Search

Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. We used data from the European surveillance of congenital anomalies (EUROCAT) network including data from 30 registries over 1980–2019. We included all pregnancy outcomes, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. ABS and LBWC cases were extracted from the central EUROCAT database using coding information responses from the registries. In total, 866 ABS cases and 451 LBWC cases were included in this study. The mean prevalence was 0.53/10,000 births for ABS and 0.34/10,000 births for LBWC during the 40 years. Prevalence of both ABS and LBWC was lower in the 1980s and higher in the United Kingdom. Limb anomalies and neural tube defects were commonly see in ABS, whereas in LBWC abdominal and thoracic wall defects and limb anomalies were most prevalent. Twinning was confirmed as a risk factor for both ABS and LBWC. This study includes the largest cohort of ABS and LBWC cases ever reported over a large time period using standardized EUROCAT data. Prevalence, clinical characteristics, and the phenotypic spectrum are described, and twinning is confirmed as a risk factor. info:eu-repo/semantics/publishedVersion

[Corrections added after online publication, 16 November 2022: The last name of Dr. Jennifer M. Broughan was incorrectly spelled in the initial publication. It has been corrected.] Background: Younger mothers are at a greater risk of having a pregnancy with gastroschisis and the risk is higher in the United Kingdom than other European countries. Gastroschisis is thought to be a vascular disruption anomaly and the aim of this study was to analyze the prevalence of other possible vascular disruption anomalies to determine whether both the younger maternal age and the UK associations also occur with these anomalies. Methods: All pregnancies with anomalies considered potentially due to vascular disruption from January 1, 2005 to December 31, 2017 from 26 European population-based congenital anomaly registries who were members of EUROCAT were analyzed. Multilevel models were used to allow for differences between registries when analyzing associations with maternal age, year of birth and whether the registry was in the United Kingdom. Results: There were 5,220 cases with potential vascular disruption anomalies, excluding chromosomal and genetic conditions, with a prevalence of 8.85 per 10,000 births in the United Kingdom and 5.44 in the other European countries. The prevalence per 10,000 births of gastroschisis (4.45 vs. 1.56) and congenital constriction bands (0.83 vs. 0.42) was significantly higher in the United Kingdom, even after adjusting for maternal age. However, transverse limb reduction defects had a similar prevalence (2.16 vs. 2.14 per 10,000). The expected increased prevalence in younger mothers was observed for vascular disruption anomalies overall and for the individual anomalies: gastroschisis and congenital constriction bands. Conclusion: Vascular disruption anomalies that had an increased risk for younger mothers (such as gastroschisis) had a higher maternal age standardized prevalence in the United Kingdom, while vascular disruption anomalies with weaker associations with younger mothers (such as transverse limb reduction defects) did not have an increased prevalence in the United Kingdom, which may indicate a different etiology for these anomalies. European Commission info:eu-repo/semantics/publishedVersion

Background Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and medium-sized studies. Objectives This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anomalies (EUROCAT). Methods Twenty-eight EUROCAT population-based registries in 16 European countries were involved. Poisson regression models were exploited to estimate the overall and live birth prevalence, to test time trends in prevalence between four 5-year periods and to evaluate the impact of the change of coding for ACC from the unspecific ICD9-BPA code to the specific ICD10 code. Proportions of ACC cases associated with other anomalies were reported. Results Five hundred cases were identified in the period 1998–2017 (prevalence: 5.10 per 100,000 births). Prevalence across 5-year periods did not differ significantly and no significant differences were evident due to the change from ICD9 to ICD10 in ACC coding. Heterogeneity in prevalence was observed across registries. The scalp was the most common site for ACC (96.4%) and associated congenital anomalies were present in 33.8% of cases. Patau and Adams–Oliver syndromes were the most frequent among the associated chromosomal anomalies (88.3%) and the associated genetic syndromes (57.7%), respectively. 16% of cases were associated with limb anomalies and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases. Conclusion To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies.

Background: Pierre Robin sequence (PRS) is a rare congenital anomaly. Respiratory disorders and feeding difficulties represent the main burden. Objective: The aim of this study was to investigate the epidemiology of PRS using a cohort of cases from EUROCAT, the European network of population-based registries of congenital anomalies. Methods: We analysed cases of PRS born in the period 1998-2017 collected by 29 population-based congenital anomaly registries in 17 different countries. We calculated prevalence estimates, prenatal detection rate, survival up to 1 week, and proportions of associated anomalies. The effect of maternal age was tested using a Poisson regression model. Results: Out of 11 669 155 surveyed births, a total of 1294 cases of PRS were identified. The estimate of the overall prevalence was 12.0 per 100 000 births (95% CI 9.9, 14.5). There was a total of 882 (68.2%) isolated cases, and the prevalence was 7.8 per 100 000 births (95% CI 6.7, 9.2). A total of 250 cases (19.3%) were associated with other structural congenital anomalies, 77 cases (6.0%) were associated with chromosomal anomalies and 77 (6.0%) with genetic syndromes. The prenatal detection rate in isolated cases was 12.0% (95% CI 9.8, 14.5) and increased to 16.0% (95% CI 12.7, 19.7) in the sub-period 2008-2017. The prevalence rate ratio of non-chromosomal cases with maternal age ≥35 was higher than in cases with maternal age

in Portuguese, English. Introdução: A prevalência de cardiopatias congénitas em Portugal é de 8,3/1000 nascimentos; cardiopatias congénitas críticas não detectadas podem resultar em graves consequências para o feto/recém-nascido. O objectivo deste trabalho é descrever os casos de cardiopatia congénita reportados em Portugal em 2015 quanto ao diagnóstico pré-natal, patologia cardíaca e à presença de outras malformações congénitas ou anomalias cromossómicas. Estas características são comparadas nos subgrupos dos nados-vivos e de interrupção médica da gravidez. Por último, caracterizam-se os óbitos. Material e Métodos: Os dados de cardiopatias congénitas reportadas ao Registo Nacional de Anomalias Congénitas em 2015 foram analisados, e calculadas as taxas de prevalência por 1000 nascimentos, comparadas utilizando teste de independência do quiquadrado. Resultados: A prevalência de cardiopatias congénitas neste estudo foi de 5/1000, (339 nados-vivos, 20% com cardiopatias congénitas críticas). As cardiopatias mais frequentes foram as seguintes: comunicação interventricular (38%), comunicação interauricular (15%), coartação da aorta (7%), tetralogia de Fallot (7%) e estenose pulmonar (5%). Um terço dos nados-vivos teve diagnostico pré-natal de cardiopatia. Dos nados-vivos com cardiopatias congénitas críticas, 54% teve diagnostico pré-natal e 14% foi diagnosticado ao nascer. Foram identificados 84 registos de interrupção médica da gravidez; 49% apresentava cardiopatias congénitas críticas, 75% outras malformações associadas, e 40% cromossomopatias. Foram registados 15 óbitos (3,4% de mortalidade) associados a prematuridade e/ou baixo-peso ao nascer, cardiopatias congénitas críticas, outras malformações e anomalias cromossómicas. Discussão: A prevalência de cardiopatias congénitas neste estudo (5/1000 nascimentos) foi inferior ao descrito noutros estudos internacionais, não obstante uma distribuição por tipo de anomalia semelhante ao previamente reportado. Observaram-se assimetrias regionais significativas que necessitam de mais investigação. Conclusão: Este estudo é relevante para melhor conhecimento da realidade nacional e organização dos Cuidados de Saúde. É importante uma maior adesão ao Registo Nacional de Anomalias Congénitas. Palavras-chave: Cardiopatias Congénitas/epidemiologia; Portugal; Registos Introduction: The prevalence at birth of congenital heart disease in Portugal is 8.3/1000 births; undetected critical congenital heart disease may result in adverse outcomes for the fetus/newborn infant. This study describes the reported cases of congenital heart disease in Portugal in 2015 regarding antenatal diagnosis, cardiac defect, and presence of other congenital anomalies/chromosomal abnormalities. These indicators are compared in live births and medical pregnancy terminations. Additionally, postnatal deaths were characterized. Material and methods: Congenital heart disease data derived from the 2015 Portuguese National Registry of Congenital Birth Defects were analyzed. The prevalence rates per 1000 births were assessed by the chi-square test of independence. Results: The prevalence of congenital heart disease in this study was 5/1000 live-births (339 live-births, 20% with critical defects). The most common defects were ventricular septal defect (38%), atrial septal defect (15%), aortic coarctation (7%), tetralogy of Fallot (7%) and pulmonary stenosis (5%). One third of the live births had antenatal diagnosis of congenital heart disease. In the live-births with critical congenital heart disease, 54% had antenatal diagnosis and 14% were diagnosed at birth. There were records of 84 pregnancy terminations; 49% had critical defects, 75% had non-cardiac congenital anomalies and 40% had chromosomal abnormalities. There were 15 postnatal deaths recorded (3.4% mortality rate), associated with prematurity/low birthweight, critical congenital heart disease, other non-cardiac congenital anomalies and chromosomal abnormalities. Discussion: The data analysis revealed a prevalence of congenital heart disease in this study of 5/1000 births (inferior to other international studies), with a distribution per type of anomaly similar to that reported in previously published work. There were significant regional differences that need further studying. Conclusion: These results are paramount to characterize the Portuguese scenario and improve Healthcare planning. It is important to improve reporting in the Portuguese National Registry of Congenital Birth Defects. info:eu-repo/semantics/publishedVersion

