anomalies were identified in 529 newborn infants. Their global prevalence was 1.04 per 10,000 births. Parents were consanguineous in 26.6%, prenatal diagnosis was made in 21.1% of cases. 92% of newborn infants were alive, 1.9% were still born infants while 5.8% were issued of termination of pregnancy for fetal anomaly. Sexratio was 1.48. Congenital anomalies were as follow: Congenital heart malformations (30.2%), Limb and skeletal anomalies (18.6%), Urinary and genital anomalies (16.6%), Facial anomalies (12.3%), Chromosomal anomalies (7.7%), Digestive system anomalies (7%) and respiratory system anomalies (3%). Conclusions: Surveillance and epidemiological evaluation of congenital anomalies in our country underline the high frequency of these events. This will help to better target congenital anomalies prevention and screening policies in our population.

081 Predictors of survival in children born with Down syndrome

ObjectiveTo investigate the influences of survival in children born with Down Syndrome.DesignPopulation-based case-series derived from the Northern Congenital Abnormality Survey.SettingA geographically distinct area of Northeast England, incorporating North Cumbria, Northumberland,...

Urological problems or fecal continence during long-term follow-up of patients with anorectal malformation

Anorectal malformations comprise a wide spectrum of diseases. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. The aim of this study was to evaluate fecal continence together with additional urinary anomalies in patients with anorectal malformations (ARM) and determine which of them is more troublesome for life quality in long-term follow-up. A total of 93 cases followed up and treated at our clinic between 1983 and 2009 were evaluated for urinary pathologies, fecal continence, and their quality of life (QOL). Patients were classified according to the international system (Krickenbeck), and were evaluated on the basis of voluntary bowel movement, constipation, and fecal soiling. They were also classified as good, fair, and poor regarding fecal continence. The urinary system pathologies, the medical and surgical treatments received, and the pediatric nephrology follow-up results were all evaluated. The patients were grouped by age and their QOL scored using a telephone interview. The mean age (+/-SD) was 8.47 +/- 4.85 (3-25) years, and the mean follow-up period was 6.96 +/- 4.55 (1-23) years. Evaluation of the patients in relation to their fecal continence revealed that 35 (37.6%) had constipation, 22 (23.6%) had fecal soiling, and voluntary bowel movements were absent in 7 (7.5%). Fecal continence was evaluated using the Krickenbeck classification, and it was good in 74 (79.6%), fair in 12 (12.9%), and poor in 7 (7.5%). QOL evaluation of these cases showed markedly decreasing QOL as the cases changed from good to poor fecal continence. Urinary system pathology was detected in 35 (37.6%) of the cases with 22 (23.7%) having severe uropathology. We compared the 22 patients with severe uropathology and 71 cases without severe uropathology for QOL and found the ARM group with severe uropathology to have significantly lower physical QOL, psychosocial QOL, and total QOL values. Reviewing the patients by fecal continence and urinary pathologies together regarding QOL showed that patients with good fecal continence and no additional urinary abnormality had the best QOL. The QOL decreased considerably in both the group with a fecal incontinence problem but no additional urinary abnormality and the group with good fecal continence but serious additional urinary abnormality. The QOL was worst in patients with urinary pathology and fecal incontinence. Anorectal malformations constitute a wide spectrum of disease. Urinary anomalies and their complications significantly increase the morbidity in these children even after the correction of the ARM. In the evaluation of the published series, we noted that the main issue was fecal continence, and there was not enough data concerning the urinary system pathologies of the patients when they reach adult ages. Anorectal dysfunction has a negative effect on QOL in ARM patients, but is not life threatening. Such patients can lead normal life although the QOL is affected. However, vesicoureteral dysfunction can cause permanent damage in other organs. This damage may cause mortality depending on the level of the malformation. Evaluating the patients considering fecal continence and urinary system pathology together showed that nearly 10% of the ARM patients had serious problems affecting their long-term QOL related to fecal control, whereas nearly a fourth of the cases had additional anomalies of the urinary system that will affect the QOL despite all treatments used, as the development of pyelonephritis, hypertension, and end-stage renal disease should be expected in these patients. Urinary system anomalies in patients with ARM are at least as serious and complex as gastrointestinal system anomalies and create more problems than fecal incontinence during long-term follow-up.

