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Birth Defects Home > Research > Key Findings > National Estimates of and Racial and Ethnic Variations Among Selected Birth Defects
National Estimates of and Racial and Ethnic Variations Among Selected Birth Defects

Birth defects affect about 3% of all U.S. births. They are a leading cause of infant death and childhood disease and disability.

This study looked at 21 birth defects for 1999–2001. National prevalence was estimated for each defect by pooling data from 11 states with active case-finding and adjusting for the racial and ethnic distributions of U.S. livebirths

  • CDC researchers and colleagues estimated the prevalence of selected birth defects in the United States and assessed racial and ethnic differences in those defects.
  • The study also assessed racial and ethnic variations in the selected birth defects.
  • National estimates from 1999–2001 ranged from 329 cases of truncus arteriosus (a heart defect) each year to 5,429 cases of Down syndrome each year.
  • Many variations by race and ethnicity were found. Compared with infants of non-Hispanic white mothers:
    • Infants of non-Hispanic black or African-American mothers had a significantly higher birth prevalence of tetralogy of Fallot, lower limb reduction defects, and trisomy 18. Prevalence was significantly lower for cleft palate, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, gastroschisis, and Down syndrome (DS).
    • Infants of Hispanic mothers had a significantly higher birth prevalence of anencephalus, spina bifida, encephalocele, gastroschisis, andDS. Prevalence was significantly lower for tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and esophageal atresia or tracheoesophageal fistula.
  • This study can be used to evaluate individual state surveillance data, and to help plan for public health and educational services. It also provides valuable data on racial and ethnic patterns of selected major birth defects.
  • Data used for this study were from the National Birth Defects Prevention Network (NBDPN), which collects state-level data on the occurrence of 45 categories of major birth defects from 35 U.S. surveillance programs.

Estimated annual number of cases in the United States of selected birth defects based on data from 11 states with active surveillance systems.

Adjusted for Maternal Race or Ethnicity

 

Estimated
Annual
Number of
Cases

Central nervous system defects

 

     Anencephalus

1,009

     Spina bifida without anencephalus

1,477

     Encephalocele

376

 

 

Eye defects

 

     Anophthalmia or microphthalmia

834

 

 

Cardiovascular defects

 

     Truncus arteriosus (also known as common truncus)

329

     Transposition of great arteries

1,901

     Tetralogy of Fallot

1,574

     Atrioventricular septal defect (also known as endocardial cushion defect)

1,748

     Hypoplastic left heart syndrome

975

 

 

Orofacial defects

 

     Cleft palate without cleft lip

2,567

     Cleft lip with or without cleft palate

4,209

 

 

Gastrointestinal defects

 

     Esophageal atresia/ tracheosophageal fistula

952

     Rectal and large intestinal atresia or stenosis

1,931

 

 

Musculoskeletal defects

 

     Reduction defect, upper limbs

1,521

     Reduction defect, lower limbs

763

     Gastroschisis

1,497

     Omphalocele

839

     Diaphragmatic hernia

1,179

 

 

Chromosomal defects

 

     Down syndrome (trisomy 21)

5,132

     Trisomy 13

526

     Trisomy 18

930

 

 

 

Estimated
Annual
No. of
Cases

Chromosomal defects

 

     Down syndrome (trisomy 21)

5,429

     Trisomy 13

528

     Trisomy 18

959

Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS, et al. National Estimates and Race/Ethnic-Specific Variation of Selected Birth Defects in the United States, 1999-2001. Birth Defects Res Part A Clin Mol Teratol. 2006 Nov;76(11):747–56.

Date: January 14, 2008
Content source: National Center on Birth Defects and Developmental Disabilities

 

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