Members of the Comprehensive CA-CP study group: Paula Braz and Daniel Virella, Portugal. Departamento de Epidemiologia do INSA Aim: To describe the frequency and types of major congenital anomalies present in children with pre- or perinatally acquired cerebral palsy (CP), and compare clinical outcomes for children with and without anomalies. Method: This multi-centre total population collaborative study between Surveillance of Cerebral Palsy in Europe, Australian Cerebral Palsy Register, and European Surveillance of Congenital Anomalies (EUROCAT) involved six European and three Australian regions. Data were linked between each region's CP and congenital anomaly register for children born between 1991 and 2009, and then pooled. Children were classified into mutually exclusive categories based on type of anomaly. Proportions of children with congenital anomalies were calculated, and clinical outcomes compared between children with and without anomalies. Results: Of 8201 children with CP, 22.8% (95% confidence interval [CI] 21.9, 23.8) had a major congenital anomaly. Isolated cerebral anomalies were most common (45.2%), with a further 8.6% having both cerebral and non-cerebral anomalies. Cardiac anomalies only were described in 10.5% of children and anomalies associated with syndromes were also reported: genetic (8.0%), chromosomal (5.7%), and teratogenic (3.0%). Clinical outcomes were more severe for children with CP and congenital anomalies, particularly cerebral anomalies. Interpretation: This large, international study reports major congenital anomalies in nearly one-quarter of children with pre- or perinatally acquired CP. Future research must focus on aetiological pathways to CP that include specific patterns of congenital anomalies. What this paper adds: Congenital anomalies were reported in 23% of children with pre- or perinatally acquired cerebral palsy. A higher proportion of children born at or near term had anomalies. The most common type of anomalies were isolated cerebral anomalies. Clinical outcomes were more severe for children with congenital anomalies (particularly cerebral). Cerebral Palsy Alliance Research Foundation. Grant Numbers: PG1215, PG2816, Salary support (SG, SM, HSS, NB) info:eu-repo/semantics/publishedVersion

Background: The total prevalence of congenital heart defects (CHDs) varies by populations and over time. Studies that examine trends in the prevalence of CHD in different regions may shed light on our understanding of the occurrence of CHD and the impact of different risk factors. Objectives: To examine trends in total and live birth prevalence of nonsyndromic CHD in Europe between the years 2008 and 2015 and to investigate if the decreasing trend reported by previous studies is continuing. Methods: Cases of CHD delivered between January 1, 2008 and December 31, 2015 notified to 25 population-based EUROCAT (European Surveillance of Congenital Anomalies) registries in 14 countries, formed the population-based case-series. Prevalence (total/live) rates and 95% confidence intervals were calculated as the number of cases per 10,000 births (live and stillbirths). Time trends in prevalence of all nonsyndromic CHDs and for three CHD severity groups (very severe, severe, and less severe) were plotted using a Poisson regression multilevel approach. Results: The total prevalence of nonsyndromic CHD was 57.1 per 10,000 births (live births and stillbirths) for the 8-year period and remained stable across the three CHD severity groups while the live birth prevalence was 60.2 per 10,000 births. There was considerable variation in the reported total CHD prevalence and the direction of trends by registry. A decreasing prevalence ofCHD was observed for the Norway and England/Wales registries, whereas the CHD prevalence increased for registries in Italy and Croatia. Conclusions: The total prevalence of CHD in Europe between the years 2008 and 2015 remained stable for all CHD and across the three CHD severity groups. The decreasing trend reported by previous studies has not continued. However, we found significant differences in the total and live birth prevalence by registry. info:eu-repo/semantics/publishedVersion

ObjectiveTo survey parents and carers of children with a congenital anomaly across Europe about their experiences of healthcare services and support during the COVID-19 pandemic.DesignCross-sectional study.SettingOnline survey in 10 European countries, open from 8 March 2021 to 14 July 2021.Population1070 parents and carers of children aged 0–10 years with a cleft lip, spina bifida, congenital heart defect (CHD) requiring surgery and/or Down syndrome.Main outcome measuresParental views about: the provision of care for their child (cancellation/postponement of appointments, virtual appointments, access to medication), the impact of disruptions to healthcare on their child’s health and well-being, and satisfaction with support from medical sources, organisations and close relationships.ResultsDisruptions to healthcare appointments were significantly higher (pConclusionA large proportion of participants reported disruptions to healthcare during the pandemic, which for some had a significant impact on their child’s health. Regional differences in disruptions raise questions about the competence of certain healthcare systems to meet the needs of this vulnerable group of patients and indicate improvements should be strived for in some regions.

Coordenador do Registo Nacional de Anomalias Congénitas: Carlos Matias Dias Relatório elaborado a novembro de 2021 O Registo Nacional de Anomalias Congénitas (RENAC) é um registo nosológico de base populacional, que recebe notificações de casos de anomalias congénitas major diagnosticadas em recém-nascidos vivos, em fetos mortos e nos fetos após interrupção médica da gravidez devida ao diagnóstico de uma anomalia grave. É objetivo do RENAC produzir e disseminar informação sobre a epidemiologia das anomalias congénitas em Portugal através do desenvolvimento e aplicação de metodologias que permitam a monitorização e a vigilância das anomalias congénitas, patologias e determinantes associados, assim como contribuir para avaliar a efetividade de algumas das medidas preventivas e o impacte do diagnóstico pré-natal. Neste relatório são apresentados os dados referentes aos anos de 2018 e 2019. Do relatório 2018-2019 apresentado, destacam-se os seguintes resultados: - As cardiopatias congénitas mantêm-se como o grupo de AC mais prevalente (68,08 casos/10 000 nascimentos) seguido do grupo das AC do sistema músculo-esquelético (40,01 casos/10 000 nascimentos). Também se evidenciam com frequências elevadas, as AC cromossómicas (34,10 casos/10 000 nascimentos), as AC do Aparelho urinário (28,13 casos/10 000 nascimentos) e as AC do SNC (21,01 casos/10 000 nascimentos); - No total de casos notificados com AC, 63,3% foram detetados na fase pré-natal, valor superior ao observado no biénio anterior. Em aproximadamente 89% destes casos, foi a ecografia obstétrica o primeiro exame pré-natal a revelar a presença de alterações; - A percentagem de nascimentos em mulheres com idade igual ou superior a 40 anos, 13,3%, aumentou relativamente à observada nos biénios anteriores (11,6% em 2016-2017 e 8,9% em 2014-2015); - O início da toma de ácido fólico antes da gravidez foi observado em cerca de 18% das notificações recebidas, frequência semelhante à observada noutros anos, e abaixo do desejável relativamente ao objetivo de prevenção primária dos defeitos do tubo neural. info:eu-repo/semantics/publishedVersion

ObjectiveMethadone is a vital treatment for women with opioid use disorder in pregnancy. Previous reports suggested an association between methadone exposure and Pierre Robin sequence (PRS), a rare craniofacial anomaly. We assessed the association between gestational methadone exposure and PRS.Design/settingThis case-malformed control study used European Surveillance of Congenital Anomalies population-based registries in Ireland, the Netherlands, Italy, Switzerland, Croatia, Malta, Portugal, Germany, Wales, Norway and Spain, 1995–2011.PatientsCases included PRS based on International Classification of Disease (ICD), Ninth Edition-British Paediatric Association (BPA) code 75 603 or ICD, Tenth Edition-BPA code Q8708. Malformed controls were all non-PRS anomalies, excluding genetic conditions, among live births, fetal deaths from 20 weeks’ gestation and terminations of pregnancy for fetal anomalies. An exploratory analysis assessed the association between methadone exposure and other congenital anomalies (CAs) excluding PRS. Methadone exposure was ascertained from medical records and maternal interview.ResultsAmong 87 979 CA registrations, there were 127 methadone-exposed pregnancies and 336 PRS cases. There was an association between methadone exposure and PRS (OR adjusted for registry 12.3, 95% CI 5.7 to 26.8). In absolute terms, this association reflects a risk increase from approximately 1–12 cases per 10 000 births. A raised OR was found for cleft palate (adjusted OR 5.0, 95% CI 2.7 to 9.2).ConclusionsThese findings suggest that gestational methadone exposure is associated with PRS. The association may be explained by unmeasured confounding factors. The small increased risk of PRS in itself does not alter the risk–benefit balance for gestational methadone use. The association with cleft palate, a more common CA, should be assessed with independent data.

Background The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes. Methods A case-only study was performed assessing data on 501 cases recorded with VACTERL in the JRC-EUROCAT (Joint Research Centre-European Surveillance of Congenital Anomalies) central database (birth years: 1980-2015). We differentiated between major and minor VACTERL features and anomalies outside the VACTERL spectrum to create a clear definition of VACTERL. Results In total, 397 cases (79%) fulfilled our VACTERL diagnostic criteria. The most commonly observed major VACTERL features were anorectal malformations and esophageal atresia/tracheo-esophageal fistula (both occurring in 62% of VACTERL cases), followed by cardiac (57%), renal (51%), vertebral (33%), and limb anomalies (25%), in every possible combination. Three VACTERL subtypes were defined: STRICT-VACTERL, VACTERL-LIKE, and VACTERL-PLUS, based on severity and presence of additional congenital anomalies. Conclusion The clearly defined VACTERL component features and the VACTERL subtypes introduced will improve both clinical practice and etiologic research.

ObjectivesTo describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe.Design and settingCongenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births).ParticipantsAll birth outcomes (live births, fetal deaths from 20 weeks gestation and terminations of pregnancy after prenatal diagnosis of a fetal anomaly (TOPFA)) from 2005 to 2014.Main outcome measuresPrevalence, proportion of associated non-cerebral anomalies, prenatal detection rate.Results4927 cases with congenital cerebral anomalies were identified; a prevalence (adjusted for under-reporting) of 9.8 (95% CI: 8.5 to 11.2) per 10 000 births. There was a sixfold difference in prevalence across the registries. Registries with higher proportions of prenatal diagnoses had higher prevalence. Overall, 55% of all cases were liveborn, 3% were fetal deaths and 41% resulted in TOPFA. Forty-eight per cent of all cases were an isolated cerebral anomaly, 25% had associated non-cerebral anomalies and 27% were chromosomal or part of a syndrome (genetic or teratogenic). The prevalence excluding genetic or chromosomal conditions increased by 2.4% per annum (95% CI: 1.3% to 3.5%), with the increases occurring only for congenital malformations of the corpus callosum (3.0% per annum) and ‘other reduction deformities of the brain’ (2.8% per annum).ConclusionsOnly half of the cases were isolated cerebral anomalies. Improved prenatal and postnatal diagnosis may account for the increase in prevalence of congenital cerebral anomalies from 2005 to 2014. However, major differences in prevalence remain between regions.

