The introduction of the absolute risk for the detection of fetal aneuploidies in the first-trimester screening

Abstract

Purpose: Maternal age is a crucial factor in fetal aneuploidy screening, resulting in an increased rate of false-positive cases in older women and false-negative cases in younger women. The absolute risk (AR) is the simplest way to eliminate the background maternal age risk, as it represents the amount of improvement of the combined risk from the maternal background risk. The aim of this work is to assess the performance of the AR in the combined first-trimester screening for aneuploidies.

Materials and methods: A retrospective validation of the AR in the combined first-trimester screening for fetal aneuploidies, in an unselected population at Altamedica Fetal-Maternal Medical Center in Rome, between March 2007 and December 2008.

Results: Of 3845 women included in the study, we had a complete follow-up on 2984. We evaluated that an AR < 3 would individuate 22 of 23 cases of aneuploidy with a detection rate of 95.7% (95%CI 87.3–100), a false-positive rate of 8.7% (95%CI 7.7–9.7) and a false-negative rate of 4.3% (95%CI 0–12.7).

Conclusions: In our study, the AR ameliorates the detection rate for aneuploidy. Further research and a prospective study on a larger population would help us to improve the AR in detecting most cases of aneuploidy.

• Absolute risk
• aneuploidy
• Down syndrome
• first trimester screening
• nuchal translucency

Acknowledgements

We would like to thank all the team of Altamedica Fetal-Maternal Medical Center.

Declaration of interest

All authors have no proprietary, financial, professional, or other personal interest of any nature in any product, service, or company. The authors alone are responsible for the content and writing of the paper. No specific funding was obtained.