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Extended first-trimester screening using multiple sonographic markers and maternal serum biochemistry: a five-year
Ching-Hua Hsiao1, Po-Jen Cheng, S W Steven Shaw
1Department of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, Taipei, Taiwan, ROC.
Fetal Diagnosis and Therapy
|February 8, 2014
Summary
Adding more ultrasound markers to first-trimester screening significantly improves the detection of major aneuploidies like trisomy 21, while reducing false positives in the Chinese population.
Area of Science:
- Prenatal diagnosis
- Maternal-fetal medicine
- Genetics
Background:
- First-trimester screening is crucial for detecting fetal aneuploidies.
- Combining biochemical and sonographic markers enhances screening accuracy.
Purpose of the Study:
- To evaluate the performance of a first-trimester screening test for major aneuploidies in a Chinese population.
- To assess the impact of incorporating additional sonographic markers on detection rates and false-positive rates.
Main Methods:
- Prospective study of 20,586 cases in Taiwan (2005-2010).
- Assessed maternal serum markers (β-hCG, PAPP-A) and various fetal sonographic markers (nuchal translucency, nasal bone, tricuspid regurgitation, ductus venosus).
- Used Fetal Medicine Foundation algorithm for risk calculation; karyotyping for high-risk cases (≥1/300).
Main Results:
- Combining maternal biochemistry and nuchal translucency detected 66.7% of trisomy 21 cases.
- Adding nasal bone status increased trisomy 21 detection to 88.2%.
- Including tricuspid regurgitation and ductus venosus flow achieved 100% detection of trisomy 21 with reduced false-positive rates.
Conclusions:
- Incorporating multiple sonographic markers into first-trimester screening significantly enhances sensitivity for chromosomal abnormalities.
- This comprehensive screening strategy is effective and clinically applicable for the Chinese ethnic population.
- The study demonstrates improved detection rates and decreased false-positive rates with extended marker inclusion.
