Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

Michele Santoro; Alessio Coi; Ingeborg Barišić; Ester Garne; Marie-Claude Addor; Jorieke E H Bergman; Fabrizio Bianchi; Ljubica Boban; Paula Braz; Clara Cavero-Carbonell; Miriam Gatt; Martin Haeusler; Agnieszka Kinsner-Ovaskainen; Kari Klungsøyr; Jennifer J Kurinczuk; Nathalie Lelong; Karen Luyt; Anna Materna-Kiryluk; Olatz Mokoroa; Carmel Mullaney; Vera Nelen; Amanda Julie Neville; Mary T O'Mahony; Isabelle Perthus; Hanitra Randrianaivo; Judith Rankin; Anke Rissmann; Florence Rouget; Bruno Schaub; David Tucker; Diana Wellesley; Lyubov Yevtushok; Anna Pierini

doi:10.1159/000501238

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

Michele Santoro, Alessio Coi, Ingeborg Barišić, Ester Garne, Marie-Claude Addor, Jorieke E H Bergman, Fabrizio Bianchi, Ljubica Boban, Paula Braz, Clara Cavero-Carbonell, Miriam Gatt, Martin Haeusler, Agnieszka Kinsner-Ovaskainen, Kari Klungsøyr, Jennifer J Kurinczuk, Nathalie Lelong, Karen Luyt, Anna Materna-Kiryluk, Olatz Mokoroa, Carmel MullaneyVera Nelen, Amanda Julie Neville, Mary T O'Mahony, Isabelle Perthus, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Bruno Schaub, David Tucker, Diana Wellesley, Lyubov Yevtushok, Anna Pierini

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Abstract

BACKGROUND: 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.

Original language	English
Journal	Neuroepidemiology
Early online date	12 Jul 2019
DOIs	https://doi.org/10.1159/000501238
Publication status	E-pub ahead of print - 12 Jul 2019

Keywords

Dandy-Walker malformation
Dandy-Walker variant
epidemiology
prevalence
EUROCAT

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10.1159/000501238

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Professor Karen Luyt
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- Bristol Medical School (THS) - Professor in Neonatal Medicine
- Bristol Poverty Institute
- Bristol Population Health Science Institute
- Bristol Neuroscience
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Santoro, M., Coi, A., Barišić, I., Garne, E., Addor, M.-C., Bergman, J. E. H., Bianchi, F., Boban, L., Braz, P., Cavero-Carbonell, C., Gatt, M., Haeusler, M., Kinsner-Ovaskainen, A., Klungsøyr, K., Kurinczuk, J. J., Lelong, N., Luyt, K., Materna-Kiryluk, A., Mokoroa, O., ... Pierini, A. (2019). Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study. Neuroepidemiology. Advance online publication. https://doi.org/10.1159/000501238

@article{124f0e7899de4238846833b52407c87f,

title = "Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study",

abstract = "BACKGROUND: 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.",

keywords = "Dandy-Walker malformation, Dandy-Walker variant, epidemiology, prevalence, EUROCAT",

author = "Michele Santoro and Alessio Coi and Ingeborg Bari{\v s}i{\'c} and Ester Garne and Marie-Claude Addor and Bergman, {Jorieke E H} and Fabrizio Bianchi and Ljubica Boban and Paula Braz and Clara Cavero-Carbonell and Miriam Gatt and Martin Haeusler and Agnieszka Kinsner-Ovaskainen and Kari Klungs{\o}yr and Kurinczuk, {Jennifer J} and Nathalie Lelong and Karen Luyt and Anna Materna-Kiryluk and Olatz Mokoroa and Carmel Mullaney and Vera Nelen and Neville, {Amanda Julie} and O'Mahony, {Mary T} and Isabelle Perthus and Hanitra Randrianaivo and Judith Rankin and Anke Rissmann and Florence Rouget and Bruno Schaub and David Tucker and Diana Wellesley and Lyubov Yevtushok and Anna Pierini",

year = "2019",

month = jul,

day = "12",

doi = "10.1159/000501238",

language = "English",

journal = "Neuroepidemiology",

issn = "0251-5350",

publisher = "Karger Publishers",

}

Santoro, M, Coi, A, Barišić, I, Garne, E, Addor, M-C, Bergman, JEH, Bianchi, F, Boban, L, Braz, P, Cavero-Carbonell, C, Gatt, M, Haeusler, M, Kinsner-Ovaskainen, A, Klungsøyr, K, Kurinczuk, JJ, Lelong, N, Luyt, K, Materna-Kiryluk, A, Mokoroa, O, Mullaney, C, Nelen, V, Neville, AJ, O'Mahony, MT, Perthus, I, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Yevtushok, L & Pierini, A 2019, 'Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study', Neuroepidemiology. https://doi.org/10.1159/000501238

TY - JOUR

T1 - Epidemiology of Dandy-Walker Malformation in Europe

T2 - A EUROCAT Population-Based Registry Study

AU - Santoro, Michele

AU - Coi, Alessio

AU - Barišić, Ingeborg

AU - Garne, Ester

AU - Addor, Marie-Claude

AU - Bergman, Jorieke E H

AU - Bianchi, Fabrizio

AU - Boban, Ljubica

AU - Braz, Paula

AU - Cavero-Carbonell, Clara

AU - Gatt, Miriam

AU - Haeusler, Martin

AU - Kinsner-Ovaskainen, Agnieszka

AU - Klungsøyr, Kari

AU - Kurinczuk, Jennifer J

AU - Lelong, Nathalie

AU - Luyt, Karen

AU - Materna-Kiryluk, Anna

AU - Mokoroa, Olatz

AU - Mullaney, Carmel

AU - Nelen, Vera

AU - Neville, Amanda Julie

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 - Yevtushok, Lyubov

AU - Pierini, Anna

PY - 2019/7/12

Y1 - 2019/7/12

N2 - BACKGROUND: 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.

AB - BACKGROUND: 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.

KW - Dandy-Walker malformation

KW - Dandy-Walker variant

KW - epidemiology

KW - prevalence

KW - EUROCAT

U2 - 10.1159/000501238

DO - 10.1159/000501238

M3 - Article (Academic Journal)

C2 - 31302658

SN - 0251-5350

JO - Neuroepidemiology

JF - Neuroepidemiology

ER -

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

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