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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
Summary
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.
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.