Browsing by Author "Bianchi, Fabrizio"
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- Epidemiology of achondroplasia: a population‐based study in EuropePublication . Coi, Alessio; Santoro, Michele; Garne, Ester; Pierini, Anna; Addor, Marie‐Claude; Alessandri, Jean‐Luc; Bergman, Jorieke E.H.; Bianchi, Fabrizio; Boban, Ljubica; Braz, Paula; Cavero‐Carbonell, Clara; Gatt, Miriam; Haeusler, Martin; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Lanzoni, Monica; Lelong, Nathalie; Luyt, Karen; Mokoroa, Olatz; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary T.; Perthus, Isabelle; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Wisniewska, Katarzyna; Zymak‐Zakutnia, Nataliia; Barišić, IngeborgAchondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991-2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14-4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011-2015 vs. 36% in 1991-1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia.
- Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry StudyPublication . 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, AnnaBackground: 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 investigate the epidemiology of DW malformation, using data from the European population-based registries of congenital anomalies in the European Surveillance of Congenital Anomalies network. Methods: Anonymous individual data on cases of DW malformation diagnosed in 2002-2015 from 28 registries in 17 countries were included. Prevalence, prenatal detection rate, proportions and types of associated anomalies were estimated. Cases of DW variant were considered and analysed separately. Results: Out of 8,028,454 surveyed births we identified a total of 734 cases, including 562 DW malformation cases and 172 DW variant cases. The overall prevalence of DW malformation was 6.79 per 100,000 births (95% CI 5.79-7.96) with 39.2% livebirths, 4.3% foetal deaths from 20 weeks gestational age, and 56.5% terminations of pregnancy after prenatal diagnosis of foetal anomaly at any gestation (TOPFA). The livebirth prevalence was 2.74 per 100,000 births (95% CI 2.08-3.61). The prenatal detection rate was 87.6%. Two-hundred and seventy-three cases (48.6%) had an isolated cerebral anomaly and 24.2, 19.2 and 5.5% cases were associated with other structural non-cerebral anomalies, chromosomal anomalies and genetic syndromes respectively. The prevalence of DW variant was 2.08 per 100,000 (95% CI 1.39-3.13). Conclusions: This European population-based study provides the epidemiological profile of DW malformation. All birth outcomes were analysed and TOPFA represented more than half of the cases. About 50% of the cases of DW malformation were associated with other non-cerebral anomalies. Large populations and all birth outcomes are essential in epidemiological studies of rare and severe congenital anomalies.
- Long term trends in prevalence of neural tube defects in Europe: population based studyPublication . Khoshnood, Babak; Loane, Maria; Walle, Hermien de; Arriola, Larraitz; Addor, Marie-Claude; Barisic, Ingeborg; Beres, Judit; Bianchi, Fabrizio; Dias, Carlos Matias; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Klungsoyr, Kari; Latos-Bielenska, Anna; Lynch, Catherine; McDonnell, Bob; Nelen, Vera; Neville, Amanda J.; O’Mahony, Mary T.; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Sipek, Antonin; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, HelenStudy 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 have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist? Methods: This was a population based, observational study using data on 11 353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries between 1991 and 2011. The main outcome measures were total and live birth prevalence of NTD, as well as anencephaly and spina bifida, with time trends analysed using random effects Poisson regression models to account for heterogeneities across registries and splines to model non-linear time trends. Summary answer and limitations: Overall, the pooled total prevalence of NTD during the study period was 9.1 per 10 000 births. Prevalence of NTD fluctuated slightly but without an obvious downward trend, with the final estimate of the pooled total prevalence of NTD in 2011 similar to that in 1991. Estimates from Poisson models that took registry heterogeneities into account showed an annual increase of 4% (prevalence ratio 1.04, 95% confidence interval 1.01 to 1.07) in 1995-99 and a decrease of 3% per year in 1999-2003 (0.97, 0.95 to 0.99), with stable rates thereafter. The trend patterns for anencephaly and spina bifida were similar, but neither anomaly decreased substantially over time. The live birth prevalence of NTD generally decreased, especially for anencephaly. Registration problems or other data artefacts cannot be excluded as a partial explanation of the observed trends (or lack thereof) in the prevalence of NTD. What this study adds: In the absence of mandatory fortification, the prevalence of NTD has not decreased in Europe despite longstanding recommendations aimed at promoting peri-conceptional folic acid supplementation and existence of voluntary folic acid fortification.