• Amniotic band syndrome and limb body wall complex in Europe 1980–2019 

      Bergman, Jorieke E. H.; Barišić, Ingeborg; Addor, Marie-Claude; Braz, Paula; Cavero-Carbonell, Clara; Draper, Elizabeth S.; Echevarría-González-de-Garibay, Luis J.; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Latos-Bielenska, Anna; Luyt, Karen; Martin, Danielle; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary T.; Perthus, Isabelle; Pierini, Anna; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Gerardine; Schaub, Bruno; Stevens, Sarah; Tucker, David; Verellen-Dumoulin, Christine; Wiesel, Awi; Gerkes, Erica H.; Perraud, Annie; Loane, Maria A.; Wellesley, Diana; de Walle, Hermien E. K. (Journal article; Peer reviewed, 2022)
      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 ...
    • The burden of disease for children born alive with Turner syndrome—A European cohort study 

      Andersen, Ann-Louise Rud; Urhoj, Stine Kjaer; Tan, Joachim; Cavero-Carbonell, Clara; Gatt, Miriam; Gissler, Mika; Klungsøyr, Kari; Khoshnood, Babak; Morris, Joan; Neville, Amanda J.; Pierini, Anna; Scanlon, Ieuan; de Walle, Hermien E. K.; Wellesley, Diana; Garne, Ester; Loane, Maria (Journal article; Peer reviewed, 2023)
      Background Turner syndrome is a rare congenital anomaly caused by complete or partial X chromosome monosomy that may affect mortality and morbidity in childhood. Methods This population-based data-linkage cohort study, ...
    • Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study 

      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; Klungsøyr, 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, Ester (Peer reviewed; Journal article, 2019)
      Objectives: 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, ...
    • Epidemiology of Dandy-Walker malformation in Europe: A EUROCAT population-based registry study 

      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, Anna (Peer reviewed; Journal article, 2019)
      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 ...
    • Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study 

      Santoro, Michele; Coi, Alessio; Barišić, Ingeborg; Pierini, Anna; Addor, Marie-Claude; Baldacci, Silvia; Ballardini, Elisa; Boban, Ljubica; Braz, Paula; Cavero-Carbonell, Clara; de Walle, Hermien E.K.; Draper, Elizabeth S.; Gatt, Miriam; Haeusler, Martin; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Materna-Kiryluk, Anna; Lanzoni, Monica; Lelong, Nathalie; Luyt, Karen; Mokoroa, Olatz; Mullaney, Carmel; Nelen, Vera; O'Mahony, Mary T.; Perthus, Isabelle; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Zymak-Zakutnia, Nataliia; Garne, Ester (Journal article; Peer reviewed, 2021)
      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 ...
    • Ethics and legal requirements for data linkage in 14 European countries for children with congenital anomalies 

      Claridge, Hugh; Tan, Joachim; Loane, Maria; Garne, Ester; Barisic, Ingeborg; Cavero-Carbonell, Clara; Dias, Carlos; Gatt, Miriam; Jordan, Susan; Khoshnood, Babak; Kiuru-Kuhlefelt, Sonja; Klungsøyr, 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. (Journal article; Peer reviewed, 2023)
      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 ...
    • Linking a European cohort of children born with congenital anomalies to vital statistics and mortality records: A EUROlinkCAT study 

      Loane, Maria; Given, Joanne E.; Tan, J.; Reid, A.; Akhmedzhanova, D.; Astolfi, G.; Barisic, Ingeborg; Bertille, N.; Bonet, L.B.; Cavero-Carbonell, Clara; Carollo, O. Mokoroa; Coi, Alessio; Densem, J.; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Glinianaia, S.V.; Heino, Anna; Hond, E. Den; Jordan, Sue; Khoshnood, Babak; Kiuru-Kuhlefelt, S.; Klungsøyr, Kari; Lelong, Nathalie; Lutke, L.R.; Neville, Amanda J.; Ostapchuk, L.; Puccini, Aurora; Rissmann, Anke; Santoro, Michele; Scanlon, I.; Thys, G.; Tucker, David; Urhoj, Stine Kjaer; De Walle, H. E. K.; Wellesley, Diana; Zurriaga, O.; Morris, Joan K. (Journal article; Peer reviewed, 2021)
      EUROCAT is a European network of population-based congenital anomaly (CA) registries. Twenty-one registries agreed to participate in the EUROlinkCAT study to determine if reliable information on the survival of children ...
    • Maternal age and the prevalence of congenital heart defects in Europe, 1995–2015: A register-based study 

