• 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, ...
    • Congenital clubfoot in Europe: A population-based study 

      Wang, Hao; Barisic, Ingeborg; Loane, Maria; Addor, Marie-Claude; Bailey, Linda M.; Gatt, Miriam; Klungsøyr, Kari; Mokoroa, Olatz; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Rissmann, Anke; Verellen-Dumoulin, Christine; de Walle, Hermien E.K.; Wiesel, Awi; Wisniewska, Katarzyna; de Jong van den Berg, Lolkje T.W.; Dolk, Helen; Khoshnood, Babak; Garne, Ester (Peer reviewed; Journal article, 2019)
      We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major ...
    • 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 ...
    • Improving information on maternal medication use by linking prescription data to congenital anomaly registers: a EUROmediCAT study 

      de Jonge, Linda; Garne, Ester; Gini, Rosa; Jordan, Susan E.; Klungsøyr, Kari; Loane, Maria; Neville, Amanda J.; Pierini, Anna; Puccini, Aurora; Thayer, Daniel S.; Tucker, David; Vinkel Hansen, Anne; Bakker, Marian K. (Journal article, 2015-07-08)
      Introduction Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have ...
    • 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 ...
    • Long term trends in prevalence of neural tube defects in Europe: population based study 

      Khoshnood, Babak; Loane, Maria; De Walle, Hermien; Klungsøyr, Kari (Peer reviewed; Journal article, 2015-11-24)
      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 ...
    • 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 ...
    • Metformin exposure in first trimester of pregnancy and risk of all or specific congenital anomalies: exploratory case-control study 

      Given, Joanne E.; Loane, Maria; Garne, Ester; Addor, Marie-Claude; Bakker, Marian; Bertaut-Nativel, Bénédicte; Gatt, Miriam; Klungsøyr, Kari; Lelong, Nathalie; Morgan, Margery; Neville, Amanda J; Pierini, Anna; Rissmann, Anke; Dolk, Helen (Peer reviewed; Journal article, 2018)
      Objective: To investigate whether exposure to metformin during the first trimester of pregnancy, for diabetes or other indications, increases the risk of all or specific congenital anomalies. Design: Population based ...
    • 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 microcephaly in Europe: Population based study 

      Morris, Joan K.; Rankin, Judith; Garne, Ester; Loane, Maria; Greenlees, Ruth; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bergman, Jorieke E.H.; Csaky-Szunyogh, Melinda; Dias, Carlos; Draper, Elizabeth S.; Gatt, Miriam; Khoshnood, Babak; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Lynch, Catherine; McDonnell, Robert; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary T.; Pierini, Anna; Randrianaivo, Hanitra; Rissmann, Anke; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien E.K.; Wellesley, Diana; Wiesel, Awi; Dolk, Helen (Peer reviewed; Journal article, 2016)
      Objectives: To provide contemporary estimates of the prevalence of microcephaly in Europe, determine if the diagnosis of microcephaly is consistent across Europe, and evaluate whether changes in prevalence would be detected ...
    • 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 ...
    • Trends in congenital anomalies in Europe from 1980 to 2012 

      Morris, Joan K.; Springett, Anna L.; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bergman, Jorieke E.H.; Csáky-Szunyogh, Melinda; Dias, Carlos; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Khoshnood, Babak; Klungsøyr, Kari; Lynch, Catherine; McDonnell, Robert; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Kurinczuk, Jennifer; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen (Peer reviewed; Journal article, 2018-04-05)
      Background: Surveillance of congenital anomalies is important to identify potential teratogens. Methods: This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based ...