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 < 0.001) and significantly less likely to have a non-cardiac anomaly (12.9% compared with 16.7%, P < 0.001). The prevalence of cardiac and non-cardiac congenital anomalies in babies with Down syndrome has remained constant, suggesting that population screening for Down syndrome and subsequent terminations has not influenced the prevalence of specific congenital anomalies in these babies.
authors.affiliation: Queen Mary University of London, London, United Kingdom.
authors.forename: Joan K
authors.initials: JK
authors.lastname: Morris
authors.forename: Ester
authors.initials: E
authors.lastname: Garne
authors.forename: Diana
authors.initials: D
authors.lastname: Wellesley
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Addor
authors.forename: Larraitz
authors.initials: L
authors.lastname: Arriola
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Barisic
authors.forename: Judit
authors.initials: J
authors.lastname: Beres
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Bianchi
authors.forename: Judith
authors.initials: J
authors.lastname: Budd
authors.forename: Carlos Matias
authors.initials: CM
authors.lastname: Dias
authors.forename: Miriam
authors.initials: M
authors.lastname: Gatt
authors.forename: Kari
authors.initials: K
authors.lastname: Klungsoyr
authors.forename: Babak
authors.initials: B
authors.lastname: Khoshnood
authors.forename: Anna
authors.initials: A
authors.lastname: Latos-Bielenska
authors.forename: Carmel
authors.initials: C
authors.lastname: Mullaney
authors.forename: Vera
authors.initials: V
authors.lastname: Nelen
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Neville
authors.forename: Mary
authors.initials: M
authors.lastname: O'Mahony
authors.forename: Annette
authors.initials: A
authors.lastname: Queisser-Luft
authors.forename: Hanitra
authors.initials: H
authors.lastname: Randrianaivo
authors.forename: Judith
authors.initials: J
authors.lastname: Rankin
authors.forename: Anke
authors.initials: A
authors.lastname: Rissmann
authors.forename: Cath
authors.initials: C
authors.lastname: Rounding
authors.forename: Antonin
authors.initials: A
authors.lastname: Sipek
authors.forename: Sylvia
authors.initials: S
authors.lastname: Stoianova
authors.forename: David
authors.initials: D
authors.lastname: Tucker
authors.forename: Hermien
authors.initials: H
authors.lastname: de Walle
authors.forename: Lyubov
authors.initials: L
authors.lastname: Yevtushok
authors.forename: Maria
authors.initials: M
authors.lastname: Loane
authors.forename: Helen
authors.initials: H
authors.lastname: Dolk
mesh_terms: D000028:Abortion, Induced / Q000706:statistics & numerical data*; D000013:Congenital Abnormalities / Q000453:epidemiology*; D004314:Down Syndrome / Q000453:epidemiology* / Q000473:pathology*; D005060:Europe / Q000453:epidemiology; D005260:Female; D006330:Heart Defects, Congenital / Q000453:epidemiology* / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D016015:Logistic Models; D008297:Male; D015995:Prevalence; D012042:Registries / Q000706:statistics & numerical data; D012737:Sex Factors
keywords: Down syndrome; cardiac anomalies; prenatal diagnosis