Related Experiment Video
Updated: Jul 3, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Improved prenatal aneuploidy screening using the novel advanced first-trimester screening algorithm: a multicenter
Peter Schmidt1, Cindy Hörmansdörfer, Michael Pruggmayer
1Department of Obstetrics and Gynecology, Medical University of Hannover, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.
Purpose:
: It has been postulated that the maternal age component should be completely excluded from first-trimester screening (FTS) for fetal aneuploidies. In this study, we tested a new algorithm known as advanced first-trimester screening (AFS), which disregards maternal age.
Method:
: In a multicenter study, FTS findings were retrieved from 10,017 pregnancies. FTS risk assessment was performed using the Nicolaides method, and the AFS score was calculated. The results of both methods were compared.
Results:
: Within this population, 81 fetuses had an abnormal karyotype. The sensitivity of the 2 algorithms was 86.4%. When the AFS method was used, the positive predictive value rose from 9.6% (FTS) to 12.4% (AFS). Using AFS, the test positive rate could be decreased by 161 cases (-22.2%) (p < 0.0001), due to a reduction of false positive cases. As a result, the false positive rate of AFS was 24.5% lower than that of FTS, while the same number of aneuploidies was detected.
Conclusion:
: AFS can markedly reduce the rate of false positive test results. If these results are confirmed by larger multicenter studies, the new AFS will represent a great improvement in fetal aneuploidy screening. (c) 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2008.
