Browsing by Author "Cavero-Carbonell, Clara"
Now showing 1 - 9 of 9
Results Per Page
Sort Options
- Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT studyPublication . Morris, Joan K.; Wellesley, Diana G.; Barisic, Ingeborg; Addor, Marie-Claude; Bergman, Jorieke E.H.; Braz, Paula; Cavero-Carbonell, Clara; Draper, Elizabeth S.; Gatt, Miriam; Haeusler, Martin; Klungsoyr, Kari; Kurinczuk, Jennifer J.; Lelong, Natalie; Luyt, Karen; Lynch, Catherine; O’Mahony, Mary T.; Mokoroa, Olatz; Nelen, Vera; Neville, Amanda J.; Pierini, Anna; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David F.; Verellen-Dumoulin, Christine; Wiesel, Awi; Zymak-Zakutnia, Natalia; Lanzoni, Monica; Garne, EsterObjectives: To describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe. Design and setting: Congenital 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). Participants: All 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 measures: Prevalence, proportion of associated non-cerebral anomalies, prenatal detection rate. Results: 4927 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). Conclusions: Only 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.
- Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry StudyPublication . Santoro, Michele; Coi, Alessio; Barišić, Ingeborg; Garne, Ester; Addor, Marie-Claude; Bergman, Jorieke E.H.; Bianchi, Fabrizio; Boban, Ljubica; Braz, Paula; Cavero-Carbonell, Clara; Gatt, Miriam; Haeusler, Martin; Kinsner-Ovaskainen, Agnieszka; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Lelong, Nathalie; Luyt, Karen; Materna-Kiryluk, Anna; Mokoroa, Olatz; Mullaney, Carmel; Nelen, Vera; Neville, Amanda Julie; O’Mahony, Mary T.; Perthus, Isabelle; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Yevtushok, Lyubov; Pierini, AnnaBackground: 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.
- Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – a EUROCAT studyPublication . Garne, Ester; Rissmann, Anke; Addor, Marie-Claude; Barisic, Ingeborg; Bergman, Jorieke; Braz, Paula; Cavero-Carbonell, Clara; Draper, Elisabeth; Gatt, Miriam; Haeusler, Martin; Klungsoyr, Kari; Kurinczuk, Jennifer; Lelong, Nathalie; Luyt, Karen; Lynch, Babak; O’Mahony, Mary; Mokoroaq, Olatz; Nelenr, Vera; Nevilles, Amanda J.; Pierinit, Anna; Randrianaivou, Hanitra; Rankinv, Judith; Rougetw, Florence; Schaubx, Bruno; Tuckery, David; Verellen-Dumoulinz, Christine; Wellesleyaa, Diana; Wieselab, Awi; Zymak-Zakutniaac, Nataliia; Lanzoniad, Monica,; Morrisae, Joan K.Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6.4 million births. There were 99 cases with a diagnosis of septo-optic dysplasia. The prevalence of septo-optic dysplasia in Europe was calculated to lie between 1.9 and 2.5 per 100,000 births after adjusting for potential under-reporting in some registries. The prevalence was highest in babies of mothers aged 20-24 years of age and was significantly higher in UK registries compared with other EUROCAT registries (P = 0.021 in the multilevel model) and the additional risk for younger mothers was significantly greater in the UK compared to the rest of Europe (P = 0.027). The majority of septo-optic dysplasia cases were classified as an isolated cerebral anomaly (N = 76, 77%). Forty percent of diagnoses occurred in fetuses with a prenatal diagnosis. The anomaly may not be visible at birth, which is reflected in that 57% of the postnatal diagnoses occurred over 1 month after birth. This is the first population based study to describe the prevalence of septo-optic dysplasia in Europe. Septo-optic dysplasia shares epidemiological patterns with gastroschisis and this strengthens the hypothesis of vascular disruption being an aetiological factor for septo-optic dysplasia.
