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Striving to Prevent Birth Defects
Defect Information Defect Information Prevention Services Providers and Members About UBDN

Major Birth Defects

The UBDN defines a major birth defect as any condition present in the infant before birth resulting in major structural malformation. To see more detailed information about some of the more common birth defects monitored by the UBDN, follow the links below.

Why Is This Important?

Major birth defects are associated with many adverse outcomes, from pregnancy through adult life. Pregnancies affected by birth defects are more likely to end as a stillbirth. Affected newborns and children are at an increased risk of premature death, chronic illness, or long term disability. In the United States and other developed countries, birth defects are the leading cause of infant mortality, and are a major contributor to pediatric hospitalizations, chronic childhood illness, and developmental disabilities. Because it has the highest birth rate in the nation, birth defects are a crucial public health issue in Utah.

Tracking and studying birth defects provides the information needed to monitor the burden of disease locally and statewide, to assess services, to allocate resources for optimal care, and to evaluate prevention efforts.

How Are We Doing?

This report is based information collected by the UBDN from 1999 through 2003.

From 1999 through 2003, the UBDN identified 4,974 affected newborn babies. Thus, approximately 1,000 affected babies are born each year in the State, for a rate of 20.6 per 1000 births or approximately 2 of every 100 births (figure). This figure does not include some common, milder conditions, as noted in the introduction. With broader inclusion of structural conditions, it has been estimated that the rate of birth defects is 3% or 1 in 33 births. By including also developmental disabilities, which became apparent often only in the older or school-age child, such rate has been estimated to exceed 10% or more of births.

Clinical review at UBDN of the nearly 5,000 affected babies born from 1999 through 2003 has shown that 18% had identifiable genetic basis (chromosomal or single gene), and 0.4% had an environmental basis (including teratogens and maternal conditions such as uncontrolled diabetes). A small fraction (0.1%) was due to other known factors including twinning. In the remaining 81.5% of cases, the cause remained unknown (figure).

Review of these data also shows that birth defects in Utah are the leading cause of infant mortality, and are specifically responsible for one in four deaths in infants less than one year of age. Birth defects also disproportionately contribute to prematurity. In 2003, 20% of babies born with birth defects in Utah were premature, compared to 9% of all babies born.

Because of the efforts toward statewide folic acid education since 1995 and national flour fortification in 1998, the Utah Birth Defect Network (UBDN) has demonstrated a 50% reduction in neural tube defects. In contrast, oral facial clefts (cleft lip with and without palate, and cleft palate alone), which are among the highest reported, remain consistently high at 1/480 births.

How Does Utah Compare With the U.S.?

Overall comparisons of birth defect rates with the US must be interpreted with caution because variations in selection, ascertainment and reporting of birth defects in different states may create spurious differences (or obscure true differences) in birth defect occurrence. Some data from other states is available from the National Birth Defects Prevention Network (NBDPN) and is available on its website (www.nbdpn.org).

The overall rate of birth defects in Utah is generally in line with what is expected based on national and international experience. A common overall estimate of birth defect rate is 3 percent or 1 in 33 births. The slightly lower figure observed in Utah (2 percent or 1 in 50 births) can be explained by the exclusion of certain common and mild defects from ascertainment by the UBDN. Overall, rates for specific birth defects are similar to that observed in programs with similar operating methods (e.g., the California Birth Defects Monitoring Program, the Metropolitan Atlanta Congenital Defects Program) with a few differences. One difference is the rate of Down syndrome that is somewhat higher in Utah that in other parts of the US (see IBIS indicator on Down syndrome on this site), and that is consistent with the reproductive patterns in Utah whereby a comparatively higher proportion of pregnancies occur in the later childbearing years than in other states. A second difference is the high rate of cleft lip and palate, which currently exceeds 1 in 500 births, and is higher than in other parts of the US, for reasons that are yet unclear (see IBIS indicator on this topic on this site). A third difference is the marked decrease in rates of neural tube defects since the late 1980’s, which is a positive finding suggesting better knowledge and use of simple primary prevention strategies such as taking the B-vitamin folic acid before conception through early pregnancy (see IBIS indicator on this topic on this site).

What Is Being Done?

Since 1994, the Department of Health’s Utah Birth Defect Network (UBDN) has been committed to providing quality information for tracking, assessing, and preventing birth defects. As of 2005, the UBDN, in partnership with local and national organizations, is:
  1. tracking all major birth defects to assess trends, address community concerns, examine clustering, quantify morbidity and mortality;
  2. promoting and evaluating primary prevention of severe birth defects, including education campaigns among women and health care providers to promote the use of the B-vitamin folic acid to prevent spina bifida and other neural tube defects;
  3. for the causes of birth defects in collaboration with and with funding from the US Centers for Disease Control and Prevention (CDC).

The UBDN is also active nationally within the National Birth Defects Prevention Network (NBDPN), a non-profit organization involving birth defect programs and individuals working at the local, state and national level to raise awareness for birth defects. The NBDPN is committed to the progression of surveillance and research, to identify factors for prevention and assist families to minimize secondary disabilities prevention (for more information, see www.nbdpn.org)

Specific services for families of affected children from birth to three years of age are provided by the Utah Early Intervention Program, located within the Bureau of Children with Special Health Care Needs, Utah Department of Health. Services include child health assessment, service coordination among providers, programs and agencies, occupational and physical therapy, speech and language therapy. Information on these services is available at http://www.utahbabywatch.org

A further resource is the Utah Collaborative Medical Home, which is a project designed to provide information, tools and resources for Primary Care Physicians to enhance their ability to care for children with special health care needs. Information on the Utah Collaborative Medical Home is available at their web site : http://www.medhomeportal.org

Relevant Population Characteristics

The prevalence for all birth defects vary by race (figure) with Blacks the lowest at 14.28 per 1,000 births and whites the highest at 21.20 per 1,000 births. The overall percent is 12% in Hispanics which is slightly lower than the percent of live born infants of Hispanics women (13.3%) in the Utah population from 1999-2003. The percent of birth defects among whites was 83% compared to that of the 81.1% in the general population. Disparaties in prevalence by race are actually seen with specific birth defects (see specific IBIS indicators on this site).