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  1. Article

    Open Access

    Medication use during pregnancy and the risk of gastroschisis: a systematic review and meta-analysis of observational studies

    The aetiology of gastroschisis is considered multifactorial. We conducted a systematic review and meta-analysis to assess whether the use of medications during pregnancy, is associated with the risk of gastros...

    Silvia Baldacci, Michele Santoro, Lorena Mezzasalma in Orphanet Journal of Rare Diseases (2024)

  2. Article

    Open Access

    Prescriptions for insulin and insulin analogues in children with and without major congenital anomalies: a data linkage cohort study across six European regions

    Are children with major congenital anomalies more likely to develop diabetes requiring insulin therapy, as indicated by prescriptions for insulin, than children without congenital anomalies? The aim of this st...

    Joanne Given, Joan K. Morris, Ester Garne in European Journal of Pediatrics (2023)

  3. Article

    Open Access

    Accuracy of congenital anomaly coding in live birth children recorded in European health care databases, a EUROlinkCAT study

    Electronic health care databases are increasingly being used to investigate the epidemiology of congenital anomalies (CAs) although there are concerns about their accuracy. The EUROlinkCAT project linked data ...

    Marian K. Bakker, Maria Loane, Ester Garne in European Journal of Epidemiology (2023)

  4. Article

    Open Access

    Information needs of parents of children with congenital anomalies across Europe: a EUROlinkCAT survey

    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...

    Elena Marcus, Anna Latos-Bielenska, Anna Jamry-Dziurla, Ingeborg Barišić in BMC Pediatrics (2022)

  5. Article

    Open Access

    Survival of children with rare structural congenital anomalies: a multi-registry cohort study

    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...

    Alessio Coi, Michele Santoro, Anna Pierini in Orphanet Journal of Rare Diseases (2022)

  6. No Access

    Article

    Signal Detection in EUROmediCAT: Identification and Evaluation of Medication–Congenital Anomaly Associations and Use of VigiBase as a Complementary Source of Reference

    Knowledge on the safety of medication use during pregnancy is often sparse. Pregnant women are generally excluded from clinical trials, and there is a dependence on post-marketing surveillance to identify tera...

    Alana Cavadino, Lovisa Sandberg, Inger Öhman, Tomas Bergvall, Kristina Star in Drug Safety (2021)

  7. Article

    Open Access

    Survival of patients with rare diseases: a population-based study in Tuscany (Italy)

    Rare diseases (RDs) encompass a heterogeneous group of life-threatening or chronically debilitating conditions that individually affect a small number of subjects but overall represent a major public health is...

    Francesca Gorini, Alessio Coi, Lorena Mezzasalma in Orphanet Journal of Rare Diseases (2021)

  8. Article

    Open Access

    Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)

    Systemic Sclerosis (SSc) is a chronic autoimmune disease with a complex pathogenesis that includes vascular injury, abnormal immune activation, and tissue fibrosis. We provided a complete epidemiological chara...

    Alessio Coi, Simone Barsotti, Michele Santoro in Orphanet Journal of Rare Diseases (2021)

  9. No Access

    Article

    Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

    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 conge...

    Romy van de Putte, Iris A. L. M. van Rooij, Carlo L. M. Marcelis in Pediatric Research (2020)

  10. Article

    Open Access

    Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study

    The prevalence of chronic hypertension is increasing in pregnant women. Beta-blockers are among the most prevalent anti-hypertensive agents used in early pregnancy.

    Jorieke E. H. Bergman, L. Renée Lutke, Rijk O. B. Gans, Marie-Claude Addor in Drug Safety (2018)

  11. Article

    Open Access

    Epidemiology of hypospadias in Europe: a registry-based study

    Hypospadias is a common congenital malformation. The prevalence of hypospadias has a large geographical variation, and recent studies have reported both increasing and decreasing temporal trends. It is unclear...

    Jorieke E. H. Bergman, Maria Loane, Martine Vrijheid in World Journal of Urology (2015)

  12. Article

    Open Access

    Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers: A EUROmediCAT Study

    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 ...

    Linda de Jonge, Ester Garne, Rosa Gini, Susan E. Jordan, Kari Klungsoyr in Drug Safety (2015)

  13. No Access

    Article

    Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies: a European register-based study

    Evidence of an association between early pregnancy exposure to selective serotonin reuptake inhibitors (SSRI) and congenital heart defects (CHD) has contributed to recommendations to weigh benefits and risks c...

    Anthony Wemakor, Karen Casson, Ester Garne in European Journal of Epidemiology (2015)

  14. Article

    Open Access

    Holt Oram syndrome: a registry-based study in Europe

    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 EU...

    Ingeborg Barisic, Ljubica Boban, Ruth Greenlees in Orphanet Journal of Rare Diseases (2014)