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Integrated serum screening for Down syndrome in primary obstetric practice.
George J Knight1, Glenn E Palomaki, Louis M Neveux
1Foundation for Blood Research, Scarborough, Maine, USA. GKnight@ipmms.org
Prenatal Diagnosis
|October 19, 2005
Summary
Integrated serum screening for Down syndrome, using five markers, effectively detected 87% of cases in a primary care setting. This method offers an accessible alternative to nuchal translucency screening.
Area of Science:
- Prenatal diagnostics
- Maternal serum screening
- Genetics
Background:
- Current second-trimester screening for Down syndrome has limitations.
- Integrated serum screening offers potential for improved effectiveness.
- Implementation in primary care settings is key for accessibility.
Purpose of the Study:
- To evaluate the effectiveness of integrated serum screening for Down syndrome in a real-world primary care setting.
- To assess the feasibility and performance of a multi-marker screening protocol.
- To compare integrated screening with existing second-trimester methods.
Main Methods:
- A prospective intervention trial involving 229 primary care practitioners.
- Collected first-trimester serum for PAPP-A and second-trimester serum for AFP, uE3, hCG, and DIA.
- Calculated Down syndrome risk using five markers; managed screen-positive cases (risk >= 1:100) per standard practice.
Main Results:
- 11,159 women provided first-trimester samples; 8,773 met criteria for both trimesters.
- Detected 14 of 16 Down syndrome cases (87% detection rate; 79% adjusted).
- Achieved a 3.2% false-positive rate (2.7% with ultrasound dating), outperforming second-trimester marker combinations. Implementation challenges noted.
Conclusions:
- Successfully implemented integrated serum screening in primary care, meeting performance predictions.
- Demonstrated an accessible and acceptable alternative to nuchal translucency screening.
- Highlights the potential of multi-marker integrated screening in routine prenatal care.