      Mamasoula, Chrysovalanto; Bigirumurame, Theophile; Chadwick, Thomas; Addor, Marie-Claude; Cavero-Carbonell, Clara; Dias, Carlos M.; Echevarría-González-de-Garibay, Luis-Javier; Gatt, Miriam; Khoshnood, Babak; Klungsøyr, Kari; Randall, Kay; Stoianova, Sylvia; Haeusler, Martin; Nelen, Vera; Neville, Amanda J.; Perthus, Isabelle (Journal article; Peer reviewed, 2023)
      Background Evidence on the direction and strength of association between maternal age and the prevalence of congenital heart defects (CHD) in different age group categories is conflicting. Some studies have illustrated ...
    • Maternal risk factors for the VACTERL association: A EUROCAT case-control study 

      van de Putte, Romy; van Rooij, Iris A.L.M.; Haanappel, Cynthia P.; Marcelis, Carlo L.M.; Brunner, Han G.; Addor, Marie-Claude; Cavero-Carbonell, Clara; Dias, Carlos Matias; Draper, Elizabeth S.; Etxebarriarteun, Larraitz; Gatt, Miriam; Khoshnood, Babak; Kinsner-Ovaskainen, Agnieszka; Klungsøyr, Kari; Kurinczuk, Jenny J.; 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.; Bergman, Jorieke E. H.; Roeleveld, Nel (Journal article; Peer reviewed, 2020)
      Background The VACTERL association (VACTERL) is the nonrandom occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Despite suggestions for ...
    • Multilevel analyses of related public health indicators: The European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators 

      Best, Kate E.; Rankin, Judith; Dolk, Helen; Loane, Maria; Haeusler, Martin; Nelen, Vera; Verellen-Dumoulin, Christine; Garne, Ester; Sayers, Gerardine; Mullaney, Carmel; O'Mahony, Mary; Gatt, Miriam; de Walle, Hermien; Klungsøyr, Kari; Mokoroa, Olatz; Cavero-Carbonell, Clara; Kurinczuk, Jennifer J.; Draper, Elizabeth S.; Tucker, David; Wellesley, Diana; Zymak-Zakutnia, Natalya; Lelong, Nathalie; Khoshnood, Babak (Journal article; Peer reviewed, 2020)
      Background Public health organisations use public health indicators to guide health policy. Joint analysis of multiple public health indicators can provide a more comprehensive understanding of what they are intended to ...
    • Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries 

      Morris, Joan K.; Wellesley, Diana; Limb, Elizabeth; Bergman, Jorieke E. H.; Kinsner-Ovaskainen, Agnieszka; Addor, Marie Claude; Brougham, Jennifer M.; Cavero-Carbonell, Clara; Dias, Carlos M.; Echevarría-González-de-Garibay, Luis-Javier; Gatt, Miriam; Haeusler, Martin; Barisic, Ingeborg; Klungsøyr, Kari; Lelong, Nathalie; Materna-Kiryluk, Anna; Neville, Amanda; Nelen, Vera; O'Mahony, Mary T.; Perthus, Isabelle; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Geraldine; Stevens, Sarah; Tucker, David; Garne, Ester (Journal article; Peer reviewed, 2022)
      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 ...
    • Prevention of Neural Tube Defects in Europe: A Public Health Failure 

      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; Klungsøyr, Kari; Latos-Bielenska, Anna; Limb, Elisabeth; 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, Eva (Journal article; Peer reviewed, 2021)
      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 ...
    • Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study 

