Background. European Surveillance of Congenital Anomalies (EUROCAT) is a network of populationbased congenital anomaly registries in Europe surveying more than 1.5 million births per year, or 29% of ...the births in the European Union. It has been collecting, analysing, and interpreting birth defects surveillance data since 1979. EUROCAT actively monitors major birth defects among infants born to mothers residents in defined European regions. Cases are ascertained from multiple sources, coded using a British Paediatric Association one digit extension, and reviewed and classified by clinical geneticists that take part in the multidisciplinary staff of the network. Epidemiological data on 95 types of congenital anomaly reported among live births, stillbirths, and terminations of pregnancy after prenatal diagnosis are recorded. EUROCAT is monitoring trends and clusters in birth defects and serves for descriptive, risk factor, and prognostic studies of congenital anomalies, including evaluation of neural tube defects prevention strategies related to the periconceptional use of folic acid supplements, and assessment of the impact of the developments of prenatal diagnosis. Conclusions. Congenital anomalies continue to be an important cause of morbidity and mortality in infants and children. The studies on the epidemiological characteristics of congenital defects are limited, because they require the analysis of large populations and a well-organised diagnostic network. Introduction of registries of for the surveillance birth defects enables the assessment of the impact of primary prevention and developments in prenatal screening. The registry can serve as an early warning of teratogen exposures, and act as an information centre regarding clusters, and exposures to risk factors of concern.
Background: The consequence of prenatal detection of fetuses with congenital anomalies is induced ter- mination of pregnancy (TOP). The analysis of the indications for TOP and the agreements between ...prenatal and pathohistological findings is required to assess the quality of work and the appropriateness of diagnostic procedures. Methods: This retrospective analysis involved the indications for TOP performed for congenital fetal anomalies between January 2005 and March 2009. The TOP cases were divided into two groups: the early (up to 22 week, abortion) and the late (≥ 22 weeks 0/7, delivery) termina- tion group. With regard to the agreement between prenatal and pathohistological postmor- tem findings, 3 groups were created: complete agreement, agreement with additional data provided by pathohistological analysis, disagreement of findings. Results: Of the 220 cases of TOP for congenital anomalies, 180 (82 %) were abortion cases and 40 (18 %) were labour cases. In both groups, the most frequent causes for TOP were fetal structural abnormalities that were not due to chromosomal anomalies (102 (57 %) in the abortion group and 38 (95 %) in the delivery group). The percentage of chromosomal/monogenic anomalies was statistically significantly higher in the abortion (43 %) than in the labour group (only 5 %) (p < 0.001). Pathohistological examination was performed in 172 cases. In 126 (73 %) cases the agreement between prenatal ultrasound and pathohistological find- ings was complete and in 37 (22 %) pathohistological findings provided additional data on congenital anomalies that did not change the prenatally made diagnosis and would not affect the management of pregnancy. In none of the cases did pathohistological findings reject the prenatally made diagnosis. Conclusions: Fetal structural anomalies are frequent cause of TOP. Pathohistological examination of the fetus confirmed the prenatal diagnosis in all the cases, whereas in one fourth of the cases it provided additional information on congenital anomalies.
