Genetics & Birth Defects| March 01 2009 Prevalence and Survival of Down Syndrome AAP Grand Rounds (2009) 21 (3): 33. https://doi.org/10.1542/gr.21-3-33 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Twitter LinkedIn Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Prevalence and Survival of Down Syndrome. AAP Grand Rounds March 2009; 21 (3): 33. https://doi.org/10.1542/gr.21-3-33 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search nav search search input Search input auto suggest search filter All PublicationsAll JournalsAAP Grand RoundsPediatricsHospital PediatricsPediatrics In ReviewNeoReviewsAAP NewsAll AAP Sites Search Advanced Search Topics: down syndrome Source: Irving C, Basu A, Richmond S, et al. Twenty-year trends in prevalence and survival of Down syndrome. European Journal of Human Genetics. 2008;16:1336–1340; doi:10.1038/ejhg.2008.122 Investigators from Newcastle upon Tyne, UK, sought to determine trends in the prevalence of, and one-year survival of, infants born with Down syndrome in one health region of England. For the years 1985 to 2004 a northern England malformation registry was queried for details on all live births, live births of infants with Down syndrome confirmed by karyotype, and terminations of pregnancy because of Down syndrome. A regional pediatric cardiology database was examined for information on cardiovascular malformations associated with Down syndrome, while survival was confirmed using a regional perinatal mortality registry. Among 690,215 live births, there were 1,188 pregnancies affected by Down syndrome (1.72 per 1,000 total births). The proportion increased over 20 years from 1.3 to 2.5 per 1,000 total births (P<.0001). There were 784 infants born live with Down syndrome, 389 terminations because Down syndrome was prenatally diagnosed, and 51 stillbirths with the disorder. The prevalence of live births with Down syndrome declined from 1985–1994 but increased from 1995–2004 resulting in no overall change. Total live births in the population studied declined by 20%, while the proportion of women delivering over 35 years of age increased from 6% to 15%. The proportion of women who were 35 years of age or older at delivery in Down syndrome pregnancies increased from 30% to 52% during the study period. Maternal serum screening increased from none to 35% by 1993, and then remained steady through the remainder of the study period. The decision to terminate pregnancy after antenatal diagnosis varied with maternal age, with an increased incidence of termination in mothers over 30 years of age. Overall, one-year survival was 90%. Cardiovascular malformations were detected in 40% of liveborn infants. Survival in infants with Down syndrome with normal hearts increased from 93% in the first 10 years to 97% in the second while in those with cardiovascular malformations survival increased from 78% to 90%. The authors conclude that increasing maternal age at the time of delivery and improved survival of children with Down syndrome appear to have offset the effects of prenatal diagnosis followed by termination of pregnancy, and a declining general birth rate. Dr. Iafolla has disclosed no financial relationship relevant to this commentary. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device. Infants with Down syndrome, the commonest chromosomal abnormality,1,2 are now expected to survive into middle and late adulthood. Increased longevity has been attributed to improved care, especially of those with cardiovascular and gastrointestinal malformations. Changes in the birth prevalence and survival of Down syndrome have implications for long-term care of these patients. Prenatal serum screening for predicting the risk of Down syndrome has been available since the late 1980s. Other newer strategies such as nuchal translucency have also been introduced.3 These tests, in combination... You do not currently have access to this content.