20-year survival of children born with congenital anomalies: a population-based study

Congenital anomalies are a leading cause of perinatal and infant mortality. Advances in care have improved the prognosis for some congenital anomaly groups and subtypes, but there remains a paucity of knowledge about survival for many others, especially beyond the first year of life. We estimated survival up to 20 years of age for a range of congenital anomaly groups and subtypes. Information about children with at least one congenital anomaly, delivered between 1985 and 2003, was obtained from the UK Northern Congenital Abnormality Survey (NorCAS). Anomalies were categorised by group (the system affected), subtype (the individual disorder), and syndrome according to European Surveillance of Congenital Anomalies (EUROCAT) guidelines. Local hospital and national mortality records were used to identify the survival status of liveborn children. Survival up to 20 years of age was estimated by use of Kaplan-Meier methods. Cox proportional hazards regression was used to examine factors that affected survival. 13,758 cases of congenital anomaly were notified to NorCAS between 1985 and 2003. Survival status was available for 10 850 (99.0%) of 10 964 livebirths. 20-year survival was 85.5% (95% CI 84.8-86.3) in individuals born with at least one congenital anomaly, 89.5% (88.4-90.6) for cardiovascular system anomalies, 79.1% (76.7-81.3) for chromosomal anomalies, 93.2% (91.6-94.5) for urinary system anomalies, 83.2% (79.8-86.0) for digestive system anomalies, 97.6% (95.9-98.6) for orofacial clefts, and 66.2% (61.5-70.5) for nervous system anomalies. Survival varied between subtypes within the same congenital anomaly group. The proportion of terminations for fetal anomaly increased throughout the study period (from 12.4%, 9.8-15.5, in 1985 to 18.3%, 15.6-21.2, in 2003; p<0.0001) and, together with year of birth, was an independent predictor of survival (adjusted hazard ratio [HR] for proportion of terminations 0.95, 95% CI 0.91-0.99, p=0.023; adjusted HR for year of birth 0.94, 0.92-0.96, p<0.0001). Estimates of survival for congenital anomaly groups and subtypes will be valuable for families and health professionals when a congenital anomaly is detected, and will assist in planning for the future care needs of affected individuals. BDF Newlife.

Maternal Age-Specific Risk of Nonchromosomal Anomalies

With a continuing rise in the average maternal age in industrialized societies, accurate data are needed on maternal age-related obstetric risks. Although it is well known that the risk of fetal aneuploidy increases along with maternal age, it is unclear whether older mothers are at increased risk of having a fetus with nonchromosomal congenital anomalies (NCA). Much of the data on the risk data for NCA among older European mothers are either difficult to interpret or come from studies with small sample size, and little data are available on the overall risk of NCA in younger (teenage) mothers. This population-based prevalence study compared the age-specific risk of NCA among mothers in 15 European countries. Data from 1.75 million infants born between 2000 and 2004 were obtained from the EUROCAT database, a network of population-based congenital anomaly registers in 15 European countries. The primary outcome measures were the prevalence of NCA at increasing maternal ages and the relative risk (RR) of any NCA and 84 standard NCA subgroups. Included among the 38,958 cases of NCA were live births, fetal deaths ≥20 weeks’ gestation, and pregnancy terminations following prenatal diagnosis of malformation. The highest crude prevalence of all NCAs was among mothers <20 years old (26.5 per 1000 births). With increasing maternal age, the overall prevalence of NCA decreased: the crude prevalence per 1000 births for mothers 20 to 24, 25 to 29, 30 to 34, 35 to 39, and 40 to 44 years was 23.8, 22.5, 21.5, 21.4, and 22.6, respectively. Compared to mothers age 25 to 29, the RR of NCA adjusted for country was 1.11 (95% confidence interval [CI], 1.06–1.17) for mothers age <20 years, 0.99 (95% CI, 0.96–1.02) for mothers age 35 to 39, and 1.01 (95% CI, 0.95–1.07) for mothers age 40 to 44. There was significant variation in the pattern of maternal age-related risk between countries: the RR was higher for teenage mothers in France, Ireland, and Portugal, whereas the RR was higher for older mothers in Germany and Poland. The maternal age-specific RR was also different for specific NCAs among the 84 subgroups analyzed. Mothers <20 years old were at a significantly greater risk of nervous system abnormalities including anencephaly, tricuspid atresia, digestive system anomalies including gastroschisis, and maternal infection syndromes. Older mothers aged from 35 to 39 and 40 to 44 years were at a significantly greater risk of encephalocele, esophageal atresia, thanatophoric dwarfism, and fetal alcohol syndrome (all values P < 0.01). These findings indicate that, while teenage mothers are at increased risk of having offspring with NCAs, older maternal age is a negligible risk factor for NCAs overall, although the risk of a few specific anomalies appears to increase with age.