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.

EUROlinkCAT Consortium: Abigail Reid, Liz Limb, Gillian Briggs, Nicholas Connor, Stine Kjaer Urhoj, Mads Damkjær, Christina Neergaard Pedersen, Svetlana V Glinianaia, Gianni Astolfi, Annarita Armaroli, Elisa Ballardini, Aurora Puccini, Ljubica Boban, Michele Santoro, Alessio Coi, Silvia Baldacci, Lorena Mezzasalma, L Renée Lutke, Nicole H A Siemensma-Mühlenberg, David Tucker, Babak Khoshnood, Nathalie Bertille, Nathalie Lelong, Makan Rahshenas, Clara Cavero Carbonell, Óscar Zurriaga, Laia Barrachina Bonet, Laura García Villodre, Anna Jamry-Dziurla, Anna Heino, Sonja Kiuru-Kuhlefelt, Mika Gissler, Wladimir Wertelecki, Lyubov Yevtushok, Nataliia Zymak-Zakutnia, Diana Akhmedzhanova, Lyubov Ostapchuk, Oksana Tsizh, Serhii Lapchenko, Carlos Matias Dias, Ausenda Machado, Ana João Santos, Liliana Antunes, Paula Braz, Hanitra Randrianaivo-Ranjatoelina, Guy Thys, Vera Nelen, Elly Den Hond, Olatz Mokoroa Carollo, Daniel Thayer, Ieuan Scanlon, Sue Jordan, Kari Klungsøyr, Miriam Gatt EUROlinkCAT Consortium: Carlos Matias Dias, Ausenda Machado, Ana João Santos, Liliana Antunes, Paula Braz (INSA, Portugal) Paediatrics - Protocol Introduction: Congenital anomalies (CAs) are a major cause of infant mortality, childhood morbidity and long-term disability. Over 130 000 children born in Europe every year will have a CA. This paper describes the EUROlinkCAT study, which is investigating the health and educational outcomes of children with CAs for the first 10 years of their lives. Methods and analysis: EUROCAT is a European network of population-based registries for the epidemiological surveillance of CAs. EUROlinkCAT is using the EUROCAT infrastructure to support 22 EUROCAT registries in 14 countries to link their data on births with CAs to mortality, hospital discharge, prescription and educational databases. Once linked, each registry transforms their case data into a common data model (CDM) format and they are then supplied with common STATA syntax scripts to analyse their data. The resulting aggregate tables and analysis results are submitted to a central results repository (CRR) and meta-analyses are performed to summarise the results across all registries. The CRR currently contains data on 155 594 children with a CA followed up to age 10 from a population of 6 million births from 1995 to 2014. Ethics: The CA registries have the required ethics permissions for routine surveillance and transmission of anonymised data to the EUROCAT central database. Each registry is responsible for applying for and obtaining additional ethics and other permissions required for their participation in EUROlinkCAT. Dissemination: The CDM and associated documentation, including linkage and standardisation procedures, will be available post-EUROlinkCAT thus facilitating future local, national and European-level analyses to improve healthcare. Recommendations to improve the accuracy of routinely collected data will be made.Findings will provide evidence to inform parents, health professionals, public health authorities and national treatment guidelines to optimise diagnosis, prevention and treatment for these children with a view to reducing health inequalities in Europe. This project has received funding from the European Union’s Horizon 2020 Research and Innovation programme under grant agreement No 733001 for 5 years: 1 January 2017 to 31 December 2021. The views presented here are those of the authors only, and the European Commission is not responsible for any use that may be made of the information presented here. info:eu-repo/semantics/publishedVersion

Comprehensive CA-CP Study Group: Ingeborg Barisic, Vlatka Bosnjak Mejaski, Emmanuelle Amar, Elodie Sellier, Sandra Julsen Hollung, Kari Klungsøyr, Paula Braz, Daniel Virella, Catherine Gibson, Karin Källén, Susan M Reid, Gareth Baynam, Dylan Gration, Michèle Hansen, Linda Watson Comprehensive CA-CP Study Group: Paula Braz, Daniel Virella. INSA, Portugal. Aim: To describe the major congenital anomalies present in children with postneonatally acquired cerebral palsy (CP), and to compare clinical outcomes and cause of postneonatally acquired CP between children with and without anomalies. Method: Data were linked between total population CP and congenital anomaly registers in five European and three Australian regions for children born 1991 to 2009 (n=468 children with postneonatally acquired CP; 255 males, 213 females). Data were pooled and children classified into mutually exclusive categories based on type of congenital anomaly. The proportion of children with congenital anomalies was calculated. Clinical outcomes and cause of postneonatally acquired CP were compared between children with and without anomalies. Results: Major congenital anomalies were reported in 25.6% (95% confidence interval [CI] 21.7-29.9) of children with postneonatally acquired CP. Cardiac anomalies, often severe, were common and present in 14.5% of children with postneonatally acquired CP. Clinical outcomes were not more severe in children with congenital anomalies than those without anomalies. Cause of postneonatally acquired CP differed with the presence of congenital anomalies, with cerebrovascular accidents predominating in the anomaly group. Congenital anomalies were likely associated with cause of postneonatally acquired CP in 77% of children with anomalies. Interpretation: In this large, international study of children with postneonatally acquired CP, congenital anomalies (particularly cardiac anomalies) were common. Future research should determine specific causal pathways to postneonatally acquired CP that include congenital anomalies to identify opportunities for prevention. What this paper adds: One-quarter of children with postneonatally acquired cerebral palsy (CP) have a major congenital anomaly. Cardiac anomalies, often severe, are the most common anomalies. Causes of postneonatally acquired CP differ between children with and without congenital anomalies. Objetivo: Describir las principales anomalías congenitas presentes en niños con parálisis cerebral (PC) adquirida posnatalmente y comparar los resultados clínicos y la causa de PC entre niños con y sin anomalías. Método: Se relacionaron los registros de datos de la población con PC y los registros de anomalías congenitas de cinco regiones de Europa y tres de Australia de niños nacidos de 1991 a 2009 (n = 468 niños con PC adquirida posnatalmente; 255 varones, 213 mujeres). Se agruparon los datos y clasificaron en categor ıas mutuamente excluyentes segun el tipo de anomalías congenita. Se calcul o la pro-porcion de ni nos con anomalías congenitas. Se compararon los resultados clínicos y la causa de la PC adquirida posnatalmente entre niños con y sin anomalías. Resultados: Se registraron anomalías congenitas importantes en el 25,6% (intervalo de confianza [IC] del 95%: 21,7-29,9) de los niños con PC adquirida despues del nacimiento. Hubo una alta frecuencia de anomalías cardíacas, que estaban presentes en el 14,5% de los niños con PC adquirida posnatalmente. La evolución clínica no fue diferentes entre niños con o sin anomalías congenitas. La causa de PC adquirida posnatalmente vario con la presencia de anomalías congenitas, predominando los accidentes cerebrovasculares en el grupo de anomalías congenitas. La causa de PC adquirida posnatalmente esta probablemente asociada con anomalias congenitas en el 77% de los niños con anomalías. Interpretacion: En este estudio internacional de niños con PC adquirida posnatalmente, las anomalías congenitas fueron frecuentes, particularmente las anomalías cardíacas. Las investigaciones futuras deben determinar las vías causales específicas de la PC adquirida posnatalmente que incluyen anomalías congenitas para identificar oportunidades de prevención. info:eu-repo/semantics/publishedVersion

Indicadores são instrumentos de medida que permitem construir um resumo quantitativo que reflita, direta ou indiretamente, o estado de saúde da população e das políticas de saúde, assim como medem o efeito das intervenções. Na área das anomalias congénitas, o indicador “Prevalência nados-vivos com síndrome de Down” pretende medir o efeito conjunto da gravidez tardia e do impacto das políticas de diagnóstico pré-natal. Apresentam-se os resultados desse indicador para os anos de 2011 a 2017, utilizando os dados do Registo Nacional de Anomalias Congénitas. Foram notificados 1012 nascimentos com síndrome de Down, dos quais 82,5% foram diagnosticados no período pré-natal. Dos 266 que nasceram vivos, 66,5% foram diagnosticados ao nascer e 33,4% foram diagnosticados durante a gravidez através de estudo cromossómico. A realização de exames invasivos, após a suspeita de síndrome de Down, foi recusada pelos progenitores em 20,7% casos. Fatores morais, éticos ou religiosos podem estar associados à não realização de exames invasivos, sendo necessários mais estudos a nível nacional sobre esta temática. Este estudo evidencia uma aplicação em saúde pública dos dados do Registo Nacional de Anomalias Congénitas, observando-se um impacto positivo da disponibilidade de diagnóstico pré-natal na vigilância da gravidez ao permitir o diagnóstico pré-natal de 82,5% de todos os casos com síndrome de Down. An indicator is a quantitative or qualitative measure of how close we are to achieving the health status of the population, or to measure the effect of a policy intervention. In the congenital anomalies field, the “Prevalence of live births with Down Syndrome” reflects the combined effect of delayed childbearing age and prenatal diagnosis policies. We used data from the National Registry of Congenital Anomalies between 2011 and 2017. The analyses included 1012 registered cases with Down syndrome of which 82.5% had been prenatally diagnosed. Among the 266 live births, 66.5% were diagnosed at birth and 33.4% were diagnosed during pregnancy and confirmed by karyotype analysis. Invasive prenatal procedures such as amniocentesis or chorionic villus sampling were refused by 20.7% of parents. Cultural factors may be associated with the decision of not perform invasive prenatal testing, but more studies are needed at national level to better understand this topic. This paper describes the contribution of the National Registry of Congenital Anomalies data to build public health indicators. This indicator shows a positive impact of prenatal diagnosis policy on pregnancy surveillance when 82.5% of all cases of Down syndrome during pregnancy. info:eu-repo/semantics/publishedVersion

