First-trimester combined test and integrated tests for screening for Down syndrome and trisomy 18
- Geralyn M Messerlian, PhD
Geralyn M Messerlian, PhD
- Professor of Pathology & Laboratory Medicine
- Alpert Medical School of Brown University
- Antonio Farina, MD
Antonio Farina, MD
- Associate Professor of Obstetrics & Gynecology
- University of Bologna, Italy
- Glenn E Palomaki, PhD
Glenn E Palomaki, PhD
- Professor of Pathology and Laboratory Medicine
- Alpert Medical School of Brown University
First-trimester and integrated screening tests for Down syndrome and trisomy 18 will be reviewed here. Other aspects of Down syndrome screening are discussed separately:
A glossary of terms describing the various tests used in first- and second-trimester screening for Down syndrome is provided in the table (table 1).
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- FIRST-TRIMESTER COMBINED TEST
- Timing of blood sample and ultrasound
- - Beta-HCG
- - PAPP-A
- - Nuchal translucency
- OTHER FIRST-TRIMESTER SCREENING TESTS
- INTEGRATED TESTS
- Timing of blood samples and ultrasound
- Serum integrated test
- Step-wise sequential screening
- TEST PERFORMANCE
- The SURUSS trial
- The FASTER trial
- Screen-positive first-trimester combined test results
- Screen-positive integrated test results
- Screen-negative first-trimester or integrated test results
- Detection of structural anomalies
- DETECTION OF TRISOMY 18
- First-trimester combined test
- Integrated test
- Screen-positive trisomy 18 results
- DETECTION OF OTHER ANEUPLOIDIES
- PREDICTION OF ADVERSE PREGNANCY OUTCOME
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS