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
- Associate 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