Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 2 , Pages 157-162, June 2008

First- and Second-trimester Down Syndrome Screening: Current Strategies and Clinical Guidelines

  • Sheng-Wen Shaw

      Affiliations

    • Department of Obstetrics and Gynecology, Chang Cung Memorial Hospital, Linkou Medical Center, Taipei, Taiwan
    • Chang Cung University College of Medicine, Taoyuan, Taipei, Taiwan
    • ,
  • Jenn-Jeih Hsu

      Affiliations

    • Chang Cung University College of Medicine, Taoyuan, Taipei, Taiwan
    • Department of Obstetrics and Gynecology, Chang CungMemorial Hospital, Taipei, Taiwan
    • ,
  • Chien-Nan Lee

      Affiliations

    • Department Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan
    • ,
  • Ching-Hua Hsiao

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei City Hospital, Branch for Women and Children, Taipei, Taiwan
    • ,
  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    • ,
  • T'sang-T'ang Hsieh

      Affiliations

    • Chang Cung University College of Medicine, Taoyuan, Taipei, Taiwan
    • Department of Obstetrics and Gynecology, Chang CungMemorial Hospital, Taipei, Taiwan
    • ,
  • Po-Jen Cheng

      Affiliations

    • Department of Obstetrics and Gynecology, Chang Cung Memorial Hospital, Linkou Medical Center, Taipei, Taiwan
    • Chang Cung University College of Medicine, Taoyuan, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Po-Jen Cheng, Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, 5, Fu-Shin Street, Taoyuan 333, Taiwan

Accepted 10 April 2008.

Article Outline

Summary 

Down syndrome (DS) is the most common human disease caused by a structural chromosome defect. The original screening test for DS was maternal age or a history of a previously affected infant. Maternal serum screening has been incorporated into routine prenatal checkup in Taiwan since 1994. We used free β-human chorionic gonadotropin and α-fetoprotein (double test) as the serum markers, and this was carried out between the 15 to 20th week of gestation. The overall detection rate was 56% and was compatible with studies of Caucasian populations. The impact of double tests in Taiwan has shown itself by a dramatic lowering of the rate of DS live birth from 0.63 before screening to 0.16 per 1,000 live births at present. However, because of its relatively low detection rate and poor cost-effectiveness, the double test is not justified as a routine screening tool currently. First-trimester combined test is now becoming more widely available and provides increased sensitivity when detecting DS; it has a detection rate of approximately 85% with a false-positive rate of 5%. Nuchal translucency measurement requires ongoing quality control and sufficient certificated obstetricians; therefore, first-trimester ultrasound is limited only in designated centers. The quadruple test, having comparable detection rate, should be considered for incorporation into second-trimester screening in Taiwan in the near future. Other screening approaches and combinations have also been utilized in the Western countries. In this review, we outline the various options with respect to DS screening and hope that this will provide practical information for physicians offering such screenings. [Taiwan J Obstet Cynecol 2008;47(2):157-1 62]

Key Words:  Down syndrome , first trimester , prenatal screening , second trimester

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PII: S1028-4559(08)60073-X

doi:10.1016/S1028-4559(08)60073-X

Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 2 , Pages 157-162, June 2008

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