Maternal age‐specific risk of non‐chromosomal anomalies

Objectives To determine the excess risk of non‐chromosomal congenital anomaly (NCA) among teenage mothers and older mothers.Design and setting Population‐based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.75 million births from 2000 to 2004.Participants A total of 38 958 cases of NCA that were live births, fetal deaths with gestational age ≥20 weeks or terminations of pregnancy following prenatal diagnosis of a congenital anomaly.Main outcome measures Prevalence of NCA according to maternal age, and relative risk (RR) of NCA and 84 standard NCA subgroups compared with mothers aged 25–29.Results The crude prevalence of all NCA was 26.5 per 1000 births in teenage mothers (&lt;20 years), 23.8 for mothers 20–24 years, 22.5 for mothers 25–29 years, 21.5 for mothers 30–34 years, 21.4 for mothers 35–39 years and 22.6 for mothers 40–44 years. The RR adjusted for country for teenage mothers was 1.11 (95% CI 1.06–1.17); 0.99 (95% CI 0.96–1.02) for mothers 35–39; and 1.01 (95% CI 0.95–1.07) for mothers 40–44. The pattern of maternal age‐related risk varied significantly between countries: France, Ireland and Portugal had higher RR for teenage mothers, Germany and Poland had higher RR for older mothers. The maternal age‐specific RR varied for different NCAs. Teenage mothers were at a significantly greater risk (P &lt; 0.01) of gastroschisis, maternal infection syndromes, tricuspid atresia, anencephalus, nervous system and digestive system anomalies while older mothers were at a significantly greater risk (P &lt; 0.01) of fetal alcohol syndrome, encephalocele, oesophageal atresia and thanatophoric dwarfism.Conclusions Clinical and public health interventions are needed to reduce environmental risk factors for NCA, giving special attention to young mothers among whom some risk factors are more prevalent. Reassurance can be given to older mothers that their age in itself does not confer extra risk for NCA.

Prevalence and secular trend of congenital anomalies in Glasgow, UK

Aim: To describe the epidemiology of congenital anomalies in Glasgow with special reference to secular trends. Methods: The prevalence of congenital anomalies was determined retrospectively in 233 777 births using...

Patterns of infant mortality caused by major congenital anomalies.

We assessed the impact of recent advances in perinatal care on infant mortality due to congenital anomaly. Analysis of trends in congenital anomaly-attributed infant mortality, using the 1981-1995 Statistics Canada's birth and death records, with a total of 2,878,826 live births, 21,883 infant deaths, and 6, 908 infant deaths due to congenital anomalies. Infant mortality due to major congenital anomaly decreased from 3.11 per 1, 000 live births in 1981 to 1.89 per 1,000 live births in 1995. Cause-specific infant mortality rates for anencephaly, spina bifida, other central nervous system anomalies, cardiovascular system anomalies, respiratory system anomalies, digestive system anomalies, certain musculoskeleton anomalies, urinary system anomalies, chromosomal anomalies, and multiple congenital anomalies were 0.20, 0.23, 0.27, 1.04, 0.24, 0.08, 0.22, 0.16, 0.22, and 0.13 per 1,000 live births, respectively, in 1981-1983, whereas corresponding rates were 0.07, 0.07, 0.18, 0.73, 0.25, 0.03, 0.12, 0.12, 0.26, and 0.06 per 1,000 live births, respectively, in 1993-1995. Recent Canadian data show that infant deaths caused by major congenital anomalies have decreased significantly, but reductions varied substantially according to specific forms of anomalies.

Correlation of Prenatal Ultrasound Diagnosis and Morphological Findings of Fetal Autopsy

The findings of prenatal ultrasound diagnosis were compared with the autopsy findings in 183 fetuses (between the 14th and 24th week of gestation), aborted for fetal malformations in the period from 1995 to 1997. In these 183 cases, the primary diagnosis showed 50 central nervous system anomalies, 48 cardiovascular system anomalies, 42 genitourinary system anomalies, 18 respiratory system anomalies, 8 skeleton system anomalies, 6 gastrointestinal system anomalies and 11 other abnormalities. Of the total number of cases, 41% had multiple malformations. In 144 cases (78%), the prenatal diagnosis was confirmed by autopsy, in 36 cases (20%) the prenatal diagnosis was confirmed with additional significant pathology, and in only 3 cases (2%) the prenatally detected malformation was not confirmed by pathological examination. Autopsy remains an important component of the evaluation of fetal losses after induced abortion.

