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Maternal serum screening in Ontario using the triple marker test
A M Summers1, S A Farrell, T Huang
1Clinical Geneticist, Genetics, North York General Hospital, Toronto, Ontario, Canada. asummers@nygh.on.ca
Journal of Medical Screening
|October 17, 2003
Summary
The Ontario maternal serum screening (MSS) programme effectively detected Down's syndrome, open neural tube defects, and trisomy 18. This large-scale second-trimester screening is a practical and valuable tool for prenatal diagnostics.
Area of Science:
- Prenatal diagnostics
- Maternal serum screening
- Population health
Background:
- The Ontario maternal serum screening (MSS) programme was established to provide large-scale prenatal screening.
- Screening occurs between 15 and 20 weeks of gestation.
Purpose of the Study:
- To summarize the operational experience of the Ontario MSS programme.
- To evaluate the performance of the MSS programme in detecting specific fetal aneuploidies and defects.
Main Methods:
- Utilized data from the Ontario MSS database (October 1993 - September 2000).
- Screened pregnancies for Down's syndrome (risk cut-off ≥1 in 385) and open neural tube defects (ONTD) (AFP ≥2.2 multiples of the median).
Main Results:
- Screened over 428,000 pregnancies for ONTD and over 423,000 for Down's syndrome and trisomy 18.
- Achieved a 70.6% detection rate (DR) for Down's syndrome with a 7.2% false-positive rate (FPR).
- Reported 72.7% DR for ONTD (2.0% FPR) and 50% DR for trisomy 18 (0.2% FPR).
Conclusions:
- The Ontario MSS programme performed as expected, demonstrating effectiveness in detecting Down's syndrome, ONTD, and trisomy 18.
- MSS is a practical and effective method for second-trimester screening in large populations.
- The MSS database serves as a crucial tool for ongoing performance monitoring.
