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Prenatal Screening Markers for Down Syndrome: Sensitivity, Specificity, Positive and Negative Expected Value Method
Jasmina Durković1, Milan Ubavić2, Milica Durković3
1Department of Genetics, Hospital Subotica, Subotica, Serbia.
This study evaluated prenatal screening markers for chromosomopathy. Combining pregnancy associated plasma protein-A (PAPP-A), free human chorionic gonadotropin (free-beta HCG), and nuchal translucency (NT) improves Down syndrome risk assessment.
Area of Science:
- Obstetrics and Gynecology
- Medical Genetics
- Biochemistry
Background:
- First-trimester genetic screening for chromosomopathy relies on fetal nuchal translucency (NT) and maternal serum biomarkers: pregnancy associated plasma protein-A (PAPP-A) and free human chorionic gonadotropin (free-beta HCG).
Purpose of the Study:
- To evaluate the sensitivity, specificity, and predictive values of NT, PAPP-A, and free-beta HCG for prenatal screening.
- To establish an optimized model for prenatal screening readings.
Main Methods:
- Statistical analysis of data from 340 pregnant women with positive prenatal screening results.
- Testing the diagnostic performance (sensitivity, specificity, positive and negative expected values) of individual markers.
Main Results:
- Nuchal translucency (NT) demonstrated high specificity (97.18%) but low sensitivity (17.85%).
- Biochemical markers PAPP-A and free-beta HCG showed higher sensitivity (62.50% and 58.93%, respectively) but lower specificity (51.06% and 52.46%).
- Positive predictive values were 55.56% for NT, 20.11% for PAPP-A, and 19.64% for free-beta HCG.
Conclusions:
- A software-based approach is crucial for integrating PAPP-A and free-beta HCG to assess biochemical risk.
- Incorporating NT measurements with biochemical markers allows for a more accurate calculation of the final Down syndrome risk.
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