A sustainable solution for the activities of the European network for surveillance of congenital anomalies: EUROCAT as part of the EU Platform on Rare Diseases Registration

Kinsner‐Ovaskainen, Agnieszka; Lanzoni, Monica; Garne, Ester; Loane, Maria; Morris, Joan K.; Neville, Amanda J.; Nicholl, Ciarán; Rankin, Judith; Rißmann, Anke; Tucker, David; Martin, Simona Cristina

doi:10.1016/j.ejmg.2018.03.008

Cited by 54 publications

(43 citation statements)

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“…EUROCAT currently surveys births from 39 registries in 21 countries in Europe ( 15 , 16 ). The EUROCAT coverage varies over time according to which registries are able to provide data, with the maximum coverage being over 1.7 million births per year (39% of births in Europe).…”

Section: Methodsmentioning

confidence: 99%

Prevention of Neural Tube Defects in Europe: A Public Health Failure

et al. 2021

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Objective: Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending that women take 0.4 mg folic acid before becoming pregnant and during the first trimester, the prevalence of NTD pregnancies has not materially decreased in the EU since 1998, in contrast to the dramatic fall observed in the USA. This study aimed to estimate the number of NTD pregnancies that would have been prevented if flour had been fortified with folic acid in Europe from 1998 as it had been in the USA.Design and Setting: The number of NTD pregnancies from 1998 to 2017 that would have been prevented if folic acid fortification had been implemented in the 28 countries who were members of the European Union in 2019 was predicted was predicted using data on NTD prevalence from 35 EUROCAT congenital anomaly registries and literature searches for population serum folate levels and folic acid supplementation.Results: From 1998 to 2017 an estimated 95,213 NTD pregnancies occurred amongst 104 million births in the 28 countries in the EU, a prevalence of 0.92 per 1,000 births. The median serum folate level in Europe over this time period was estimated to be 14.1 μg/L. There is a lack of information about women taking folic acid supplements before becoming pregnant and during the first trimester of pregnancy, with one meta-analysis indicating that around 25% of women did so. An estimated 14,600 NTD pregnancies may have been prevented if the European countries had implemented fortification at the level adopted by the USA in 1998 and 25% of women took folic acid supplements. An estimated 19,500 NTD pregnancies would have been prevented if no women took folic acid supplements.Conclusions: This study suggests that failure to implement mandatory folic acid fortification in the 28 European countries has caused, and continues to cause, neural tube defects to occur in almost 1,000 pregnancies every year.

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Section: Methodsmentioning

confidence: 99%

Prevention of Neural Tube Defects in Europe: A Public Health Failure

et al. 2021

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“…EUROCAT-European Surveillance of Congenital Anomalies -is the European network of the registries of congenital anomalies, which collects cases diagnosed mostly to up to 1 year of age. All registries report cases annually to the central database operated at the European Commission's Joint Research Center (JRC) in Italy [25,26]. EUROCAT includes all birth outcomes: LBs, late fetal deaths (>=20 weeks gestation) and terminations of pregnancy for fetal anomaly following prenatal diagnosis at any gestation (TOPFA) [25,27].…”

Section: Methodsmentioning

confidence: 99%

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

et al. 2019

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Background: Dandy-Walker (DW) malformation is a rare and severe congenital anomaly of the posterior fossa affecting the development of the cerebellum and the fourth ventricle. Objective: The aim of this study was to investigate the epidemiology of DW malformation, using data from the European population-based registries of congenital anomalies in the European Surveillance of Congenital Anomalies network. Methods: Anonymous individual data on cases of DW malformation diagnosed in 2002–2015 from 28 registries in 17 countries were included. Prevalence, prenatal detection rate, proportions and types of associated anomalies were estimated. Cases of DW variant were considered and analysed separately. Results: Out of 8,028,454 surveyed births we identified a total of 734 cases, including 562 DW malformation cases and 172 DW variant cases. The overall prevalence of DW malformation was 6.79 per 100,000 births (95% CI 5.79–7.96) with 39.2% livebirths, 4.3% foetal deaths from 20 weeks gestational age, and 56.5% terminations of pregnancy after prenatal diagnosis of foetal anomaly at any gestation (TOPFA). The livebirth prevalence was 2.74 per 100,000 births (95% CI 2.08–3.61). The prenatal detection rate was 87.6%. Two-hundred and seventy-three cases (48.6%) had an isolated cerebral anomaly and 24.2, 19.2 and 5.5% cases were associated with other structural non-cerebral anomalies, chromosomal anomalies and genetic syndromes respectively. The prevalence of DW variant was 2.08 per 100,000 (95% CI 1.39–3.13). Conclusions: This European population-based study provides the epidemiological profile of DW malformation. All birth outcomes were analysed and TOPFA represented more than half of the cases. About 50% of the cases of DW malformation were associated with other non-cerebral anomalies. Large populations and all birth outcomes are essential in epidemiological studies of rare and severe congenital anomalies.

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“…(5) The Congenital Anomalies and Hereditary Diseases Registry of Navarre, a population-based listing affiliated member to EUROCAT [37]. Keyword diagnostic searches were used to select patients suffering IMDs.…”

Section: Introductionmentioning

confidence: 99%

Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

Pagola-Lorz

Vicente

Ibáñez

et al. 2019

Orphanet J Rare Dis

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BackgroundInherited muscle diseases are a group of rare heterogeneous muscle conditions with great impact on quality of life, for which variable prevalence has previously been reported, probably due to case selection bias. The aim of this study is to estimate the overall and selective prevalence rates of inherited muscle diseases in a northern Spanish region and to describe their demographic and genetic features. Retrospective identification of patients with inherited muscle diseases between 2000 and 2015 from multiple data sources. Demographic and molecular data were registered.ResultsOn January 1, 2016, the overall prevalence of inherited muscle diseases was 59.00/ 100,000 inhabitants (CI 95%; 53.35–65.26). Prevalence was significantly greater in men (67.33/100,000) in comparison to women (50.80/100,000) (p = 0.006). The highest value was seen in the age range between 45 and 54 (91.32/100,000) years. Myotonic dystrophy type 1 was the most common condition (35.90/100,000), followed by facioscapulohumeral muscular dystrophy (5.15/100,000) and limb-girdle muscular dystrophy type 2A (2.5/100,000).ConclusionsPrevalence of inherited muscle diseases in Navarre is high in comparison with the data reported for other geographical regions. Standard procedures and analyses of multiple data sources are needed for epidemiological studies of this heterogeneous group of diseases.

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A sustainable solution for the activities of the European network for surveillance of congenital anomalies: EUROCAT as part of the EU Platform on Rare Diseases Registration

Cited by 54 publications

References 2 publications

Prevention of Neural Tube Defects in Europe: A Public Health Failure

Prevention of Neural Tube Defects in Europe: A Public Health Failure

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

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