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

Michele Santoro; Karen Luyt; Ester Garne; et al.

doi:10.1111/ppe.12776

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

Michele Santoro, Karen Luyt, Ester Garne, et al.

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Abstract

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 age <25 for total (PRR 1.26, 95% CI 1.05, 1.51) and isolated cases (PRR 1.33, 95% CI 1.00, 1.64). Survival of chromosomal cases (94.2%) and multiple anomaly cases (95.3%) were lower than survival of isolated cases (99.4%). Conclusions 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.

Original language	English
Pages (from-to)	530-539
Number of pages	10
Journal	Paediatric and Perinatal Epidemiology
Volume	35
Issue number	5
Early online date	16 Jun 2021
DOIs	https://doi.org/10.1111/ppe.12776
Publication status	Published - Sep 2021

Bibliographical note

Funding Information:
We thank Prof. Joan Morris (St. George's University of London) for her helpful suggestions. We thank JRC-EUROCAT Central Registry, European Commission, Joint Research Centre (JRC), Ispra, Italy, for the data management and selection of cases included in the study. We also thank the many people throughout Europe involved in providing and processing information, including affected families, clinicians, health professionals, medical record clerks, and registry staff.

Publisher Copyright:
© 2021 John Wiley & Sons Ltd

Keywords

epidemiology
EUROCAT
Pierre Robin sequence
prevalence
rare congenital anomalies

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@article{be244b9c3af047ada4f995c82326abe8,

title = "Epidemiology of Pierre-Robin sequence in Europe: a population-based EUROCAT study",

abstract = "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 age <25 for total (PRR 1.26, 95% CI 1.05, 1.51) and isolated cases (PRR 1.33, 95% CI 1.00, 1.64). Survival of chromosomal cases (94.2%) and multiple anomaly cases (95.3%) were lower than survival of isolated cases (99.4%). Conclusions 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.",

keywords = "epidemiology, EUROCAT, Pierre Robin sequence, prevalence, rare congenital anomalies",

author = "Michele Santoro and Karen Luyt and Ester Garne and et al.",

note = "Funding Information: We thank Prof. Joan Morris (St. George's University of London) for her helpful suggestions. We thank JRC-EUROCAT Central Registry, European Commission, Joint Research Centre (JRC), Ispra, Italy, for the data management and selection of cases included in the study. We also thank the many people throughout Europe involved in providing and processing information, including affected families, clinicians, health professionals, medical record clerks, and registry staff. Publisher Copyright: {\textcopyright} 2021 John Wiley & Sons Ltd",

year = "2021",

month = sep,

doi = "10.1111/ppe.12776",

language = "English",

volume = "35",

pages = "530--539",

journal = "Paediatric and Perinatal Epidemiology",

issn = "0269-5022",

publisher = "Wiley-Blackwell",

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}

TY - JOUR

T1 - Epidemiology of Pierre-Robin sequence in Europe

T2 - a population-based EUROCAT study

AU - Santoro, Michele

AU - Luyt, Karen

AU - Garne, Ester

AU - al., et

N1 - Funding Information: We thank Prof. Joan Morris (St. George's University of London) for her helpful suggestions. We thank JRC-EUROCAT Central Registry, European Commission, Joint Research Centre (JRC), Ispra, Italy, for the data management and selection of cases included in the study. We also thank the many people throughout Europe involved in providing and processing information, including affected families, clinicians, health professionals, medical record clerks, and registry staff. Publisher Copyright: © 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 age <25 for total (PRR 1.26, 95% CI 1.05, 1.51) and isolated cases (PRR 1.33, 95% CI 1.00, 1.64). Survival of chromosomal cases (94.2%) and multiple anomaly cases (95.3%) were lower than survival of isolated cases (99.4%). Conclusions 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 age <25 for total (PRR 1.26, 95% CI 1.05, 1.51) and isolated cases (PRR 1.33, 95% CI 1.00, 1.64). Survival of chromosomal cases (94.2%) and multiple anomaly cases (95.3%) were lower than survival of isolated cases (99.4%). Conclusions 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 - epidemiology

KW - EUROCAT

KW - Pierre Robin sequence

KW - prevalence

KW - rare congenital anomalies

U2 - 10.1111/ppe.12776

DO - 10.1111/ppe.12776

M3 - Article (Academic Journal)

C2 - 34132407

VL - 35

SP - 530

EP - 539

JO - Paediatric and Perinatal Epidemiology

JF - Paediatric and Perinatal Epidemiology

SN - 0269-5022

IS - 5

ER -

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

Abstract

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Keywords

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