Neural tube defects (NTD) occurs when the neural tube does not close properly until the 28th day of foetal life. About 70% of NTD can be prevent if women start folic acid (FA) before pregnancy and until the end of 1st trimester. Portugal has this primary prevention since 1998, however the secondary prevention of NTD with TOPFA is still high (80%). The aim of this study is to describe when FA intake was started and estimate the number of cases that would have be prevented if FA intake started before pregnancy as recommended. A cross-sectional study using data from the National Registry of Congenital Anomalies between 2004-2017 was performed. The temporal evolution of the beginning of FA intake was analysed with Cochran-Armitage test for proportions. The proportion of preventable cases was estimated considering the 70% prevention fraction and the number of NTD cases registered in RENAC that occurred in pregnancies without the recommended FA supplementation. On average, 13.8% of all women started FA before pregnancy, 46.2% during 1st trimester and 6.1% did not take folic acid. A statistically significant trend (p In Portugal, the proportion of women who adhere to this measure is very low, similarly to other European countries, compromising the primary prevention of NTD. Perhaps due to the high percentage of TOPFA, the idea that this anomalies continue to affect our children has been lost. Primary prevention of NTDs should be encouraged with measures that promote FA supplementation. Key messages Primary prevention of NTD is possible. Proportion of women who adhere to primary prevention is low.

Coordenador do Registo Nacional de Anomalias Congénitas: Carlos Matias Dias O Registo Nacional de Anomalias Congénitas (RENAC) é um registo nosológico de base populacional, que recebe notificações de casos de anomalias congénitas major diagnosticadas em recém-nascidos vivos, em fetos mortos e nos fetos após interrupção médica da gravidez devida ao diagnóstico de uma anomalia grave. É objetivo do RENAC produzir e disseminar informação sobre a epidemiologia das anomalias congénitas em Portugal através do desenvolvimento e aplicação de metodologias que permitam a monitorização e a vigilância das anomalias congénitas, patologias e determinantes associados, assim como contribuir para avaliar a efetividade de algumas das medidas preventivas e o impacte do diagnóstico pré-natal. Neste relatório são apresentados os dados referentes aos anos de 2016 e 2017. Do relatório 2016-2017 apresentado, destacam-se os seguintes resultados: - As cardiopatias congénitas foram o grupo de AC mais prevalente (78,45 casos/10 000 nascimentos), seguido do grupo das AC do sistema músculo-esquelético (47,85 casos/10 000 nascimentos). Também se evidenciam com frequências elevadas, as AC do aparelho urinário (cerca de 35,54 casos/10 000 nascimentos), as AC cromossómicas (33,53 casos/10 000 nascimentos) e as AC do sistema nervoso central (21,22 casos/10 000 nascimentos); - Cerca de 59% de todos os casos com AC foram detetados na fase pré-natal, valor semelhante ao observado no biénio anterior; - A percentagem de nascimentos em mulheres com idade igual ou superior a 40 anos, 11,6%, aumentou relativamente à observada no biénio anterior (8,9%); - O início da toma de ácido fólico antes da gravidez foi observado em 17,4% das notificações recebidas, valor abaixo do desejável relativamente ao objetivo de prevenção primária dos defeitos do tubo neural. N/A

Os defeitos do tubo neural (DTN) que ocorrem quando não se verifica o encerramento desta estrutura até ao 28º dia de vida fetal, podem ser alvo de uma medida de prevenção primária através da suplementação com ácido fólico, se iniciada antes da gravidez e até ao final do 1º trimestre, a qual tem o potencial para reduzir o risco daquelas anomalias em cerca de 70%. Em Por tugal, a Circular Normativa 02/DSMIA emitida pela DGS, recomenda esta suplementação desde 1998. O presente estudo descreve a epidemiologia da toma de ácido fólico em Por tugal e estima o numero de casos de DTN que seriam prevenidos caso o início do suplemento tivesse começado antes da gravidez. Foi realizado um estudo transversal com dados do Registo Nacional de Anomalias Congénitas (RENAC) entre 2004 e 2017. A evolução temporal da frequência anual do início da toma de ácido fólico foi analisada através do teste de Cochran-Armitage para proporções. O número de casos preveníveis foi estimado considerando a fração de prevenção de 70% e o número de casos de DTN registados no RENAC que ocorreram em gravidezes sem a correta suplementação por ácido fólico. Em média, o início da suplementação pré-concepcional foi referido por 13,8% das mulheres, tendo sido notificados 538 casos de DTN. Estima-se uma prevenção de 202 casos de DTN se as mulheres tivessem iniciado a toma de ácido fólico antes da gravidez. A prevenção primária dos DTN deve ser encorajada através de medidas que promovam a suplementação por acido fólico. Neural tube defects (NTD) occur when the neural tube does not close properly until the 28th day of foetal life. These bir th defects have a primar y prevention measure available if folic acid supplementation star ts before pregnancy and stay until the end of the 1st trimester of pregnancy, resulting in an estimated 70% of NTD that can be prevented. Por tugal joined this recommendation since 1998 (Circular Normativa 02 / DSMIA). The aim of this study is to describe when folic acid intake was star ted and estimate the number of cases that would have be prevented if folic acid intake had star ted before pregnancy. A cross-sectional study was per formed using data from the National Registr y of Congenital Anomalies (RENAC) between 2004 and 2017. The temporal evolution of the beginning of folic acid intake was analysed with Cochran-Armitage test for propor tions. The propor tion of preventable cases was estimated considering the 70% prevention fraction and the number of NTD cases registered in RENAC that occurred in pregnancies without the recommended folic acid supplementation. On average, 13.8% of women repor ted star ted folic acid before pregnancy and 538 cases of NTD were repor ted. If all women had star ted folic acid before pregnancy, an estimated 202 cases could have been prevented. Primar y prevention of NTDs should be encouraged with measures that promote folic acid supplementation. info:eu-repo/semantics/publishedVersion

Background Using social media for research purposes is novel and challenging in terms of recruitment, participant knowledge about the research process, and ethical issues. This paper provides insight into the recruitment of European parents of children with specific congenital anomalies to engage in coproduction research by using social media. Secret Facebook groups, providing optimal security, were set up for newly recruited research-aware parents (RAPs) to communicate privately and confidentially with each other and for the research team to generate questions and to interpret findings. Objective This study aimed to use social media for the recruitment and engagement of parents in research and to determine the research priorities of parents who have children with Down syndrome, cleft lip with or without cleft palate, congenital heart defects, and spina bifida. Methods The design was exploratory and descriptive with 3 phases. Phase 1 included the recruitment of RAPs and generation of research questions important to them; phase 2 was a Web-based survey, designed using Qualtrics software, and phase 3 included analysis and ranking of the top 10 research questions using an adapted James Lind Alliance approach. Simple descriptive statistics were used for analysis, and ethical approval was obtained from the Ethics Filter Committee of the Institute of Nursing and Health Research, Ulster University. Results The recruitment of 32 RAPs was a sensitive process, varying in the time taken to consent (mean 51 days). However, parents valued the screening approach using the State-Trait Anxiety Inventory as a measure to ensure their well-being (mean 32.5). In phase 1, RAPs generated 98 research questions. In phase 2, 251 respondents accessed the Web-based survey, 248 consented, and 80 completed the survey, giving a completeness rate of 32.3% (80/248). Most parents used social media (74/80, 92%). Social media, online forums, and meeting in person were ranked the most preferable methods for communication with support groups networks and charities. Most respondents stated that they had a good understanding of research reports (71/80, 89%) and statistics (68/80, 85%) and could differentiate among the different types of research methodologies (62/80, 78%). Phase 3 demonstrated consensus among RAPs and survey respondents, with a need to know the facts about their child’s condition, future health, and psychosocial and educational outcomes for children with similar issues. Conclusions Social media is a valuable facilitator in the coproduction of research between parents and researchers. From a theoretical perspective, ocularcentrism can be an applicable frame of reference for understanding how people favor visual contact.

