TY - JOUR
T1 - Epidemiology of Pierre-Robin sequence in Europe
T2 - A population-based EUROCAT study
AU - Santoro, Michele
AU - Coi, Alessio
AU - Barisic, Ingeborg
AU - Pierini, Anna
AU - Addor, Marie-Claude
AU - Baldacci, Silvia
AU - Ballardini, Elisa
AU - Boban, Ljubica
AU - Braz, Paula
AU - Cavero-Carbonell, Clara
AU - de Walle, Hermien E. K.
AU - Draper, Elizabeth S.
AU - Gatt, Miriam
AU - Haeusler, Martin
AU - Klungsoyr, Kari
AU - Kurinczuk, Jennifer J.
AU - Materna-Kiryluk, Anna
AU - Lanzoni, Monica
AU - Lelong, Nathalie
AU - Luyt, Karen
AU - Mokoroa, Olatz
AU - Mullaney, Carmel
AU - Nelen, Vera
AU - O'Mahony, Mary T.
AU - Perthus, Isabelle
AU - Randrianaivo, Hanitra
AU - Rankin, Judith
AU - Rissmann, Anke
AU - Rouget, Florence
AU - Schaub, Bruno
AU - Tucker, David
AU - Wellesley, Diana
AU - Zymak-Zakutnia, Nataliia
AU - Garne, Ester
N1 - © 2021 John Wiley & Sons Ltd.
PY - 2021/9
Y1 - 2021/9
N2 - 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 using a cohort of cases from EUROCAT, the European network of population-based registries of congenital anomalies.Methods We analysed cases of PRS born in the period 1998-2017 collected by 29 population-based congenital anomaly registries in 17 different countries. We calculated prevalence estimates, prenatal detection rate, survival up to 1 week, and proportions of associated anomalies. The effect of maternal age was tested using a Poisson regression model.Results Out of 11 669 155 surveyed births, a total of 1294 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 births (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 12.0% (95% CI 9.8, 14.5) and increased to 16.0% (95% CI 12.7, 19.7) in the sub-period 2008-2017. The prevalence rate ratio of non-chromosomal cases with maternal age >= 35 was higher than in cases with maternal ageConclusions This epidemiological study using a 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.
AB - 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 using a cohort of cases from EUROCAT, the European network of population-based registries of congenital anomalies.Methods We analysed cases of PRS born in the period 1998-2017 collected by 29 population-based congenital anomaly registries in 17 different countries. We calculated prevalence estimates, prenatal detection rate, survival up to 1 week, and proportions of associated anomalies. The effect of maternal age was tested using a Poisson regression model.Results Out of 11 669 155 surveyed births, a total of 1294 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 births (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 12.0% (95% CI 9.8, 14.5) and increased to 16.0% (95% CI 12.7, 19.7) in the sub-period 2008-2017. The prevalence rate ratio of non-chromosomal cases with maternal age >= 35 was higher than in cases with maternal ageConclusions This epidemiological study using a 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.
KW - Abnormalities, Multiple
KW - Europe/epidemiology
KW - Female
KW - Humans
KW - Maternal Age
KW - Pierre Robin Syndrome/epidemiology
KW - Pregnancy
KW - Prevalence
KW - Registries
U2 - 10.1111/ppe.12776
DO - 10.1111/ppe.12776
M3 - Article
C2 - 34132407
SN - 0269-5022
VL - 35
SP - 530
EP - 539
JO - Paediatric and Perinatal Epidemiology
JF - Paediatric and Perinatal Epidemiology
IS - 5
ER -