Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study

Joan K. Morris; Ester Garne; Diana Wellesley; Marie-Claude Addor; Larraitz Arriola; Ingeborg Barisic; Judit Beres; Fabrizio Bianchi; Judith Budd; Carlos Matias Dias; Miriam Gatt; Kari Klungsoyr; Babak Khoshnood; Anna Latos-Bielenska; Carmel Mullaney; Vera Nelen; Amanda J. Neville; Mary O'Mahony; Annette Queisser-Luft; Hanitra Randrianaivo; Judith Rankin; Anke Rissmann; Cath Rounding; Antonin Sipek; Sylvia Stoianova; David Tucker; Hermien de Walle; Lyubov Yevtushok; Maria Loane; Helen Dolk

doi:10.1002/ajmg.a.36780

Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study

Joan K. Morris^*
, Ester Garne
, Diana Wellesley
, Marie-Claude Addor
, Larraitz Arriola
, Ingeborg Barisic
, Judit Beres
, Fabrizio Bianchi
, Judith Budd
, Carlos Matias Dias
, Miriam Gatt
, Kari Klungsoyr
, Babak Khoshnood
, Anna Latos-Bielenska
, Carmel Mullaney
, Vera Nelen
, Amanda J. Neville
, Mary O'Mahony
, Annette Queisser-Luft
, Hanitra Randrianaivo

Judith Rankin, Anke Rissmann, Cath Rounding, Antonin Sipek, Sylvia Stoianova, David Tucker, Hermien de Walle, Lyubov Yevtushok, Maria Loane, Helen Dolk

^*Corresponding author for this work

Reproductive Origins of Adult Health and Disease (ROAHD)

Research output: Contribution to journal › Article › Academic › peer-review

69 Citations (Scopus)

Abstract

Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were significantly more likely to have a cardiac anomaly compared to male babies (47.6% compared with 40.4%, P

Original language	English
Pages (from-to)	2979-2986
Number of pages	8
Journal	American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
Volume	164A
Issue number	12
DOIs	https://doi.org/10.1002/ajmg.a.36780
Publication status	Published - Dec-2014

Keywords

Down syndrome
cardiac anomalies
prenatal diagnosis
FETAL NUCHAL TRANSLUCENCY
HEART-DEFECTS
SEX-DIFFERENCES
PREVALENCE
MALFORMATIONS
DISEASE
EUROPE
IMPACT
SERUM

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Major Congenital Anomalies in Babies Born With Down Syndrome A EUROCAT
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EUROCAT Northern Netherlands
Broekstra, D. (Supervisor), Kammen-Bergman, van, J. (Contributor), Bakker, M. (Contributor), Lutke, L. (Contributor), Doornbos, F. (Contributor), Smeijer-Ramocha, L. (Data Manager), van der Woude, A. (Contributor), de Walle, H. (Contributor), Muhlenberg, N. (Data Manager) & Kerkhof, M. (Contributor), University of Groningen, 1981
DOI: 10.34760/5f5b80ff2a7a4, http://eurocat.umcg.nl
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Morris, J. K., Garne, E., Wellesley, D., Addor, M.-C., Arriola, L., Barisic, I., Beres, J., Bianchi, F., Budd, J., Dias, C. M., Gatt, M., Klungsoyr, K., Khoshnood, B., Latos-Bielenska, A., Mullaney, C., Nelen, V., Neville, A. J., O'Mahony, M., Queisser-Luft, A., ... Dolk, H. (2014). Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 164A(12), 2979-2986. https://doi.org/10.1002/ajmg.a.36780

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title = "Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study",

abstract = "Previous studies have shown that over 40\% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6\% (95\% CI: 42.4-44.7\%) of births with Down syndrome had a cardiac anomaly and 15.0\% (14.2-15.8\%) had a non-cardiac anomaly. Female babies with Down syndrome were significantly more likely to have a cardiac anomaly compared to male babies (47.6\% compared with 40.4\%, P",

keywords = "Down syndrome, cardiac anomalies, prenatal diagnosis, FETAL NUCHAL TRANSLUCENCY, HEART-DEFECTS, SEX-DIFFERENCES, PREVALENCE, MALFORMATIONS, DISEASE, EUROPE, IMPACT, SERUM",

author = "Morris, \{Joan K.\} and Ester Garne and Diana Wellesley and Marie-Claude Addor and Larraitz Arriola and Ingeborg Barisic and Judit Beres and Fabrizio Bianchi and Judith Budd and Dias, \{Carlos Matias\} and Miriam Gatt and Kari Klungsoyr and Babak Khoshnood and Anna Latos-Bielenska and Carmel Mullaney and Vera Nelen and Neville, \{Amanda J.\} and Mary O'Mahony and Annette Queisser-Luft and Hanitra Randrianaivo and Judith Rankin and Anke Rissmann and Cath Rounding and Antonin Sipek and Sylvia Stoianova and David Tucker and \{de Walle\}, Hermien and Lyubov Yevtushok and Maria Loane and Helen Dolk",

year = "2014",

month = dec,

doi = "10.1002/ajmg.a.36780",

language = "English",

volume = "164A",

pages = "2979--2986",

journal = "American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics",

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Morris, JK, Garne, E, Wellesley, D, Addor, M-C, Arriola, L, Barisic, I, Beres, J, Bianchi, F, Budd, J, Dias, CM, Gatt, M, Klungsoyr, K, Khoshnood, B, Latos-Bielenska, A, Mullaney, C, Nelen, V, Neville, AJ, O'Mahony, M, Queisser-Luft, A, Randrianaivo, H, Rankin, J, Rissmann, A, Rounding, C, Sipek, A, Stoianova, S, Tucker, D, de Walle, H, Yevtushok, L, Loane, M & Dolk, H 2014, 'Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study', American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, vol. 164A, no. 12, pp. 2979-2986. https://doi.org/10.1002/ajmg.a.36780

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T2 - A EUROCAT Population-Based Registry Study

AU - Morris, Joan K.

AU - Garne, Ester

AU - Wellesley, Diana

AU - Addor, Marie-Claude

AU - Arriola, Larraitz

AU - Barisic, Ingeborg

AU - Beres, Judit

AU - Bianchi, Fabrizio

AU - Budd, Judith

AU - Dias, Carlos Matias

AU - Gatt, Miriam

AU - Klungsoyr, Kari

AU - Khoshnood, Babak

AU - Latos-Bielenska, Anna

AU - Mullaney, Carmel

AU - Nelen, Vera

AU - Neville, Amanda J.

AU - O'Mahony, Mary

AU - Queisser-Luft, Annette

AU - Randrianaivo, Hanitra

AU - Rankin, Judith

AU - Rissmann, Anke

AU - Rounding, Cath

AU - Sipek, Antonin

AU - Stoianova, Sylvia

AU - Tucker, David

AU - de Walle, Hermien

AU - Yevtushok, Lyubov

AU - Loane, Maria

AU - Dolk, Helen

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KW - prenatal diagnosis

KW - FETAL NUCHAL TRANSLUCENCY

KW - HEART-DEFECTS

KW - SEX-DIFFERENCES

KW - PREVALENCE

KW - MALFORMATIONS

KW - DISEASE

KW - EUROPE

KW - IMPACT

KW - SERUM

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DO - 10.1002/ajmg.a.36780

M3 - Article

SN - 1552-4841

VL - 164A

SP - 2979

EP - 2986

JO - American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics

JF - American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics

IS - 12

ER -

Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study

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