Introdução: A prevenção primária dos Defeitos do Tubo Neural (DTN) acontece através da suplementação com ácido fólico, com início antes da gravidez e até ao fim do primeiro trimestre. Em Portugal, esta prevenção pré-concecional é recomendada desde 1996, mas são poucos os estudos que analisam a adesão das mulheres a esta medida preventiva. Objectivo: É objetivo deste estudo descrever a utilização de ácido fólico na prevenção primária dos DTN, com dados do Registo Nacional de Anomalias Congénitas e da Rede de Médicos-Sentinela, no ano de 2017. Materiais e Métodos: Estudo observacional transversal que utiliza dados de dois instrumentos de observação e vigilância, no ano de 2017. A Rede de Médicos-Sentinela é um sistema de observação constituído por um conjunto de Médicos de Família que exercem funções em unidades de Cuidados de Saúde Primários. Para cada grávida que aceitou participar foi preenchido um questionário. O Registo Nacional de Anomalias Congénitas é um registo nosológico de base populacional que recebe notificações de nascimentos com malformações congénitas, assim como informação sobre comportamentos maternos. As variáveis utilizadas neste estudo foram, a idade da grávida, nível de escolaridade, profissão e a toma de ácido fólico. Resultados: No RENAC foram registadas 1238 gravidezes com malformações. A adesão pré-concecional à toma de ácido fólico foi observada em 17,9% (n=222) das mulheres tendo a maioria entre os 25-34 anos e profissões que exigem maior diferenciação académica. 45,4% (n=562) das mulheres iniciaram a toma de ácido fólico no primeiro trimestre da gravidez. 5,1% (n=63) não tomou e 31,6% (n=391) dos registos não continha esta informação. Na RMS foram notificadas 472 gravidezes. A adesão pré-concecional à toma de ácido fólico foi observada em 44,3% (n=190) das mulheres, tendo a maioria entre os 15-34 anos e nível de escolaridade pós-secundário. 55,7% (n=239) das mulheres iniciaram a toma de ácido fólico no primeiro trimestre da gravidez e 9,1% (n=43) não tomou. Conclusões: No âmbito do RENAC, a adesão à toma pré-concecional de ácido fólico foi de 18%, enquanto que na RMS, menos de metade (44%) das mulheres iniciou a prevenção primária dos DTN no período do estudo. A disparidade de resultados pode, entre outros, dever-se a algumas limitações inerentes dos registos estudados: a população observada na RMS pode não ser representativa da população de grávidas e pode ter havido sobre notificação, pois os médicos conheciam o objetivo do estudo. Quanto ao RENAC, o número de notificações sem a informação em estudo pode ser um viés para os resultados. Não obstante as limitações apresentadas, a baixa adesão ao consumo antes da gravidez realça a importância de se continuar a sensibilizar as mulheres para o início desta suplementação na fase recomendada, reforçando a promoção desta prevenção primária. N/A

Introdução: A utilização do suplemento com ácido fólico previne cerca de 70% dos Defeitos do Tubo Neural, quando administrado entre 3 meses antes da gravidez até ao fim do primeiro trimestre. Estudos sugerem que a idade e a escolaridade maternas influenciam a adesão a esta medida preventiva. É objetivo deste estudo descrever a utilização de ácido fólico na prevenção primária dos DTN, entre 2004 e 2017. Materiais e Métodos: Estudo transversal com dados do Registo Nacional de Anomalias Congénitas (RENAC) entre 2004 e 2017. Nas taxas de prevalência o numerador é constituído por recém-nascidos, fetos mortos e interrupções médicas de gravidez com DTN. Na associação entre variáveis foi utilizado o teste de Qui-quadrado e evolução temporal da prevalência foi avaliada por ajustamento do modelo de regressão linear. Resultados: Foram notificados 15486 casos com 25697 anomalias que incluíam 567 DTN. A prevalência foi de 4,2 casos/10000 nascimentos, variando entre 2 casos/10000 nascimentos (2007) e 7 casos/10000 nascimentos (2014). Nos DTN 49,7% (n=282) tinham espinha bífida, 37,7% (n=214) tinham anencefalia e 12,5% (n=71) tinham encefalocelo. A adesão preconcepcional foi observada em 13,8% (n=2138) das mulheres, tendo a maioria profissões que exigem maior diferenciação académica, 46,2% (n=7148) iniciaram o suplemento no 1º trimestre, 6,1% (n=942) não tomou e 34% (n=5258) dos registos não continha informação. Foram sobretudo as grávidas com idades inferiores a 19 anos que não tomaram ácido fólico. Conclusões: O numero de notificações sem a informação em estudo pode ser um viés para os resultados. Esta situação poderia ser colmatada com a introdução desta questão no Boletim de Saúde da Grávida. A baixa adesão ao consumo antes da gravidez e a associação com características maternas especificas, parecem mostrar a necessidade de reforçar a promoção desta prevenção primária. N/A

Antecedentes/Objetivos: A vigilância de condições pouco frequentes e o estudo dos seus fatores determinantes necessita informação de qualidade. Os registos de base populacional que mantém um processo continuado de recolha de dados, que privilegiam a exaustividade e a validade da informação, são essenciais. Em Portugal existem dois registos de base populacional que monitorizam os nascimentos com anomalias congénitas e paralisia cerebral, nomeadamente o Registo Nacional de Anomalias congénitas (RENAC) e o Programa de Vigilância Nacional de Paralisia Cerebral (PVNPC). Ambos participam num estudo internacional que estuda o papel das anomalias congénitas (AC) na paralisia cerebral (PC), pela ligação das matrizes de dados. Esta permite melhorar a informação em saúde, a adequação de recursos e um seguimento facilitador do estudo dos processos causais. Pretendeu-se descrever os resultados da ligação entre estas matrizes de dados. Métodos: Ligação probabilística das 2 matrizes de dados. Critérios de inclusão: crianças com pelo menos uma AC major, nascidas entre 2001 e 2009 (n = 7.167) e crianças com PC confirmada aos 5 anos de idade (n = 1.461). Porque não existe numero único de identificação do caso, as variáveis de ligação foram: data de nascimento, sexo, semanas de gestação, peso ao nascer, residência e idade da mãe na alturado parto. Resultados: Foram encontrados 195 possíveis pares de casos e 32 foram considerados verdadeiros pares. Destes 21,9% tinha pelo menos uma AC referenciada em ambos os registos e 9,4% tinha exactamente a mesma informação; 62,5% tinha múltiplas AC, sendo mais frequentes as cardíacas e do sistema nervoso central. Dos casos do PVNPC com malformação cerebral confirmada por RMN, 6,1% tinha sido notificado ao RENAC. Considerando os casos que não foram ligados, observou-se que há uma potencial recuperação de casos para o RENAC (n = 230) e potenciais casos para o PVNPC, após confirmação clínica (n = 1.770). Detectaram-se também pares de casos que não foram identificados pelo método e variáveis de ligação utilizadas. Conclusões/Recomendações: A ligação permitiu uma melhoria qualitativa e validação da informação. Verificou-se potencial recaptura para o RENAC e sinalização de casos para o PVNPC, após confirmação clinica aos 5 anos. No entanto, a ausência de numero único identificador do caso não permitiu a identificação de todos os pares de casos comuns. Apesar desta limitação demonstrou-se o potencial de complementaridade da informação e de seguimento destes casos, com consequente possibilidade de prevenção primária e secundária. info:eu-repo/semantics/publishedVersion

Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991-2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14-4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011-2015 vs. 36% in 1991-1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia. Funding for the JRC-EUROCAT Central Registry is described in Kinsner-Ovaskainen et al. (2018). We thank Prof. Joan Morris (St. George's University of London) for her helpful suggestions. info:eu-repo/semantics/publishedVersion

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.

É objetivo do Registo Nacional de Anomalias Congénitas (RENAC) fornecer informação sobre a epidemiologia das anomalias congénitas em Portugal nomeadamente desenvolvendo e aplicando metodologias que permitam não só a monitorização, mas também a vigilância das patologias, assim como avaliar a efetividade de medidas preventivas e o impacte do diagnóstico pré-natal. Neste âmbito, e na sequência do relatório RENAC 2000-2010, é adoptado no presente relatório um conjunto de indicadores com interesse para uma visão da importância da epidemiologia das anomalias congénitas na saúde pública. Estes indicadores resumem alguma da grande quantidade de informação epidemiológica que o RENAC recolhe e publica periodicamente sobre a prevalência, resultado da gravidez e do diagnóstico pré-natal em cada um dos vários subgrupos de anomalias congénitas existentes. São apresentadas comparações geográficas nacionais e internacionais, assim com tendências temporais destes indicadores para os anos de 2011 a 2015. Este relatório baseia-se nos relatórios anteriores recuperando algumas notificações em atraso (2011-2015) e apresenta um conjunto de indicadores que respondem aos objetivos do RENAC. N/A

Objectivo. Descrever os resultados da ligação entre as matrizes de dados (MD) do Registo Nacional de Anomalias Congénitas (RENAC) e do Programa de Vigilância Nacional de Paralisia Cerebral aos 5 Anos de idade (PVNPC5A). Métodos. Ligação probabilística entre duas MD: 1) RENAC com registos de crianças com pelo menos uma anomalia congénita (AC) major, nascidas entre 2001 e 2009 (n=7167); 2) PVNPC5A com registos de crianças com paralisia cerebral (PC) confirmada aos 5 anos de idade com ou sem AC (n=1461). As variáveis de ligação foram: data de nascimento, sexo, número de semanas de gestação, peso ao nascer, residência da mãe na altura do parto e idade da mãe. Resultados. Identificaram-se 195 possíveis pares de casos comuns aos dois registos; 32 foram considerados verdadeiros pares. Além das variáveis de ligação, 21,9% tinha pelo menos uma das AC referenciada em ambos os registos e 9,4% tinha exatamente a mesma informação. A maioria (62,5%) tinha múltiplas AC, as mais frequentes cardíacas e do sistema nervoso central. Dos casos notificados ao PVNPC5A com malformação cerebral confirmada por RMN, 6,1% tinha sido notificado ao RENAC. Considerando os casos que não foram ligados, por ausência de informação perinatal, observou-se que há uma potencial recuperação de casos para o RENAC (n=230) e potenciais casos para o PVNPC5A, após confirmação clinica (n=1770). Conclusões. A ligação permitiu, em ambos os registos, uma melhoria qualitativa e validação da informação nos casos notificados. Verificou-se potencial recaptura para o RENAC e sinalização de casos para o PVNPC5A, após confirmação clinica aos 5 anos N/A

