Percorrer por autor "Broughan, Jennifer M."
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- Epidemiology of aplasia cutis congenita: A population‐based study in EuropePublication . Coi, Alessio; Barisic, Ingeborg; Garne, Ester; Pierini, Anna; Addor, Marie‐Claude; Aizpurua Atxega, Amaia; Ballardini, Elisa; Braz, Paula; Broughan, Jennifer M.; Cavero‐Carbonell, Clara; de Walle, Hermien E.K.; Draper, Elizabeth S.; Gatt, Miriam; Häusler, Martin; Kinsner‐Ovaskainen, Agnieszka; Kurinczuk, Jennifer J.; Lelong, Nathalie; Luyt, Karen; Mezzasalma, Lorena; Mullaney, Carmel; Nelen, Vera; Odak, Ljubica; O'Mahony, Mary T.; Perthus, Isabelle; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Wiśniewska, Katarzyna; Yevtushok, Lyubov; Santoro, MicheleBackground: Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and medium-sized studies. Objectives: This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anomalies (EUROCAT). Methods: Twenty-eight EUROCAT population-based registries in 16 European countries were involved. Poisson regression models were exploited to estimate the overall and live birth prevalence, to test time trends in prevalence between four 5-year periods and to evaluate the impact of the change of coding for ACC from the unspecific ICD9-BPA code to the specific ICD10 code. Proportions of ACC cases associated with other anomalies were reported. Results: Five hundred cases were identified in the period 1998-2017 (prevalence: 5.10 per 100,000 births). Prevalence across 5-year periods did not differ significantly and no significant differences were evident due to the change from ICD9 to ICD10 in ACC coding. Heterogeneity in prevalence was observed across registries. The scalp was the most common site for ACC (96.4%) and associated congenital anomalies were present in 33.8% of cases. Patau and Adams-Oliver syndromes were the most frequent among the associated chromosomal anomalies (88.3%) and the associated genetic syndromes (57.7%), respectively. 16% of cases were associated with limb anomalies and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases. Conclusion: To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies.
- Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countriesPublication . Morris, Joan K.; Wellesley, Diana; Limb, Elizabeth; Bergman, Jorieke E.H.; Kinsner‐Ovaskainen, Agnieszka; Addor, Marie Claude; Broughan, Jennifer M.; Cavero‐Carbonell, Clara; Matias Dias, Carlos; Echevarría‐González‐de‐Garibay, Luis‐Javier; Gatt, Miriam; Haeusler, Martin; Barisic, Ingeborg; Klungsoyr, 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, EsterBackground: 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 anomaly and the aim of this study was to analyze the prevalence of other possible vascular disruption anomalies to determine whether both the younger maternal age and the UK associations also occur with these anomalies. Methods: All pregnancies with anomalies considered potentially due to vascular disruption from January 1, 2005 to December 31, 2017 from 26 European population-based congenital anomaly registries who were members of EUROCAT were analyzed. Multilevel models were used to allow for differences between registries when analyzing associations with maternal age, year of birth and whether the registry was in the United Kingdom. Results: There were 5,220 cases with potential vascular disruption anomalies, excluding chromosomal and genetic conditions, with a prevalence of 8.85 per 10,000 births in the United Kingdom and 5.44 in the other European countries. The prevalence per 10,000 births of gastroschisis (4.45 vs. 1.56) and congenital constriction bands (0.83 vs. 0.42) was significantly higher in the United Kingdom, even after adjusting for maternal age. However, transverse limb reduction defects had a similar prevalence (2.16 vs. 2.14 per 10,000). The expected increased prevalence in younger mothers was observed for vascular disruption anomalies overall and for the individual anomalies: gastroschisis and congenital constriction bands. Conclusion: Vascular disruption anomalies that had an increased risk for younger mothers (such as gastroschisis) had a higher maternal age standardized prevalence in the United Kingdom, while vascular disruption anomalies with weaker associations with younger mothers (such as transverse limb reduction defects) did not have an increased prevalence in the United Kingdom, which may indicate a different etiology for these anomalies.