Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study.

Pierre Robin sequence (PRS) is a rare congenital anomaly. Respiratory disorders and feeding difficulties represent the main burden. The aim of this study was to investigate the epidemiology of PRS using a large cohort of cases from the European population-based registries of congenital anomalies in the EUROCAT network. Cases of PRS born in the period 1998-2017 collected by 29 population-based congenital anomaly registries in 17 different countries were included in the analysis. Prevalence estimates, prenatal detection rate, survival up to 1 week, and proportions of associated anomalies weer calculated. The effect of maternal age was tested using a Poisson regression model. Out of 11,669,155 surveyed births, a total of 1,294 cases of PRS were identified. The estimate of the overall prevalence was 12.0 per 100,000 births (95%CI: 9.9-14.5). There was a total of 882 (68.2%) isolated cases and the prevalence was 7.8 per 100,000 (95%CI: 6.7-9.2). A total of 250 cases (19.3%) were associated with other structural congenital anomalies, 77 cases (6.0%) were associated with chromosomal anomalies and 77 (6.0%) with genetic syndromes. The prenatal detection rate in isolated cases was 12.6% with a significant (p=0.0001) increase in the 2008-2017 sub-period (16.0%). The prevalence rate ratio of non-chromosomal cases with maternal age >= 35 was significantly higher than in cases with maternal age <25 and the trend was significant for all cases (p=0.005) and isolated cases (p=0.006). Survival of chromosomal cases (94.2%) and multiple anomaly cases (95.3%) were both significantly lower (p<0.0001) than survival of isolated cases (99.4%). This epidemiological study using a very large series of cases of PRS provides insights into the epidemiological profile of PRS in Europe. We observed an association with higher maternal age, but further investigations are needed to test potential risk factors for PRS.

SANTORO Michele;  COI Alessio;  BARISIC Ingeborg;  PIERINI Anna;  ADDOR Marie-Claude;  BALDACCI Silvia;  BALLARDINI Elisa;  BOBAN Ljubica;  BRAZ Paula;  CAVERO-CARBONELL Clara;  DE WALLE Hermien;  DRAPER Elizabeth;  GATT Miriam;  HAEUSLER Martin;  KLUNGSOYR Kari;  KURINCZUK Jennifer;  MATERNA-KIRYLUK Anna;  LANZONI Monica;  LELONG Natalie;  LUYT Karen;  MOKOROA CAROLLO Olatz;  MULLANEY Carmel;  NELEN Vera;  O’MAHONY Mary;  PERTHUS Isabelle;  RANDRIANAIVO Hanitra;  RANKIN Judith;  RISSMANN Anke;  ROUGET Florence;  SCHAUB Bruno;  TUCKER David;  WELLESLEY Diana;  ZYMAK-ZAKUTNIA Natalia;  GARNE Ester; 

2021-11-15

WILEY

JRC125005

0269-5022 (online),   

https://onlinelibrary.wiley.com/doi/epdf/10.1111/ppe.12776,    https://publications.jrc.ec.europa.eu/repository/handle/JRC125005,   

10.1111/ppe.12776 (online),