Introdução: Anualmente em Portugal, cerca de 50 a 60 gravidezes são afetadas por uma anomalia congénita inserida no grupo dos Defeitos do Tubo Neural (DTN), nomeadamente espinha bífida, encefalocele e anencefalia. A suplementação com ácido fólico, preferencialmente iniciado na fase pré-concepcional, é a forma mais eficaz de prevenção destas patologias evitando cerca de 70% de novos casos. Juntamente com a vacina da rubéola são as únicas medidas de prevenção primária na área das anomalias congénitas. Em Março de 1998 foi emitida a primeira recomendação nacional sobre a prevenção primária dos DTN, atualizada em Janeiro de 2006. Recomenda a informação às mulheres em idade fértil sobre a importância de iniciar a suplementação com ácido fólico pelo menos dois meses antes de interromperem o método contraceptivo, dando liberdade sobre a dosagem a utilizar. Apresentamos a evolução da prevalência dos DTN até 2016 e a implementação da medida preventiva. Método: O Registo Nacional de Anomalias Congénitas é um registo nosológico de base populacional que visa a vigilância epidemiológica e a investigação das anomalias congénitas em Portugal, assim como fornecer informação sobre políticas de prevenção das anomalias. Calcularam-se taxas de prevalência dos DTN entre 2004 e 2016 utilizando como numerador os casos notificados em nados-vivos, fetos mortos e fetos resultantes de interrupção médica da gravidez após o diagnóstico de uma anomalia congénita grave. Resultados: Considerando todos os casos com anomalias congénitas enviados ao RENAC nos anos analisados, observa-se um aumento da frequência da toma de ácido fólico antes da gravidez (6,9%;18,1%) e uma redução da percentagem de mulheres que não utiliza esta medida preventiva (8,3%;4,8%). Porém a maior percentagem de mulheres inicia a toma de ácido fólico durante o 1º trimestre de gravidez. O diagnóstico dos DTN tem progressivamente aumentado na fase pré-natal com o apoio da ecografia obstétrica assim como a opção pela interrupção médica da gravidez. Conclusão: O potencial de prevenção primária dos DTN pela suplementação pré-concepcional de ácido fólico ainda está longe de ser cumprido em Portugal. A interrupção médica da gravidez, após o diagnóstico pré-natal de uma patologia grave, parece atuar como prevenção secundária dos DTN, ainda que associada a sentimentos de perda, dor e sofrimento, contribuindo também para a redução da natalidade. Persiste a necessidade de se desenvolverem políticas que promovam o uso de ácido fólico e a importância de uma gravidez planeada, junto das mulheres em idade fértil/ casais, mas também junto dos profissionais de saúde. info:eu-repo/semantics/publishedVersion

Abstrat publicado em: Gac Sanit. 2018;32(Espec Congr):321. disponível em: http://www.gacetasanitaria.org/es-pdf-X0213911118629759 Introdução: O diagnóstico pré-natal compreende uma variedade de procedimentos destinados a determinar o bem-estar fetal e identificar condições que possam aumentar o risco de desfecho negativo na gravidez. Esta medida preventiva permite i) o diagnóstico atempado de patologia para programar tratamento; ii) que os pais se prepararem para o nascimento de uma criança com anomalias; iii) dar a opção de continuar ou não com a gravidez. O objetivo deste estudo foi avaliar o impacto do DPN em Portugal nas gravidezes com anomalia congénita (AC). Métodos: Realizou-se um estudo transversal usando dados de casos notificados ao Registo Nacional de Anomalias Congénitas (RENAC). A análise foi restrita a AC que são potencialmente detetáveis na fase pré-natal e notificadas no período entre 1997 e 2016. O resultado de interesse foi o resultado da gravidez considerando-se as seguintes categorias: nado vivo, interrupção médica da gravidez (IMG) e óbito (incluindo morte fetal, nado-morto e óbito até 30 dias após o nascimento). O efeito do DPN sobre o desfecho (óbito versus nascimento vivo) foi estimado usando um modelo de regressão tendo como variável dependente o resultado da gestação e independentes o ano, a idade materna e a presença de múltiplas anomalias. Resultados: Análise efetuada com base em 13566 casos notificados ao RENAC com pelo menos uma AC. De entres estes, 73,3% eram nados vivos (n = 9626), 23,5% eram IMG (n = 3083) e 3,2% eram mortes fetais (n = 424). O DPN foi realizado em 56,1% (n = 7605) dos casos, sendo detetada uma AC antes das 14 semanas de gestação em 19,1% de todos os casos, seguida de 48,1% com diagnostico entre as 14 e as 23 semanas e 32,8% com 24 ou mais semanas de gestação. Ao comparar casos com DPN com casos sem DPN, a IMG foi a opção escolhida em 40,3% de todos os casos diagnosticados na fase pré-natal. Após ajustar para confundimento, o ano, a idade materna, a presença de múltiplas anomalias e ter realizado DPN foi associado a pior prognóstico e aumentou o risco de a gravidez terminar na morte fetal (OR=2.56; 95%CI=2.06-3.18). Conclusões: Observa-se uma relação estatisticamente significativa entre a proporção de interrupções médicas da gravidez após o diagnóstico pré-natal de AC graves. Resultados semelhantes foram relatados por outros autores e podem revelar que um mau prognóstico a longo prazo tem um impacto significativo na decisão dos pais. Devido ao impacto do diagnóstico pré-natal e ao aumento da taxa de IMG, a diminuição na prevalência de nados vivos afetados com AC grave pode ser observada em estudos futuros. info:eu-repo/semantics/publishedVersion

Poster publicado em: European Journal of Medical Genetics. 2018;61(9):571. https://doi.org/10.1016/j.ejmg.2018.06.071 BACKGROUND: Maternal exposure to environmental factors has been associated to the birth of a child with specific congenital anomalies (CA). The aiming of this study is to investigate the association between occupational exposure, maternal place of residence, workplace and leisure activities during pregnancy and CA METHODS: In 2016, an observational, case control study was developed and is still in progress. Cases are live births, identified in the maternity unit, with at least one CA and controls are the two births without anomaly following each case. Residents outside the study area, stillbirths and women who decline to participate or are incapable to give consent are excluded RESULTS: Were recruited to the study 116 live births (38 cases and 78 controls). The majority of cases reported living (68.4%) and spend leisure time (63.2%) in the industrial area. 57.7 of controls lives and 46.9% spend leisure time in same area. However no statistical differences were detected between them (p=0.195 for residency and p=0.175 for place of leisure). Cases work more frequently in Lisbon (21%) and residence area (15.8%) compared to controls (17.3% and 15.4% respectively) (p=0.057). A total of 44 CA were detected and the most frequently reported groups was the musculoskeletal system (34.1%) followed by CA of the ear and genital group (15.9% and 15.9 respectively). CONCLUSION: Due to the small sample size, no statistically significant difference was found between cases and controls. Reason why it is necessary to continue the study and obtain the collaboration of other hospitals in the same area. info:eu-repo/semantics/publishedVersion

Relatório de estágio de mestrado, Bioestatística, Universidade de Lisboa, Faculdade de Ciências, 2018 Submitted by Teresa Boa (tdboa@fc.ul.pt) on 2018-08-28T14:13:27Z No. of bitstreams: 1 ulfc124675_tm_Afonso_Rodrigues.pdf: 1543626 bytes, checksum: 22a860b359ed9adad1b7ecdd94d06784 (MD5) Made available in DSpace on 2018-08-28T14:13:38Z (GMT). No. of bitstreams: 1 ulfc124675_tm_Afonso_Rodrigues.pdf: 1543626 bytes, checksum: 22a860b359ed9adad1b7ecdd94d06784 (MD5) Previous issue date: 2018

Relatório do Registo Nacional de Anomalias Congénitas relativo ao período 2014-2015. O RENAC é um registo nosológico de base populacional que recebe notificações da ocorrência de Anomalias Congénitas (AC) em Portugal, sendo registados os casos com AC diagnosticadas em recém-nascidos, em fetos mortos e nos fetos submetidos a interrupção médica da gravidez. São objetivos do Registo i) fornecer informação essencial sobre a epidemiologia das AC em Portugal; ii) manter um sistema de vigilância que permita detetar novas exposições teratogénicas; iii) avaliar o impacto do diagnóstico pré-natal; iv) manter uma base de dados disponível para a investigação na área das AC acessível a profissionais de saúde e à comunidade cientifica; v) integrar a rede de registos europeus de AC. Do presente relatório destacam-se os seguintes resultados: As cardiopatias congénitas mantém-se o grupo de AC mais prevalente (86,5 casos/10.000 nascimentos) seguido do grupo das anomalias do sistema músculo-esquelético (45,0 casos/10.000 nascimentos). Também se evidenciam com prevalências elevadas, as anomalias cromossómicas e as AC do sistema urinário (cerca de 35 casos por 10.000 nascimentos para cada grupo); Cerca de 60% das AC foram detetadas na fase pré-natal, valor superior ao observado em anos anteriores, o que poderá estar relacionado com o trabalho desenvolvido pelos centros de diagnostico pré-natal e um maior acesso da grávida a estes centros; A percentagem de nascimentos em mulheres com idade igual ou superior a 40 anos, cerca de 9%, praticamente duplicou quando comparados os dados com os do relatório referente aos anos 2000 a 2010 (5,2%).

