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Related Experiment Videos

Antenatal screening for Down syndrome

N J Wald1

  • 1Department of Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Medical College of St. Bartholomew's Hospital, London.

Progress in Clinical and Biological Research
|January 1, 1995
PubMed
Summary
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Antenatal screening for Down syndrome has evolved significantly. Modern methods, including serum screening and maternal age, now identify over 60% of affected pregnancies, improving early diagnosis.

Area of Science:

  • Medical screening
  • Prenatal diagnostics
  • Genetics

Background:

  • Antenatal screening for Down syndrome has been available for 25 years.
  • Limitations of early screening included risks and costs of diagnostic procedures, restricting use to high-risk pregnancies.
  • Initial screening relied solely on maternal age.

Purpose of the Study:

  • To review the evolution and advancements in antenatal screening for Down syndrome.
  • To highlight improvements in screening performance and ongoing research.
  • To emphasize the importance of service quality alongside technical improvements.

Main Methods:

  • Maternal age as an initial screening parameter.
  • Introduction of antenatal serum screening with biochemical markers in 1988.

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  • Ongoing research combining serum, ultrasound markers, and earlier screening.

    • Main Results:

    • Antenatal serum screening combined with maternal age improved detection rates significantly.
    • The proportion of affected pregnancies identified in the highest-risk 5% increased from approximately 30% to over 60%.
    • Current research aims to further enhance screening performance.

    Conclusions:

    • Advancements in screening methods have substantially improved Down syndrome detection.
    • Continued refinement of screening techniques and focus on service quality are crucial.
    • Ensuring public satisfaction with antenatal screening services is essential.