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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Stepwise sequential screening for fetal aneuploidy.
Peter A Benn1, Winston A Campbell, Carolyn M Zelop
1Division of Human Genetics, Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT, USA.
American Journal of Obstetrics and Gynecology
|September 11, 2007
Summary
Stepwise sequential screening for fetal aneuploidy effectively identifies chromosome abnormalities and reduces invasive testing. This method improves accuracy and patient outcomes in prenatal screening.
Area of Science:
- Prenatal diagnostics
- Genetics
- Maternal-fetal medicine
Background:
- Fetal aneuploidy screening is crucial for prenatal care.
- First-trimester screening offers early detection but has limitations.
- Sequential screening combines first and second-trimester data for improved accuracy.
Purpose of the Study:
- To evaluate the effectiveness of stepwise sequential screening for fetal aneuploidy.
- To assess the impact of sequential screening on invasive testing rates.
- To determine the sensitivity and risk reduction associated with this screening approach.
Main Methods:
- A cohort of 1528 women undergoing first-trimester screening was analyzed.
- Second-trimester screening was offered to women, with risk assessment based on both trimesters.
- Screen-positive rates, use of invasive testing, and diagnostic sensitivity were evaluated.
Main Results:
- Sequential screening reduced the need for invasive testing from 8.7% to 6.9%.
- In unaffected pregnancies, Down syndrome risk decreased from 1:2368 to 1:10,301.
- The sensitivity of sequential screening identified 90% of chromosome abnormalities, compared to 60% with first-trimester screening alone.
Conclusions:
- Stepwise sequential screening is a successful and effective clinical practice.
- This method significantly reduces the number of unnecessary invasive tests.
- Sequential screening enhances the accuracy of fetal aneuploidy detection.