Introdução e objetivos: Na gravidez, a exposição a factores ambientais teratogénicos pode ser nociva no desenvolvimento fetal. Neste trabalho avaliou-se a exequibilidade de um estudo sobre exposição residencial e laboral da grávida a substâncias ambientais teratogénicas e o desenvolvimento de anomalias congénitas (AC), apresentando-se dados do estudo-piloto. Metodologia: Estudo epidemiológico observacional, do tipo caso-controlo, decorrido no CHBM em 2016. Exposição ambiental caracterizada (1) pela profissão materna e potencial contato profissional com substâncias teratogénicas e (2) localização geográfica da residência, emprego e zonas de lazer durante a gestação. Dados recolhidos em entrevista com questionário adaptado do formulário de notificação do RENAC. A análise descritiva avaliou a qualidade dos dados e % de valores omissos. Resultados: Amostra constituida por 78 notificações (26 casos, 52 controlos). A maioria dos casos residia na Moita (46%), e a maioria dos controlos no Barreiro (35%), seguindo-se o Montijo. A maioria tanto dos casos como dos controlos trabalhava em Lisboa, seguindo-se Barreiro, Moita e Montijo. Nos casos, o local preferencial de lazer foi a Moita (34,6%) e nos controlos o Barreiro (30%). As anomalias do sistema musculo-esquelético foram as mais reportadas (38,5%). Na avaliação da exequibilidade do estudo, a apreciação da equipa no campo mostrou adequação dos documentos de apoio e tempo de aplicação do questionário. A implementação do estudo foi considerada “fácil”, com taxa de participação 99%. A maior percentagem de valores omissos verificou-se nos controlos. Conclusões: Apesar destes resultados não terem ainda dimensão suficiente para extrapolar relações, este estudo demonstrou a exequibilidade do projeto e da sua continuação. N/A

Introdução: A microcefalia caracteriza-se por um perímetro cefálico muito menor que o esperado para indivíduos do mesmo sexo, idade e etnia. Os critérios de diagnóstico variam entre um perímetro cefálico inferior a 2 desvios padrão ou inferior a 3 desvios padrão da média (1). A etiologia pode estar associada a anomalias cromossómicas, à exposição a teratogénicos durante a gravidez ou a má nutrição grave mas, frequentemente, é desconhecida (2). A associação da microcefalia com a infeção pelo vírus Zika, enfatizou a necessidade de manter uma monitorização contínua das anomalias congénitas. Em Portugal esta monitorização é assegurada desde 1997 pelo Registo Nacional de Anomalias Congénitas – RENAC (3, 4). Este estudo tem como objetivo estimar a tendência anual da prevalência da microcefalia no âmbito da vigilância das anomalias congénitas. Materiais e Métodos: Foram utilizados dados do RENAC para o cálculo da prevalência da microcefalia, por 10000 nascimentos, sendo o numerador composto por recém-nascidos, fetos mortos e interrupções médicas de gravidez. Foi ajustado um modelo de regressão de Poisson ao número de casos de microcefalia de 1997-2015 (excluindo o período 2000-2009) em função do ano e total de nascimentos anual (5). No cálculo dos intervalos de confiança para a previsão do número e da prevalência de microcefalia, foi aplicado o método descrito por Dyba & Hakulinen (6). Resultados: A prevalência variou entre 0,17/10000 e 1,93/10 000. Em 2016, até Novembro, foram notificados 10 casos de microcefalia. Nas notificações recebidas entre 2010 e 2016 (n=68), 11,76% tinham uma etiologia cromossómica, 5,88% tinham exposição a fatores teratogénicos, 2,94% tinham uma síndrome genética e 79,41% não tinham etiologia conhecida. Com base no modelo estatístico utilizado e assumindo o mesmo número de nascimentos do ano 2015, estima-se que a prevalência de microcefalia em 2016 seja 1,13/10000 nascimentos [IC95% 0,15/10000 – 2,11/10000] estimando-se a notificação de 10 casos [IC95% 2 - 18]. Discussão e Conclusão: As diferenças observadas nos valores da prevalência ao longo dos anos podem depender da subnotificação de casos ao RENAC (3,4) ou da não notificação da microcefalia na presença de anomalias cromossómicas. Os dados do RENAC ao permitirem a determinação de um valor esperado para a prevalência da microcefalia possibilitam a motorização destes casos. Enquanto sistema de vigilância também permite detectar um aumento acentuado da prevalência e identificar fatores associados. info:eu-repo/semantics/draft

Objectives: Microcephaly is a congenital anomaly where the baby’s head is smaller than expected when compared with babies of the same sex, age and ethnicity. Many of these babies will have underdeveloped brains. This study aimed to provide contemporary estimates of the prevalence of microcephaly in Europe, determine if the diagnosis of microcephaly is consistent across Europe and to evaluate whether changes in prevalence would be detected using the current European surveillance performed by EUROCAT (the European Surveillance of Congenital Anomalies). Design: A questionnaire and a population-based, observational study Setting: 24 EUROCAT registries covering 570,000 births annually in 15 countries. Participants: 2443 cases of microcephaly not associated with a genetic condition, among live births, fetal deaths from 20 weeks gestational age and terminations of pregnancy for fetal anomaly at any gestation. Main Outcome Measures: Prevalence of microcephaly (1st Jan 2003- 31st Dec 2012) analysed using random effects Poisson regression models to account for heterogeneity across registries. Results: Sixteen registries responded to the questionnaire of whom 44% (7/16) used the EUROCAT definition of microcephaly (a reduction in the size of the brain with a skull circumference more than 3 standard deviations (SD) below the mean for sex, age and ethnic origin), 19% (3/16) used a 2 SD cut-off, 31% (5/16) were reliant on the criteria used by individual clinicians and one registry changed criteria between 2003 and 2012. Prevalence of microcephaly in Europe was 1.53 (95% CI : 1.16-1.96) per 10,000 births with registries varying from 0.4 (95% CI : 0.2-0.7) to 4.3 (95% CI : 3.8-4.8) per 10,000 (Chi-squared =338 with 23 degrees of freedom, I2 = 93%). Registries with the 3 SD cut-off reported a prevalence of 1.74 per 10,000 (95% CI: 0.86-2.93) compared with those with the less stringent 2 SD cut-off of 1.21 per 10,000 (95% CI: 0.21-2.93). The prevalence of microcephaly would need to increase in 1 year by over 35% in Europe or by over 300% in a single registry to reach statistical significance (pConclusions: EUROCAT could detect increases in the prevalence of microcephaly due to the Zika virus of a similar magnitude to those observed in Brazil. However, due to the rarity of microcephaly and discrepant diagnostic criteria, the smaller increases expected in Europe would be unlikely to be detected. Clear diagnostic criteria for microcephaly must be adopted across Europe.

El propósito de este comentario es dar a conocer los objetivos ampliados del sistema de vigilancia RENAC, que, en 2015, fue rebautizado y se transformó de “Registro” en “Red Nacional de Anomalías Congénitas”. Si bien, desde el comienzo, el sistema tuvo un diseño de red, con el paso del tiempo, advertimos la importancia de mejorar los medios de comunicación y de incorporar nuevos actores. A partir del año 2010, se implementó un sistema de foros on line, un tipo de tecnología de comunicación asincrónica participativa, que hace posible personalizar los mensajes y acortar las distancias. Por este medio, los profesionales de las maternidades envían la información, y la coordinación puede realizar reparos y orientar sobre el diagnóstico inicial de los afectados. Fil: Groisman, Boris. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina Fil: Bidondo, Maria Paz. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina Fil: Barbero, Pablo Miguel. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina Fil: Liascovich, Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina

Background: In Portugal folic acid supplementation is recommended to start at least 2-3 months before conception for primary prevention of Neural Tube Defects. The aim of this study was to evaluate, within gestations with at least one congenital anomaly, possible association between maternal socio-demographic factors and the use of folic acid. Methods: Using data from the Portuguese national registry of congenital anomalies, for the 2004-2013 period, the association between folic acid use during pregnancy and maternal characteristics was studied using the chi-square test. Results: Considering all reported cases with congenital anomaly, the use of folic acid before conception was reported by 12.7% (n = 1233) of the women; 47.8% (n = 4623) started supplementation during the 1st trimester, 7% (n = 680) did not take folic acid and 32.5% (3143) of the records had no information on folic acid use. Women with professions that require higher academic differentiation started the use of supplements before pregnancy (p

Background: Maternal occupation as a proxy of environmental exposure has been consistently associated with specific congenital anomalies (CA) in the foetus and newborn. On the other hand, geographical location of the mother such as place of residence and place of work have not been used as proxy for environmental exposures during pregnancy. We designed a pilot study aiming to investigate the association between maternal place of residence and workplace during pregnancy and CA in Portugal. Methods: Cases and controls are identified in the maternity unit. Cases are all live births with at least one CA delivered in the Barreiro hospital located in a heavy industrial area near Lisboa. Controls are the two normal births following each case. Residents outside the study area, stillbirths and women who decline to participate or are incapable of giving consent are excluded. A health professional interviews the mothers using a questionnaire adapted from the registry form of the Portuguese national registry of CA and includes information on places during pregnancy (residence, workplace, leisure), and demographic characterization as place of birth, infant sex, weight, description of CA, age of mother, ethnicity, maternal birth place. Maternal health and obstetric history, education, smoking, alcohol, drugs and medication use is also collected as potential confounders. Results: The pilot study started in January 2016 and at the moment two cases and four controls have been recruited without refusals. The study will continue to be implemented and it is proposed to start in other hospital units during 2016.

In Portugal, prenatal care guidelines advocate two prenatal ultrasound scans for all pregnant women. Not following this recommendation is considered inadequate prenatal surveillance. The National Registry of Congenital Anomalies (RENAC in Portuguese) is an active population-based registry and an important instrument for the epidemiological surveillance of congenital anomalies (CA) in Portugal. Regarding pregnancies with CA, this study aims to describe the epidemiology of absent prenatal ultrasound scans and factors associated with this inadequate surveillance.

The European Surveillance of Congenital Anomalies (EUROCAT) network of population-based congenital anomaly registries is an important source of epidemiologic information on congenital anomalies in Europe covering live births, fetal deaths from 20 weeks gestation, and terminations of pregnancy for fetal anomaly. EUROCAT's policy is to strive for high-quality data, while ensuring consistency and transparency across all member registries. A set of 30 data quality indicators (DQIs) was developed to assess five key elements of data quality: completeness of case ascertainment, accuracy of diagnosis, completeness of information on EUROCAT variables, timeliness of data transmission, and availability of population denominator information. This article describes each of the individual DQIs and presents the output for each registry as well as the EUROCAT (unweighted) average, for 29 full member registries for 2004-2008. This information is also available on the EUROCAT website for previous years. The EUROCAT DQIs allow registries to evaluate their performance in relation to other registries and allows appropriate interpretations to be made of the data collected. The DQIs provide direction for improving data collection and ascertainment, and they allow annual assessment for monitoring continuous improvement. The DQI are constantly reviewed and refined to best document registry procedures and processes regarding data collection, to ensure appropriateness of DQI, and to ensure transparency so that the data collected can make a substantial and useful contribution to epidemiologic research on congenital anomalies. Birth Defects Research (Part A) 91: S23-S30, 2011. (C) 2011 Wiley-Liss, Inc.

