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Key Findings: Updated National Birth Prevalence Estimates for Selected Birth Defects in the United States, 2004-2006

The Centers for Disease Control and Prevention (CDC) and the National Birth Defects Prevention Network have published a new study updating the national prevalence estimates for selected birth defects in the United States from 2004-2006. You can read the abstract here. The findings from this article are summarized below.

Infant with cleft lip

About birth defects and this study:

Birth defects occur in about 3% of all live births. They are also a leading cause of infant death. Timely national estimates of the prevalence of birth defects help us:

  • Understand the how many people are affected by birth defects in the United States
  • Examine birth defect patterns and trends over time
  • Determine if prevention programs are working
  • Help communities plan for medical, developmental, and educational services

This CDC study used data from 14 birth defects tracking programs to look at the birth prevalence of birth defects in the United States from 2004-2006. Birth prevalence is the number of babies born with birth defects (including stillbirths and elective terminations) compared to the total number of live births in the population. For this study, researchers took into account maternal age (for Trisomy 13, 21, and 18) and maternal race/ethnicity, which allows state and local programs to use these estimates as a point of reference for comparison with future prevalence estimates. The data from these tracking systems were population-based, which means they looked at all babies born with birth defects who live in the tracking regions.

Main findings from this study include:

  • Down syndrome was the most common condition in this study. The estimated national prevalence was 14.47 per 10,000 live births. This means that there are about 6,000 diagnoses of Down syndrome each year in the United States.
  • About 7,000 babies are born with a cleft palate, cleft lip or both each year in the United States.
  • Common truncus, a type of heart defect, was the least common birth defect in this study. The estimated national prevalence was 0.72 per 10,000 live births. This means that there are about 300 cases of common truncus each year in the United States.
Adjusted National Prevalence Estimates and Estimated Number of Cases in the United States, 2004-2006*

Birth Defects

Cases per Births

Estimated Annual
Number of Cases

Estimated National Prevalence per 10,000 Live Births

Adjusted for maternal race/ethnicity**

   

Central nervous system defects

   

Anencephaly

1 in 4,859

859

2.06

Spina bifida without anencephaly

1 in 2,858

1460

3.50

Encephalocele

1 in 12,235

341

0.82

Eye defects

Anophthalmia/ microphthalmia

1 in 5,349

780

1.87

Cardiovascular defects

Common truncus

1 in 13,876

301

0.72

Transposition of great arteries

1 in 3,333

1252

3.00

Tetralogy of Fallot

1 in 2,518

1657

3.97

Atrioventricular septal defect

1 in 2,122

1966

4.71

Hypoplastic left heart syndrome

1 in 4,344

960

2.30

Orofacial defects

Cleft palate without cleft lip

1 in 1,574

2651

6.35

Cleft lip with and without cleft palate

1 in 940

4437

10.63

Gastrointestinal defects

Esophageal atresia/tracheoesophageal
fistula

1 in 4,608

905

2.17

Rectal and large intestinal
atresia/stenosis

1 in 2,138

1952

4.68

Musculoskeletal defects

Reduction deformity, upper limbs

1 in 2,869

1454

3.49

Reduction deformity, lower limbs

1 in 5,949

701

1.68

Gastroschisis

1 in 2,229

1871

4.49

Omphalocele

1 in 5,386

775

1.86

Diaphragmatic hernia

1 in 3,836

1088

2.61

    

Adjusted for maternal age**

   

Chromosomal anomalies

   

Trisomy 13

1 in 7,906

528

1.26

Trisomy 21 (Down syndrome)

1 in 691

6037

14.47

Trisomy 18

1 in 3,762

1109

2.66

*The 14 programs included in this table are 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.
**Adjustments are based on United States live birth population, 2004-2006.

More Information

For more information about birth defects, please visit the CDC’s birth defects webpage.

Reference

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. [Epub ahead of print]

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