• 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 ...
    • 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 ...
    • 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 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 ...
    • 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 ...
    • 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 ...
    • 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 ...
    • 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 ...