- Ethics and legal requirements for data linkage in 14 European countries for children with congenital anomaliesPublication . Claridge, Hugh; Tan, Joachim; Loane, Maria; Garne, Ester; Barisic, Ingeborg; Cavero-Carbonell, Clara; Matias Dias, Carlos; Gatt, Miriam; Jordan, Susan; Khoshnood, Babak; Kiuru-Kuhlefelt, Sonja; Klungsoyr, Kari; Mokoroa Carollo, Olatz; Nelen, Vera; Neville, Amanda J.; Pierini, Anna; Randrianaivo, Hanitra; Rissmann, Anke; Tucker, David; de Walle, Hermien; Wertelecki, Wladimir; Morris, Joan K.Introduction: Linking healthcare data sets can create valuable resources for research, particularly when investigating rare exposures or outcomes. However, across Europe, the permissions processes required to access data can be complex. This paper documents the processes required by the EUROlinkCAT study investigators to research the health and survival of children with congenital anomalies in Europe. Methods: Eighteen congenital anomaly registries in 14 countries provided information on all the permissions required to perform surveillance of congenital anomalies and to link their data on live births with available vital statistics and healthcare databases for research. Small number restrictions imposed by data providers were also documented. Results: The permissions requirements varied substantially, with certain registries able to conduct congenital anomaly surveillance as part of national or regional healthcare provision, while others were required to obtain ethics approvals or informed consent. Data linkage and analysis for research purposes added additional layers of complexity for registries, with some required to obtain several permissions, including ethics approvals to link the data. Restrictions relating to small numbers often resulted in a registry's data on specific congenital anomalies being unusable. Conclusion: The permissions required to obtain and link data on children with congenital anomalies varied greatly across Europe. The variation and complexity present a significant obstacle to the use of such data, especially in large data linkage projects. Furthermore, small number restrictions severely limited the research that could be performed for children with specific rare congenital anomalies.
- Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, or Spina Bifida Using ConnectEpeople: A Social Media Coproduction Research StudyPublication . Sinclair, Marlene; McCullough, Julie E.M.; Elliott, David; Latos-Bielenska, Anna; Braz, Paula; Cavero-Carbonell, Clara; Jamry-Dziurla, Anna; João Santos, Ana; Páramo-Rodríguez, LucíaBackground: 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.
- Information needs of parents of children with congenital anomalies across Europe: a EUROlinkCAT surveyPublication . Marcus, Elena; Latos-Bielenska, Anna; Jamry-Dziurla, Anna; Barišić, Ingeborg; Cavero-Carbonell, Clara; Den Hond, Elly; Garne, Ester; Genard, Lucas; Santos, Ana João; Lutke, LRenée; Matias Dias, Carlos; Neergaard Pedersen, Christina; Neville, Amanda J.; Niemann, Annika; Odak, Ljubica; Pierini, Anna; Rico, Juan; Rissmann, Anke; Rankin, Judith; Morris, Joan K.Background: Parents of children who have a congenital anomaly can experience significant worry about their child's health. Access to clear, helpful, and trustworthy information can provide a valuable source of support. In this study the aim was to explore the information needs of parents/carers of children with congenital anomalies across Europe. Method: A cross-sectional online survey was developed in nine languages to measure parents' information needs, including: (1) the 'helpfulness'/'trustworthiness' of information received from eight relevant sources, and (2) overall satisfaction with information received. Parents/carers of children (0-10 years) with cleft lip, spina bifida, congenital heart defect [CHD] requiring surgery, and/or Down syndrome were recruited online via relevant organisations in 10 European countries from March-July 2021. Quantitative analyses using multivariable logistic regressions were performed. Results: One thousand seventy parents/carers of children with a cleft lip (n = 247), spina bifida (n = 118), CHD (n = 366), Down syndrome (n = 281), and Down syndrome with CHD (n = 58) were recruited in Poland (n = 476), the UK (n = 120), Germany (n = 97), the Netherlands/Belgium (n = 74), Croatia (n = 68), Italy (n = 59), other European countries (n = 92), and not specified/non-European countries (n = 84). Most participants were mothers (92%) and aged 31-40 years (71%). Participants were most likely to rate support groups (63%), patient organisations (60%), specialist doctors/nurses (58%), and social media (57%) as 'very helpful' information sources. 'Very trustworthy' ratings remained high for specialist doctors/nurses (61%), however, they declined for support groups (47%), patient organisations (48%), and social media (35%). Germany had the highest proportion of participants who were 'very satisfied' (44%, 95% CI = 34%-54%) with information, whereas this percentage was lowest in Croatia (11%, 95% CI = 3%-19%) and Poland (15%, 95% CI = 11%-18%). Parents of children with Down syndrome had significantly lower satisfaction ratings than parents of children with CHD; 13% (95% CI = 8%-18%) reported being 'very satisfied' compared to 28% (95% CI = 23%-33%) in the CHD group. Conclusions: Findings suggest that informal sources of information (e.g. support groups) are of value to parents, however, they are not deemed as trustworthy as specialist medical sources. Satisfaction ratings differed across countries and by anomaly, and were particularly low in Croatia and Poland, as well as for parents of children with Down syndrome, which warrants further investigation.
