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Orofacial clefts in the National Birth Defects Prevention Study, 1997–2004§

Authors

  • Alicia E. Genisca,

    1. The CDC Experience Fellowship, Centers for Disease Control and Prevention, Atlanta, Georgia
    2. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • Jaime L. Frías,

    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
    2. McKing Consulting Corporation, Fairfax, Virginia
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  • Cheryl S. Broussard,

    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
    2. Epidemic Intelligence Service, Career Development Division, Office of Workforce and Career Development, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • Margaret A. Honein,

    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • Edward J. Lammer,

    1. Children's Hospital Oakland Research Institute, Oakland, California
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  • Cynthia A. Moore,

    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • Gary M. Shaw,

    1. March of Dimes, California Research Division, Oakland, California
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  • Jeffrey C. Murray,

    1. Department of Pediatrics, University of Iowa, Iowa City, Iowa
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  • Wei Yang,

    1. March of Dimes, California Research Division, Oakland, California
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  • Sonja A. Rasmussen

    Corresponding author
    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
    • Centers for Disease Control and Prevention, 1600 Clifton Road NE, MS E-86, Atlanta, GA 30333.
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  • The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention.

  • This article is a US Government work and, as such, is in the public domain in the United States of America.

  • §

    How to cite this article: Genisca AE, Frías JL, Broussard CS, Honein MA, Lammer EJ, Moore CA, Shaw GM, Murray JC, Yang W, Rasmussen SA, National Birth Defects Prevention Study. 2009. Orofacial clefts in the National Birth Defects Prevention Study, 1997–2004. Am J Med Genet Part A 149A:1149–1158.

Abstract

Orofacial clefts are among the most common types of birth defects, but their clinical presentation has not been well described in a geographically diverse US population. To describe the birth prevalence and phenotype of nonsyndromic clefts, we used data from the National Birth Defects Prevention Study (NBDPS), a multi-site, population-based, case-control study aimed at identifying genetic and environmental risk factors for birth defects. Included in the study were infants born during 1997–2004 with a cleft lip (CL), cleft lip with cleft palate (CLP), or cleft palate (CP). Infants with clefts associated with recognized single-gene disorders, chromosome abnormalities, holoprosencephaly, or amniotic band sequence were excluded. A total of 3,344 infants with nonsyndromic orofacial clefts were identified, including 751 with CL, 1,399 with CLP, and 1,194 with CP, giving birth prevalence estimates of 0.3, 0.5, and 0.4/1,000 live births, respectively. Among infants with CLP where cleft laterality was specified, about twice as many had unilateral vs. bilateral involvement, while for CL there were over 10 times as many with unilateral versus bilateral involvement. Involvement was most often left-sided. About one-quarter of infants with CP had Pierre Robin sequence. Over 80% of infants had an isolated orofacial cleft. Among infants with CL or CLP, heart, limb, and other musculoskeletal defects were most commonly observed, while heart, limb, and central nervous system defects were most common among infants with CP. Better understanding of the birth prevalence and phenotype may help guide clinical care as well as contribute to an improved understanding of pathogenesis. Published 2009 Wiley-Liss, Inc.

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