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Age-specific variation in aneuploidy incidence among biochemical screening programs
A I Sokol1, R L Kramer, Y Yaron
1Department of Obstetrics and Gynecology, Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan, USA.
American Journal of Obstetrics and Gynecology
|October 28, 1998
Summary
This study found that observed Down syndrome incidence in screening programs was higher than expected, particularly for older mothers. The Cuckle model may underestimate Down syndrome risk in high-risk pregnancies.
Area of Science:
- Prenatal screening
- Genetics
- Maternal age
Background:
- Biochemical screening programs commonly use established age-related incidence rates for Down syndrome.
- Accurate incidence data is crucial for effective prenatal risk assessment.
Purpose of the Study:
- To compare observed age-related Down syndrome incidence in two large screening programs with commonly quoted incidences.
- To evaluate the accuracy of existing models for Down syndrome risk assessment.
Main Methods:
- Data from two large prenatal screening programs were analyzed.
- Observed Down syndrome incidence was stratified into 5-year age groups.
- Comparisons were made against the Cuckle model's reported incidences.
Main Results:
- No significant differences in Down syndrome incidence were observed for women aged 15-29.
- A trend towards higher incidence was noted in screening groups for women aged 30-34 and ≥40.
- Observed incidence was significantly greater in screening groups for women aged 35-39 compared to Cuckle's data.
Conclusions:
- The Cuckle model may underestimate Down syndrome risk, especially in older and high-risk patient groups.
- Observed incidences suggest a need to update risk assessment models.
- Accurate ascertainment of Down syndrome incidence is vital for prenatal screening effectiveness.