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Fetal humeral length to detect Down syndrome

  • Author Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Siegfried Rotmensch
    Correspondence
    Reprint requests: Siegfried Rotmensch, MD, Department of Obstetrics and Gynecology, Yale University School of Medicine, 333 Cedar St., P.O. 3333, New Haven, CT 06510-8063.
    Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Affiliations
    New Haven, Connecticut
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  • Author Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Jia-Sen Luo
    Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Affiliations
    New Haven, Connecticut
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  • Author Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Marco Liberati
    Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Affiliations
    New Haven, Connecticut
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  • Author Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Kathleen Belanger
    Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Affiliations
    New Haven, Connecticut
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  • Author Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Maurice J. Mahoney
    Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Affiliations
    New Haven, Connecticut
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  • Author Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    John C. Hobbins
    Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
    Affiliations
    New Haven, Connecticut
    Search for articles by this author
  • Author Footnotes
    1 From the Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the Department of Human Genetics, and the Department of Perinatal Epidemiology, Yale University School of Medicine.
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      Objective: Our aim was to evaluate the utility of ultrasonographic humeral length measurements for detection of fetuses with Down syndrome in the midtrimester of gestation.
      Study Design: Ultrasonographic biometry data obtained before genetic amniocenteses on 43 fetuses with Down syndrome and 204 randomly chosen normal fetuses were analyzed. Regression equations relating biparietal diameter to humeral length and femoral length were used to calculate ratios of observed-to-expected length and sensitivity and specificity at various cutoff points.
      Results: Humeral length in Down syndrome fetuses was significantly shorter than in normal controls (p < 0.001). A ratio of 0.90 for observed/expected humeral length yielded a sensitivity of 28%, a specificity of 91%, and positive predictive values of 1.23% and 0.41% in populations at risk for Down syndrome of 1 in 250 and 1 in 750, respectively. The equivalent ratio for femoral length yielded a sensitivity of 19%, a specificity of 91%, and positive predictive values of 0.87% and 0.28% for baseline risks of 1 in 250 and 1 in 750, respectively.
      Conclusions: The sensitivity of fetal humeral length measurements for Down syndrome detection in our hands was remarkably lower than previously reported. Independence of this parameter from currently used serum screening markers has not been established; therefore implementation in screening programs is not advisable at this point.

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