OBJECTIVE The purpose of this article is to present the specific public health indicators recently developed by EUROCAT that aim to summarize important aspects of the public health impact of congenital anomalies in a few quantitative measures. METHODS The six indicators are: (1) congenital anomaly perinatal mortality, (2) congenital anomaly prenatal diagnosis prevalence, (3) congenital anomaly termination of pregnancy, (4) Down syndrome livebirth prevalence, (5) congenital anomaly pediatric surgery, and (6) neural tube defects (NTD) total prevalence. Data presented for this report pertained to all cases (livebirths, fetal deaths, or stillbirths after 20 weeks of gestation and terminations of pregnancy for fetal anomaly [TOPFA]) of congenital anomaly from 27 full member registries of EUROCAT that could provide data for at least 3 years during the period 2004 to 2008. Prevalence of anomalies, prenatal diagnosis, TOPFA, pediatric surgery, and perinatal mortality were calculated per 1000 births. RESULTS The overall perinatal mortality was approximately 1.0 per 1000 births for EUROCAT registries with almost half due to fetal and the other half due to first week deaths. There were wide variations in perinatal mortality across the registries with the highest rates observed in Dublin and Malta, registries in countries where TOPFA are illegal, and in Ukraine. The overall perinatal mortality across EUROCAT registries slightly decreased between 2004 and 2008 due to a decrease in first week deaths. The prevalence of TOPFA was fairly stable at about 4 per 1000 births. There were variations in livebirth prevalence of cases typically requiring surgery across the registries; however, for most registries this prevalence was between 3 and 5 per 1000 births. Prevalence of NTD decreased by about 10% from 1.05 in 2004 to 0.94 per 1000 in 2008. CONCLUSION It is hoped that by publishing the data on EUROCAT indicators, the public health importance of congenital anomalies can be clearly summarized to policy makers, the need for accurate data from registries emphasized, the need for primary prevention and treatment services highlighted, and the impact of current services measured. Birth Defects Research (Part A), 2011.© 2011 Wiley-Liss, Inc.

publicado em: European Journal of Medical Genetics. 2018;61(9):572. https://doi.org/10.1016/j.ejmg.2018.06.071 BACKGROUND: The Portuguese prenatal surveillance programme advise ultrasound screenings, in the first trimester of pregnancy in combination with the blood test, and between 20 - 22 weeks of pregnancy. Other tests are offered in pregnancies with an increased risk. The aim of this study is to assess the evolution of prenatal diagnosis in the detection of congenital anomalies (CA). METHODS: A cross sectional study was implemented using data collected between 1997 - 2016 by the Portuguese registry of CA (RENAC) a population base registry that follow EUROCAT guidelines. A case was defined with at least one CA potentially detectible by prenatal diagnosis. Descriptive analysis was performed using absolute and relative frequencies and bivariate analysis was conducted using chi-square statistics. RESULTS: The analysis included 13566 cases reported with at least one CA. There was an statistically significant increase in the detection of CA through prenatal diagnosis compared to detection at birth or after birth (p

[PT] Os dados do RENAC mostram que 2,3% das mulheres com suspeita de anomalia fetal durante a gravidez, entre 2008 e 2010 e 3,5% entre 2011 e 2013 recusaram a realização de exames invasivos. Este estudo pretende caracterizar estas mulheres tendo-se encontrado na literatura alguns fatores maternos relacionados com esta decisão. Assim, realizou-se um estudo descritivo, transversal, com utilização de dados notificados ao RENAC no período de 2008 a 2013. Neste período 7,7% das grávidas recusaram a realização de exames invasivos. Estas mulheres tinham em média 37,3 anos (mín-máx: 18-48, desvio padrão= 5,37), 16,2% não tinham nacionalidade portuguesa e 30,8% não exerciam uma atividade profissional. A história obstétrica revelou que em mediana tiveram duas gestações e dois nados-vivos anteriores. Em 5,5% a presente gestação resultou de reprodução medicamente assistida. Observou-se a existência de associação estatisticamente significativa com o grupo etário da grávida, a naturalidade, a ocupação, a etnia, o estado migratório, a história obstétrica e o consumo de álcool durante o 1º trimestre de gestação. Estes resultados são semelhantes aos descritos noutros estudos, nomeadamente, o facto de pertencerem a um grupo etário mais avançado e a minorias étnicas, para além de serem multíparas aumentar a probabilidade de recusarem um exame invasivo. [EN] Data from the Por tuguese Registr y of Congenital Anomalies (RENAC) show that between 2008 and 2010, 2.3% of women with suspected fetal anomaly during pregnancy, and 3.5% between 2011 and 2013 refused to per form invasive tests. This study aims to characterize these women since the literature indicates that maternal factors are related to these decisions. A descriptive, cross-sectional study, was per formed using data repor ted to RENAC between 2008-2013. 7,7% of the pregnant women refused to perform invasive tests. These women had an average of 37.3 years (Min-Max: 18-48, standard deviation = 5.37), 16.2% were not portuguese and 30.8% had no professional activity. The obstetric history revealed that, on average had two previous pregnancies and two previous live births. In 5.5% of the cases, this pregnancy was a result of medically assisted reproduction. Statistically significant association was found between refusal and: age group of the pregnant; the nationality; the occupation; ethnicity; the migratory status; the obstetric history and alcohol consumption during the first trimester of pregnancy. These results are similar to those described in other studies in particular belonging to a more advanced age group, having previous gestations and belonging to ethnic minorities may increase de odd of refusing invasive tests.

Comment in: Mills JL, Dimopoulos A. Folic acid fortification for Europe? BMJ. 2015 Nov 24;351:h6198. doi: 10.1136/bmj.h6198. Study question: What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist? Methods: This was a population based, observational study using data on 11 353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries between 1991 and 2011. The main outcome measures were total and live birth prevalence of NTD, as well as anencephaly and spina bifida, with time trends analysed using random effects Poisson regression models to account for heterogeneities across registries and splines to model non-linear time trends. Summary answer and limitations: Overall, the pooled total prevalence of NTD during the study period was 9.1 per 10 000 births. Prevalence of NTD fluctuated slightly but without an obvious downward trend, with the final estimate of the pooled total prevalence of NTD in 2011 similar to that in 1991. Estimates from Poisson models that took registry heterogeneities into account showed an annual increase of 4% (prevalence ratio 1.04, 95% confidence interval 1.01 to 1.07) in 1995-99 and a decrease of 3% per year in 1999-2003 (0.97, 0.95 to 0.99), with stable rates thereafter. The trend patterns for anencephaly and spina bifida were similar, but neither anomaly decreased substantially over time. The live birth prevalence of NTD generally decreased, especially for anencephaly. Registration problems or other data artefacts cannot be excluded as a partial explanation of the observed trends (or lack thereof) in the prevalence of NTD. What this study adds: In the absence of mandatory fortification, the prevalence of NTD has not decreased in Europe despite longstanding recommendations aimed at promoting peri-conceptional folic acid supplementation and existence of voluntary folic acid fortification. The study was funded by the European Public Health Commission, EUROCAT Joint Action 2011-2013. HD and ML received support from the European Commission DG Sanco during the conduct of this study.

Background: Congenital anomalies (CA) can be defined as structural or functional anomalies that occur during pregnancy and can be identified prenatally, at birth or later in life. In Portugal, since 1997 the Nacional Registry of Congenital Anomalies (RENAC), a population-based registry, is a strategic instrument in surveillance and improve knowledge in this field. The aim of this study is to investigate for the period 2000-2010, the relationship between maternal age, young or advanced and the risk of structural congenital anomalies.

Resumo do poster publicado em: Gac Sanit. 2015;29 (Supl):109. Disponível em: http://www.gacetasanitaria.org/es/vol-29-num-s/suplemento/congresos/X0213911115X24386/#II CONGRESO IBEROAMERICANO DE EPIDEMIOLOGÍA Y SALUD PÚBLICA Introdução: Os defeitos do tubo neural (DTN) são anomalias congénitas que ocorrem devido ao deficiente encerramento do tubo neural que deve estar concluído até ao 28º dia de vida. Estudos internacionais mostram que a utilização do ácido fólico previne cerca de 70% dos DTN, quando administrado antes da gravidez até ao fim do primeiro trimestre. Em Portugal é recomendado o uso pre-concepcional do ácido fólico desde 1998 A literatura mostra que características maternas como a idade e a escolaridade têm influência na utilização pre-concepcional de ácido fólico. É objetivo deste estudo avaliar a utilização de ácido fólico na prevenção primária dos DTN, para os anos de 2004 a 2013.

Documento distribuído na reunião. O Registo Nacional de Anomalias Congénitas – RENAC é um registo nosológico de base populacional, que recebe notificações de casos de anomalias congénitas major diagnosticadas em recém-nascidos vivos,em fetos mortos e nos fetos submetidos a interrupção médica da gravidez.A presente análise do RENAC abrange um período de 11 anos compreendido entre 2000 e 2010.

As anomalias congénitas (AC) são erros do desenvolvimento, presentes no período embriofetal que se manifestam por alterações estruturais, funcionais ou bioquímicas detectadas ao nascer ou mais tardiamente. Embora, as anomalias congénitas (AC) não sejam doenças de notificação obrigatória, a Direção-Geral da Saúde recomenda a sua notificação. O Registo Nacional de Anomalias Congénitas (RENAC) recebe notificações de anomalias observadas em recém-nascidos, fetos mortos e interrupções médicas da gravidez. Um dos seus objetivos é determinar a prevalência das anomalias congénitas em Portugal e caracterizar a sua distribuição geográfica.