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Screening for Down's syndrome based on individual risk.

M Lewis1, M J Faed, P W Howie

  • 1Ninewells Hospital and Medical School, University of Dundee.

BMJ (Clinical Research Ed.)
|September 7, 1991
PubMed
Summary
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Biochemical screening for Down's syndrome risk in individual pregnancies is effective. This method identifies more cases than traditional screening, using resources more efficiently.

Area of Science:

  • Prenatal diagnostics
  • Biochemical screening
  • Genetics

Background:

  • Traditional Down's syndrome screening relies on maternal age and genetic history.
  • Biochemical markers like chorionic gonadotrophin and alpha fetoprotein offer additional data.
  • Accurate gestational dating is crucial for reliable screening results.

Purpose of the Study:

  • To assess the effectiveness of individual biochemical screening for Down's syndrome risk.
  • To compare biochemical screening with traditional methods based on maternal age and genetics.
  • To evaluate resource utilization and detection rates for Down's syndrome.

Main Methods:

  • Retrospective analysis of 3436 pregnancies screened for neural tube defects.
  • Individual risk calculation using maternal age, serum chorionic gonadotrophin, and alpha fetoprotein levels.

Related Experiment Videos

  • Comparison of screening outcomes with karyotype results and pregnancy outcomes.

    • Main Results:

    • Biochemical screening detected 5 out of 8 Down's syndrome cases, with a 73% detection rate.
    • This approach required screening 6.3% of pregnancies, a more efficient use of resources compared to age-based screening.
    • Effectiveness was noted particularly for women over 35 years of age.

    Conclusions:

    • Individual biochemical screening for Down's syndrome is more resource-effective than maternal age and genetic history alone.
    • This method maintains or improves detection rates, especially for older pregnant individuals.
    • Optimized screening strategies can enhance prenatal care for Down's syndrome.