- Prevention of Neural Tube Defects in Europe: A Public Health FailurePublication . Morris, Joan K.; Addor, Marie-Claude; Ballardini, Elisa; Barisic, Ingeborg; Barrachina-Bonet, Laia; Braz, Paula; Cavero-Carbonell, Clara; Den Hond, Elly; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Lelong, Nathalie; Kinsner-Ovaskainen, Agnieszka; Kiuru-Kuhlefelt, Sonja; Klungsoyr, Kari; Latos-Bielenska, Anna; Limb, Elizabeth; O'Mahony, Mary T.; Perthus, Isabelle; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Gerardine; Sipek, Antonin; Stevens, Sarah; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien E.K.; Wellesley, Diana; Wertelecki, Wladimir; Bermejo-Sanchez, EvaObjective: 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.
- Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based studyPublication . van de Putte, Romy; van Rooij, Iris A.L.M.; Marcelis, Carlo L.M.; Guo, Michel; Brunner, Han G.; Addor, Marie-Claude; Cavero-Carbonell, Clara; Dias, Carlos M.; Draper, Elizabeth S.; Etxebarriarteun, Larraitz; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Kurinczuk, Jenny J.; Lanzoni, Monica; Latos-Bielenska, Anna; Luyt, Karen; O’Mahony, Mary T.; Miller, Nicola; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J.; Perthus, Isabelle; Pierini, Anna; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Wiesel, Awi; Zymak-Zakutnia, Natalya; Loane, Maria; Barisic, Ingeborg; de Walle, Hermien E.K.; Roeleveld, Nel; Bergman, Jorieke E.H.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.
- Surveillance of multiple congenital anomalies; searching for new associationsPublication . Morris, Joan K.; Bergman, Jorieke E.H.; Barisic, Ingeborg; Wellesley, Diana; Tucker, David; Limb, Elizabeth; Addor, Marie-Claude; Cavero-Carbonell, Clara; Matias Dias, Carlos; Draper, Elisabeth S.; Echevarría-González-de-Garibay, Luis Javier; Gatt, Miriam; Klungsøyr, Kari; Lelong, Nathalie; Luyt, Karen; Materna-Kiryluk, Anna; Nelen, Vera; Neville, Amanda; Perthus, Isabelle; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Geraldine; Wertelecki, Wladimir; Kinsner-Ovaskainen, Agnieszka; Garne, EsterMany human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve the detection of teratogens. Thirty-two EUROCAT congenital anomaly registries covering 6,599,765 births provided 123,566 cases with one or more major congenital anomalies (excluding chromosomal and genetic syndromes) for the birth years 2008–2016. The EUROCAT multiple congenital anomaly algorithm identified 8804 cases with two or more major congenital anomalies in different organ systems, that were not recognized as part of a syndrome or sequence. For each pair of anomalies, the odds of a case having both anomalies relative to having only one anomaly was calculated and the p value was estimated using a two-sided Fisher’s exact test. The Benjamini–Hochberg procedure adjusted p values to control the false discovery rate and pairs of anomalies with adjusted p values < 0.05 were identified. A total of 1386 combinations of two anomalies were analyzed. Out of the 31 statistically significant positive associations identified, 20 were found to be known associations or sequences already described in the literature and 11 were considered “potential new associations” by the EUROCAT Coding and Classification Committee. After a review of the literature and a detailed examination of the individual cases with the anomaly pairs, six pairs remained classified as new associations. In summary, systematically searching for congenital anomalies occurring together more frequently than expected using the EUROCAT database is worthwhile and has identified six new associations that merit further investigation.