Published online December 29, 2008
PEDIATRICS Vol. 123 No. 1 January 2009, pp. 256-261 (doi:10.1542/10.1542/peds.2007-2840)
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ARTICLE

Has Prenatal Screening Influenced the Prevalence of Comorbidities Associated With Down Syndrome and Subsequent Survival Rates?

Jane Halliday, PhDa,b, Veronica Collins, PhDa, Merilyn Riley, BAppl Scib, Danielle Youssef, BAppl Scib and Evelyne Muggli, MPHa

a Murdoch Childrens Research Institute, Parkville, Victoria, Australia
b Victorian Birth Defects Register, Department of Human Services, Victoria, Australia

OBJECTIVES. With this study we aimed to compare survival rates for children with Down syndrome in 2 time periods, 1 before prenatal screening (1988–1990) and 1 contemporaneous with screening (1998–2000), and to examine the frequency of comorbidities and their influence on survival rates.

METHODS. Record-linkage was performed between the population-based Victorian Birth Defects Register and records of deaths in children up to 15 years of age collected under the auspice of the Consultative Council on Obstetric and Pediatric Mortality and Morbidity. Cases of Down syndrome were coded according to the presence or absence of comorbidities by using the International Classification of Diseases, Ninth Revision classification of birth defects. Kaplan-Meier survival functions and log rank tests for equality of survival distributions were performed.

RESULTS. Of infants liveborn with Down syndrome in 1998–2000, 90% survived to 5 years of age, compared with 86% in the earlier cohort. With fetal deaths excluded, the proportion of isolated Down syndrome cases in the earlier cohort was 48.7% compared with 46.1% in the most recent cohort. In 1988–1990 there was at least 1 cardiac defect in 41.1% of cases and in 45.4% in 1998–2000. There was significant variation in survival rates for the different comorbidity groupings in the 1988–1990 cohort, but this was not so evident in the1998–2000 cohort.

CONCLUSIONS. Survival of children with Down syndrome continues to improve, and there is an overall survival figure of 90% to at least 5 years of age. It is clear from this study that prenatal screening technologies are not differentially ascertaining fetuses with Down syndrome and additional defects, because there has been no proportional increase in births of isolated cases with Down syndrome.

Key Words: comorbidity • congenital abnormalities/anomalies • Down syndrome • prenatal • survival rate

Abbreviations: DS—Down syndrome • NT—nuchal translucency • VBDR—Victorian Birth Defects Registry • CCOPMM—Consultative Council of Obstetric and Pediatric Morbidity and Mortality • df—degrees of freedom

Accepted Apr 22, 2008.


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