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Ethnic-specific reference range affects the efficacy of quadruple test as a universal screening for Down syndrome in a developing country.

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  • Additional Information
    • Source:
      Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
    • Publication Information:
      Original Publication: San Francisco, CA : Public Library of Science
    • Subject Terms:
      Down Syndrome/*diagnosis ; Ethnicity/*genetics ; Prenatal Diagnosis/*methods; Asian People/genetics ; Biomarkers/blood ; Chorionic Gonadotropin, beta Subunit, Human/blood ; Developing Countries ; Down Syndrome/blood ; Estriol/blood ; Female ; Humans ; Inhibins/blood ; Pregnancy ; Pregnancy Trimester, Second ; Pregnant Women ; Prenatal Diagnosis/statistics & numerical data ; Reference Values ; Thailand ; White People/genetics ; alpha-Fetoproteins/analysis
    • Abstract:
      Objective: To evaluate the efficacy of the quadruple test for potential use as a Thai national policy for Down syndrome (DS) screening and establish an accurate equation for risk estimation of Down syndrome based on gestational age, weight and the ethnic-specific reference range of our population.
      Methods: A prospective study was conducted on singleton pregnancies at 14 to 21 weeks of gestation to evaluate the efficacy of quadruple DS screening using the automatically calculated Western European descent factor (WF) in our population and the impact of screening using a specific Thai ethnic factor as well as to establish an equation for the risk estimation of DS based on gestational age, weight and a local Thai ethnic factor to correct for the impact of ethnic factor on the screening efficacy.
      Results: Of a total of 5,515 women, 12 cases of DS and 8 cases of other aneuploidies were found. The detection rate, false positive rate and specificity were 75.0%, 9.1% and 90.9%, respectively, by automatic calculation with the widely used WF; the screening efficacy was lower when used in Asian populations than in other studies. The best-fitted regression equation of serum quadruple screening of AFP, free β-hCG, uE3 and inhibin A was established by adjustment for gestational age (GA) in days, maternal weight and our Thai-specific ethnic reference range which was created for this study. Calculations with our Thai-specific ethnic model gave a better detection rate of 83.3%, a false positive rate of 9.6% and specificity of 90.4%.
      Conclusion: The serum quadruple test had a lower detection rate than expected when the risk estimation was based on the WF reference range. The serum quadruple test using WF had significantly different levels when corrected with our ethnic-specific factor. Using our local ethnic specific model could increase the detection rate of DS screening in Thailand with a minimal increase in false positive rates. Our findings indicate that DS screening should be adjusted with an appropriate individual ethnic factor when used for national screening.
      Competing Interests: The authors have declared that no competing interests exist.
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    • Accession Number:
      0 (Biomarkers)
      0 (Chorionic Gonadotropin, beta Subunit, Human)
      0 (alpha-Fetoproteins)
      0 (inhibin A)
      57285-09-3 (Inhibins)
      FB33469R8E (Estriol)
    • Publication Date:
      Date Created: 20210513 Date Completed: 20211028 Latest Revision: 20221207
    • Publication Date:
      20221213
    • Accession Number:
      PMC8118253
    • Accession Number:
      10.1371/journal.pone.0251381
    • Accession Number:
      33984018