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The introduction of the absolute risk for the detection of fetal aneuploidies in the first-trimester screening
Authors:Francesco Padula  Salvatore Giovanni Vitale  Laura D'Emidio  Claudio Coco  Diana Giannarelli
Affiliation:1. Department of Prenatal Diagnosis, Altamedica Fetal-Maternal Medical Centre, Rome, Italy,;2. Department of Human Pathology in Adulthood and Childhood “G. Barresi”, Unit of Gynecology and Obstetrics, University of Messina, Messina, Italy,;3. Scientific Direction, Biostatistical Unit, Regina Elena Cancer Institute, Rome, Italy,
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 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.
Keywords:Absolute risk  aneuploidy  Down syndrome  first trimester screening  nuchal translucency
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