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[Prenatal screening for Down's syndrome: a simplified method]

P Cavalli1, G Zacchè, S Montagna

  • 1Sezione Citogenetica, Ospedale di Cremona.

Minerva Ginecologica
|September 1, 1993
PubMed
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This study introduces a simplified method for prenatal screening of Down's syndrome (DS) using maternal serum markers. The new approach offers a practical alternative to complex computer-assisted analysis, balancing detection and false positive rates.

Area of Science:

  • Biochemistry
  • Genetics
  • Medical Diagnostics

Background:

  • Prenatal screening for Down's syndrome (DS) typically combines maternal age and serum markers (AFP, HCG, uE3) using computer analysis.
  • Current methods face practical application challenges in Italy due to cultural and organizational factors.

Purpose of the Study:

  • To propose and evaluate a simplified technical approach for prenatal Down's syndrome screening.
  • To assess a method multiplying age-specific risk by the HCG/AFP likelihood ratio, suitable for simpler calculations.

Main Methods:

  • Developed a method multiplying age-specific risk by the HCG/AFP likelihood ratio.
  • Utilized automated Enzyme-Linked Immunosorbent Assay (Elisa) for HCG and AFP testing.
  • Compared the new method with a modified Wald test on approximately 100 pregnancies.

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Main Results:

  • The automated HCG and AFP Elisa testing with Crossley statistical calculation showed a higher False Positive Rate compared to the modified Wald test.
  • No significant difference in Detection Rate was observed between the two methods.
  • A retrospective analysis correctly identified 5 affected pregnancies using both methods.

Conclusions:

  • The choice between screening methods depends on local resources, considering ease of performance, sensitivity, and specificity.
  • The proposed method offers a potentially more accessible alternative for Down's syndrome screening.
  • Both methods demonstrated effectiveness in identifying affected pregnancies, despite differing false positive rates.