Polyhydramnios and Associated Maternal and Fetal Complications in Singleton Pregnancies

Summary. During the 10-year period 1 January 1979 to 31 December 1988, polyhydramnios occurred in 537 patients with singleton pregnancies delivered at the Mercy Maternity Hospital. Associated maternal and fetal complications and the perinatal outcome of thcsc prcgnancics with polyhydramnios were analysed. In 248 of the 537 pregnancies (46%) in this group there were no maternal complications or fetal malformations and the perinatal mortality (PNM) rate was 2.4%. The PNM rate increased significantly to 13.1 Yo when thcrc was iissociated pre-eclampsia, 10% with gestational diabetes, and to 7.6% with miscellaneous complications. When polyhydramnios was associated with a fetal or placental malformation the PNM rate was 61.4%. The commonest malformations were central nervous system (31 %), musculoskcletal (12%) and gastrointestinal system anomalies (1 0%). Placental chorioangioma occurred in two patienlh (0.4%) and both babies died. In women with low oestriol excretion (18% of the 455 tcsted) the PNM rate increased five times to 22.7%. Polyhydramnios occurs in 0.4%-1.2% of pregnancies (Mi~cafee 1950: Queenan & Gadow 1970) and it is associated with a high perinatal mortality ratc duc to fetal malformations and immaturity; it is also associated with diabetes and possibly with pre-eclampsia. This study analyses these and other associations of thc various typcs of polyhydramnios in 5 1 022 consecutive singleton pregnancies managed at the Mercy Maternity Hospital. Melbourne, during the 10-years. 3979-1988. Subjects and methods

Polyhydramnios and associated maternal and fetal complications in singleton pregnancies

During the 10-year period 1 January 1979 to 31 December 1988, polyhydramnios occurred in 537 patients with singleton pregnancies delivered at the Mercy Maternity Hospital. Associated maternal and fetal complications and the perinatal outcome of these pregnancies with polyhydramnios were analysed. In 248 of the 537 pregnancies (46%) in this group there were no maternal complications or fetal malformations and the perinatal mortality (PNM) rate was 2.4%. The PNM rate increased significantly to 13.1% when there was associated pre-eclampsia, 10% with gestational diabetes, and to 7.6% with miscellaneous complications. When polyhydramnios was associated with a fetal or placental malformation the PNM rate was 61.4%. The commonest malformations were central nervous system (31%), musculoskeletal (12%) and gastrointestinal system anomalies (10%). Placental chorioangioma occurred in two patients (0.4%) and both babies died. In women with low oestriol excretion (18% of the 455 tested) the PNM rate increased five times to 22.7%.

Case histories of neonates with congenital heart disease.

The rate of extracardiac malformation (ECM) associated with congenital heart disease (CHD) is high in neonates. 108 cases of 212 neonates with CHD had ECM (50.9%). Main ECMs were digestive system anomalies (36.1%), chromosomal aberrations (26.8%), respiratory system anomalies (21.3%), CNS anomalies (13.0%), and other (2.7%). Single lesion of left to right shunt accounted for 77.2% (61/79) of CHD with ECM from other than chromosomal aberrations. The prognosis of neonates with CHD without ECM was also studied. Total anomalous pulmonary venous connection, pure pulmonary atresia (PPA), pulmonary stenosis (PS), hypoplastic left heart syndrome are not generally associated with ECM, but the prognosis is poor. Coarctation complex which is sometimes associated with ECM has a poor prognosis in neonates. There is an increase of the survival rate in the patients with hypoxemia, such as PPA or severe PS, extreme tetralogy of Fallot, and tricuspid atresia, which can be managed with prostaglandin E1. PDA associated with respiratory distress syndrome is ideally treated with indomethacin. In recent years, mortality from PDA has decreased in neonates. The mortality rate during the neonatal period was 46.8% (51/109): 37.5% (30/80) died before surgical interventions and 72.4% (21/29) died during or after surgery. Half of neonatal deaths from CHD occurred within 3 days of admission. Thus, early detection, early diagnosis, and early treatment of neonates with CHD is most important.