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Oesophageal Atresia (oesophageal + atresia)

Distribution by Scientific Domains

Medical Sciences	60%

Selected Abstracts

An overview of isolated and syndromic oesophageal atresia

CLINICAL GENETICS, Issue 5 2007
D Geneviève
Oesophageal atresia (OA) and/or tracheo-oesophageal fistula (TOF) are frequent malformations observed in approximately one in 3500 births. OA/TOF can be divided clinically into isolated OA (IOA) and syndromic OA (SOA) when associated with other features, the most frequent being cardiac, limb and vertebral malformations or anal atresia. SOA is observed in 50% of patients and can be subdivided into several causative groups comprising environmental agents, chromosomal disorders, malformative associations (CHARGE syndrome and VATER/VACTERL association), and other multiple congenital anomaly disorders. The observation of chromosomal disorders with SOA, as well as mouse models of OA provide support for the involvement of genetic factors in OA. Yet, epidemiological data (twin and family studies) do not support the major role of genetic factors in the majority of cases of IOA but rather a multifactorial model. However, several genes involved in SOA have been recently identified, namely N-MYC, SOX2, and CHD7 involved in Feingold (MIM 164280), anophthalmia-oesophageal-genital (MIM 600992) and CHARGE syndromes respectively (MIM 214800), suggesting that OA/TOF, at least in their syndromic forms, may be a highly genetically heterogeneous group. [source]

Birth at hospitals with co-located paediatric units for infants with correctable birth defects

AUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2008
Charles S. ALGERT
Objectives: To determine the percentage of liveborn infants with selected antenatally identifiable and correctable birth defects who were delivered at hospitals with co-located paediatric surgical units (co-located hospitals). Additionally, to determine the survival rates for these infants. Patients and methods: Data were from linked New South Wales hospital discharge records from 2001 to 2004. Livebirths with one of the selected defects were included if they underwent an appropriate surgical repair, or died during the first year of life. Infants with multiple lethal birth defects were excluded. Deliveries at co-located hospitals were identified, but no data on antenatal diagnosis were available. Results: The study identified 287 eligible livebirths with the selected defects. The highest rates of delivery at co-located hospitals were for gastroschisis (88%), exomphalos (71%), spina bifida (63%) and diaphragmatic hernia (61%), and the lowest for transposition of the great arteries (43%) and oesophageal atresia (40%). Mothers resident outside of metropolitan areas, where the co-located hospitals are located, had a similar rate of delivery at co-located hospitals as metropolitan women. For the non-metropolitan mothers of infants with a birth defect, this represented a 30-fold increase over the baseline delivery rate of 1.8%. Post-surgery survival rates were 87% or higher. Overall survival rates were , 86% except for infants with a diaphragmatic hernia. Conclusions: Delivery rates at co-located hospitals were high for mothers of infants with these correctable birth defects. Regionalised health care appears to work well for these pregnancies, as women living outside metropolitan areas had a similar rate of delivery at co-located hospitals to that of urban women. [source]

Health-related quality of life and its determinants in children and adolescents born with oesophageal atresia

ACTA PAEDIATRICA, Issue 3 2010
MG Peetsold
Abstract Aim:, Following surgical correction in the neonatal period, patients born with oesophageal atresia have significant co-morbidity, particularly in childhood. This study evaluates health-related quality of life and its determinants such as concomitant anomalies and the presence of respiratory and/or gastro-intestinal symptoms 6,18 years after repair of oesophageal atresia. Methods:, Parents of 24 patients with oesophageal atresia completed the child health questionnaire for parents and 37 patients completed the child form. Gastro-intestinal symptoms were assessed by a validated standardized reflux questionnaire. Results were compared with a healthy reference population. Results:, Parents as well as patients themselves scored significantly lower on the domain general health perception. According to parents, general health perception was negatively affected by age at follow-up and concomitant anomalies. Patients reported that reflux symptoms reduced general health perception. Conclusion:, In this first study describing health-related quality of life in children and adolescents born with oesophageal atresia, we demonstrated that general health remains impaired because of a high incidence of concomitant anomalies and gastrointestinal symptoms in patients with oesophageal atresia when compared with the healthy reference population. [source]