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Recent advances in maternal serum screening for Down syndrome
Geralyn M Messerlian1, Jacob A Canick
1Division of Prenatal and Special Testing, Department of Pathology and Laboratory Medicine, Women & Infants' Hospital, Providence, RI 02903, USA. GMesserl@wihri.org
Medicine and Health, Rhode Island
|February 21, 2003
Summary
Prenatal screening for Down syndrome has improved significantly with new serum markers and combined first-trimester screening. Future advancements promise nearly 90% detection rates, reducing the need for invasive procedures.
Area of Science:
- Prenatal diagnostics
- Biochemical screening
- Genetics
Background:
- Serum markers have improved Down syndrome identification for 15 years.
- The 1990s saw advancements like adding inhibin A and combined first-trimester screening.
- Current methods enhance the ability to identify affected pregnancies.
Purpose of the Study:
- To review the evolution of Down syndrome prenatal screening.
- To highlight the impact of serum markers and combined screening.
- To discuss upcoming breakthroughs in prenatal Down syndrome detection.
Main Methods:
- Review of incremental improvements in screening protocols over 15 years.
- Implementation of biochemical markers (e.g., inhibin A) in second-trimester screening.
- Development and integration of combined first-trimester serum and ultrasound screening.
Main Results:
- Enhanced identification of Down syndrome pregnancies through serum markers.
- Improved screening performance with combined first-trimester approaches.
- Anticipation of near 90% detection rates with new methods.
Conclusions:
- Serum markers and combined screening represent significant progress in prenatal diagnostics.
- Future screening technologies are poised to dramatically reduce the need for invasive diagnostic procedures like amniocentesis and CVS.
- The field is approaching a major breakthrough in Down syndrome prenatal screening accuracy and safety.