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Indicator Report - Birth Defects: Down Syndrome

Why Is This Important?

Down syndrome is the most frequent genetic condition of childhood associated with intellectual impairment. Studying rates and trends of Down syndrome in Utah helps assess the burden of disease, plan for and distribute the resources needed to serve affected people and families, and estimate future needs. This information can also help monitor population-based survival and the level of preventive care provided to people with Down syndrome. The Utah Birth Defect Network (UBDN) has tracked Down syndrome since 1995.

The diagnosis of Down syndrome is confirmed with cytogenetic testing that shows the additional chromosome 21 (or piece of 21) that is diagnostic for this condition.

Children with Down syndrome are frequently born with additional structural malformations that can significantly affect their health and that often require surgical and medical treatment. The most common malformations occurring in children with Down syndrome are congenital heart malformations (50%). The American Academy of Pediatrics (AAP) has developed recommendations for health, supervision, and anticipatory guidance for infants and children with Down syndrome, to prevent complications and improve long-term health and survival by identifying early associated conditions and risk factors for morbidity. For example, the Academy recommends that all babies with Down syndrome have a pediatric cardiac evaluation with echocardiogram in the first month of life.

Several studies show that now, with better clinical care and social support, people with Down syndrome are living longer. With appropriate care, people with Down syndrome can expect to live long lives, with varying degrees of independence in the community.

The primary known risk factor for Down syndrome is advanced maternal age. Awareness of this association can help in understanding population rates of Down syndrome, project future number of affected births based on the trends in age-specific birth rates, and provide a basis for primary prevention of this condition.

Down Syndrome Overall Birth Prevalence, Utah, 1995-2009

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Data Sources

Utah Birth Defect Network. Utah Department of Health.

Other Views


Number of cases of Down syndrome per 10,000 births.

How We Calculated the Rates

Numerator: Number of cases of Down syndrome (confirmed by chromosomal analysis) among live births and fetal deaths occurring among women residing in Utah.
Denominator: Number of live births and stillbirths among women residing in Utah.

Page Content Updated On 08/26/2011, Published on 10/27/2011
The information provided above is from the Utah Department of Health's Center for Health Data IBIS-PH web site ( The information published on this website may be reproduced without permission. Please use the following citation: "Retrieved Mon, 06 July 2015 7:47:54 from Utah Department of Health, Center for Health Data, Indicator-Based Information System for Public Health Web site:".

Content updated: Tue, 19 Nov 2013 23:09:23 MST