      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 Matias; Draper, Elizabeth S.; Etxebarriarteun, Larraitz; Gatt, Miriam; Haeusler, Martin C.H.; Khoshnood, Babak; Klungsøyr, 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; Barišić, Ingeborg; de Walle, Hermien E.K.; Roeleveld, Nel; Bergman, Jorieke E.H. (Peer reviewed; Journal article, 2020)
      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 ...
    • Survival of children with rare structural congenital anomalies: a multi-registry cohort study 

      Coi, Alessio; Santoro, Michele; Pierini, Anna; Rankin, Judith; Glinianaia, Svetlana V.; Tan, Joachim; Reid, Abigail-Kate; Garne, Ester; Loane, Maria; Given, Joanne; Ballardini, Elisa; Cavero-Carbonell, Clara; de Walle, Hermien E.K.; Gatt, Miriam; García-Villodre, Laura; Gissler, Mika; Jordan, Sue; Kiuru-Kuhlefelt, Sonja; Kjaer Urhoj, Stine; Klungsøyr, Kari; Lelong, Nathalie; Lutke, L. Renée; Neville, Amanda J.; Rahshenas, Makan; Scanlon, Ieuan; Wellesley, Diana; Morris, Joan K. (Journal article; Peer reviewed, 2022)
      Background Congenital anomalies are the leading cause of perinatal, neonatal and infant mortality in developed countries. Large long-term follow-up studies investigating survival beyond the first year of life in children ...
    • Survival, hospitalisation and surgery in children born with Pierre Robin sequence: a European population-based cohort study 

      Santoro, Michele; Garne, Ester; Coi, Alessio; Tan, Joachim; Loane, Maria; Ballardini, Elisa; Cavero-Carbonell, Clara; de Walle, Hermien E.K.; Gatt, Miriam; Gissler, Mika; Jordan, Sue; Klungsøyr, Kari; Lelong, Natalie; Urhoj, Stine Kjaer; Wellesley, Diana G.; Morris, Joan K. (Journal article; Peer reviewed, 2023)
      Objective: To evaluate survival, hospitalisations and surgical procedures for children born with Pierre Robin sequence (PRS) across Europe. Design: Multicentre population-based cohort study. Setting: Data on 463 live ...
    • Temporal and geographical variations in survival of children born with congenital anomalies in Europe: A multi-registry cohort study 

      Santoro, Michele; Coi, Alessio; Pierini, Anna; Rankin, Judith; Glinianaia, Svetlana V.; Tan, Joachim; Reid, Abigail; Garne, Ester; Loane, Maria; Given, Joanne; Aizpurua, Amaia; Astolfi, Gianni; Barisic, Ingeborg; Cavero-Carbonell, Clara; de Walle, Hermien E. K.; Den Hond, Elly; García-Villodre, Laura; Gatt, Miriam; Gissler, Mika; Jordan, Sue; Khoshnood, Babak; Kiuru-Kuhlefelt, Sonja; Klungsøyr, Kari; Lelong, Nathalie; Lutke, Renée; Mokoroa, Olatz; Nelen, Vera; Neville, Amanda J.; Odak, Ljubica; Rissmann, Anke; Scanlon, Ieuan; Urhoj, Stine Kjaer; Wellesley, Diana; Wertelecki, Wladimir; Yevtushok, Lyubov; Morris, Joan K. (Journal article; Peer reviewed, 2022)
      Background: Congenital anomalies are a major cause of perinatal, neonatal and infant mortality. Objectives: The aim was to investigate temporal changes and geographical variation in survival of children with major ...
    • Ten-year survival of children with trisomy 13 or trisomy 18: A multi-registry European cohort study 

      Glinianaia, Svetlana V.; Rankin, Judith; Tan, Joachim; Loane, Maria; Garne, Ester; Cavero-Carbonell, Clara; De Walle, Hermien E. K.; Gatt, Miriam; Gissler, Mika; Klungsøyr, Kari; Lelong, Natalie; Neville, Amanda; Pierini, Anna; Tucker, David F.; Urhoj, Stine Kjaer; Wellesley, Diana Gay; Morris, Joan K. (Journal article; Peer reviewed, 2023)
      Objective: To investigate the survival to 10 years of age of children with trisomy 13 (T13) and children with trisomy 18 (T18), born 1995–2014. Design: Population-based cohort study that linked mortality data to data ...