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Child Health USA 2013 An illustrated collection of current and historical data, published annually.

Birth Defects

Narrative

Birth defects occur in approximately 3 percent of all live births and are the leading cause of infant mortality, accounting for approximately 20 percent of all infant deaths in the United States in 2009.1,2 Birth defects are conditions present at birth that cause structural changes in one or more parts of the body.3 Birth defects develop before a baby is born and generally occur during the first trimester of pregnancy.

Although the causes of most birth defects are unknown, birth defects are thought to be caused by a combination of genetic, behavioral, and environmental factors. Some factors that have been linked to birth defects include: tobacco, alcohol and illicit drug use during pregnancy; uncontrolled medical conditions such as diabetes and obesity; use of some medications during pregnancy; maternal age younger than 20 and over 35 years; a family history of birth defects; and inadequate levels of folic acid (a B vitamin used by our bodies to make new cells) before and during pregnancy.4 Taking folic acid before becoming pregnant has been shown to reduce the risk for neural tube defects by 50-70 percent.5

Congenital heart defects are the most common type of birth defect in the United States, affecting nearly 1% of—or about 40,000—births per year.6 Trisomy 21, or Down syndrome, is a common birth defect with an estimated 6,000 cases identified annually.7 Orofacial clefts, including cleft lip and cleft palate, are another common type of birth defect with approximately 7,000 cases identified annually.8

Screening tests that can identify some birth defects can be administered during both the first and second trimesters of pregnancy and may include blood tests, ultrasounds and/or testing of the placenta or amniotic fluid. Screening healthy newborns using pulse oximetry can be a useful and cost-effective way to identify babies born with critical congenital heart defects before they are discharged from the birth hospital.9 Although the survival of babies and children with birth defects has been improving, racial and socioeconomic disparities in the survival of these individuals with very special health care needs still persist.10,11

1 Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A; for the National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010 Sep 28.

2 Hoyert DL, Xu JQ. Deaths: Preliminary data for 2011. National vital statistics reports; vol 61 no 6. Hyattsville, MD: National Center for Health Statistics. 2012. Accessed: 08/02/13.

3 Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities. Facts about Birth Defects. Accessed: 08/01/13.

4 Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities. Facts about Folic Acid. Accessed: 08/01/13.

5 Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities. Facts about Folic Acid. Accessed: 08/01/13.

6 Reller MD, Strickland MJ, Riehle-Colarusso T, Mahle WT, Correa A. Prevalence of congenital heart defects in Atlanta, 1998-2005. J Pediatrics 2008;153:807-813.

7 Hoyert DL, Xu JQ. Deaths: Preliminary data for 2011. National vital statistics reports; vol 61 no 6. Hyattsville, MD: National Center for Health Statistics. 2012. Accessed: 08/02/13.

8 Hoyert DL, Xu JQ. Deaths: Preliminary data for 2011. National vital statistics reports; vol 61 no 6. Hyattsville, MD: National Center for Health Statistics. 2012. Accessed: 08/02/13.

9 Peterson, C, Grosse SD, Oster ME, Olney RS, Cassell CH. Cost-Effectiveness of Routine Screening for Critical Congenital Heart Disease in U.S. Newborns. Pediatrics. 2013.

10 Kucik JE, Shin M, Siffel C, Marengo L, Correa A; Congenital Anomaly Multistate Prevalence and Survival Collaborative. Pediatrics. 2013 Jan;131(1)Le27-36. doi:10.1542/peds.2012-1616. Epub 2012 Dec 17.

11 Shin M, Kucik JE, Siffel C, Lu C, Shaw GM, Canfield MA, Correa A. Improved survival among children with spina bifida in the U.S. J Pediatr. 2012 Dec;161(6):1132- 7. doi:10.1016/j.jpeds.2012.05.040. Epub 2012 Jun 23.

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Graphs

This image is described in the Data section.

Selected Birth Defects table

Data

Selected Birth Defects, 2004-2006*
Birth Defect Birth Defect Category** Cases per Births Estimated Annual Number of Cases Prevalence per 10,000 Live Births
*14 programs contributed data: Arkansas, Arizona, California [8-county Central Valley], Colorado, Georgia [5-county metropolitan Atlanta], Illinois, Iowa, Kentucky, Massachusetts, North Carolina, Oklahoma, Puerto Rico, Texas, and Utah. The number of live births represented by these 14 programs from 2004-2006 was 4,038,506.
**Chromosomal anomalies estimates were adjusted for maternal age, and neural tube defects estimates were adjusted for maternal race/ethnicity.
Source: Adapted from Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A; for the National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010 Sep 28. Accessed: 08/01/13.
Trisomy 21 (Down Syndrome) Chromosomal Anomalies 1 in 691 6,037 14.47
Trisomy 18 Chromosomal Anomalies 1 in 3,762 1,109 2.66
Trisomy 13 Chromosomal Anomalies 1 in 7,906 528 1.26
Spina Bifida without Anencephaly Neural Tube Defects 1 in 2,858 1,460 3.50
Anencephaly Neural Tube Defects 1 in 4,859 859 2.06
Encephalocele Neural Tube Defects 1 in 12,235 341 0.82
Cleft Lip with and without Cleft Palate Orofacial Defects 1 in 940 4,437 10.63
Cleft Palate without Cleft Lip Orofacial Defects 1 in 1,574 2,651 6.35
Atrioventricular Septal Defect Orofacial Defects 1 in 2,122 1,966 4.71
Tetralogy of Fallot Orofacial Defects 1 in 2,518 1,657 3.97
Transposition of Great Arteries Orofacial Defects 1 in 3,333 1,252 3.00
Hypoplastic Left Heart Syndrome Orofacial Defects 1 in 4,344 960 2.30
Common Truncus Orofacial Defects 1 in 13,876 301 0.72