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Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968–2005

Authors

  • Jodi M. Jackson,

    Corresponding author
    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
    • 1600 Clifton Road, MS E-86, Atlanta, Georgia, 30333.
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  • Krista S. Crider,

    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • Sonja A. Rasmussen,

    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • Janet D. Cragan,

    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • Richard S. Olney

    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • The findings and conclusions in this report are those of the author and do not necessarily represent the official position of the Centers for Disease Control and Prevention.

  • How to Cite this Article: Jackson JM, Crider KS, Rasmussen SA, Cragan JD, Olney RS. 2012. Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968–2005. Am J Med Genet Part A 158A:116–123.

Abstract

The purpose of this study was to examine changes in the use of cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects. Utilizing data from 1968 to 2005 from the Metropolitan Atlanta Congenital Defects Program, we analyzed trends in the frequency and timing (prenatal or postnatal) of cytogenetic testing and the prevalence of recognized chromosome abnormalities among pregnancies and children with birth defects (n = 51,424). Cytogenetic testing of pregnancies and children with birth defects increased from 7.2% in 1968 to 25.0% in 2005, as did the identification of chromosomal abnormalities (2.2% in 1968 to 6.8% in 2005). The use of prenatal cytogenetic testing decreased from 1996 to 2005 among women aged ≥35 years. Identification of chromosomal abnormalities in pregnancies and children with birth defects increased from 1968 to 2005, possibly due to increased testing, improved diagnostic techniques, or increasing maternal age. The decline in prenatal cytogenetic testing observed among mothers aged ≥35 years may be related to the availability of improved prenatal screening techniques, resulting in a reduction in the utilization of invasive diagnostic tests. Published 2011. This article is a U.S. Government work and is in the public domain in the USA.

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