• 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 ...
    • 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 ...
    • Holt Oram syndrome: a registry-based study in Europe 

      Barisic, Ingeborg; Boban, Ljubica; Greenlees, Ruth; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke E. H.; Braz, Paula; Budd, Judith L. S.; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsøyr, Kari; McDonnell, Bob; Nelen, Vera; Pierini, Anna; Queisser-Wahrendorf, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Dolk, Helen (Peer reviewed; Journal article, 2014-10-25)
      Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from ...
    • 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 congenital heart defects in Europe, 2008–2015: A registry-based study 

      Mamasoula, Chrysovalanto; Addor, Marie-Claude; Carbonell, Clara Cavero; 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; Pierini, Anna; Bertaut-Nativel, Bénédicte; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Zymak-Zakutnia, Natalya; Barisic, Ingeborg; de Walle, Hermien E.K.; Lanzoni, Monica; Mullaney, Carmel; Pennington, Lindsay; Rankin, Judith (Journal article; Peer reviewed, 2022)
      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 ...
    • 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 ...
    • 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 ...
    • Surveillance of multiple congenital anomalies; searching for new associations 

      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, Ester (Journal article; Peer reviewed, 2023)
      Many 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 ...
    • 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 ...
    • 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 ...