Francesco Padula1, Antonio Simone Laganà2, Salvatore Giovanni Vitale2, Laura D'Emidio1, Claudio Coco1, Diana Giannarelli3, Maria Cariola4, Alessandro Favilli5, Claudio Giorlandino1. 1. a Department of Prenatal Diagnosis , Altamedica Fetal-Maternal Medical Centre , Rome , Italy. 2. b Department of Human Pathology in Adulthood and Childhood "G. Barresi" , Unit of Gynecology and Obstetrics, University of Messina , Messina , Italy. 3. c Scientific Direction, Biostatistical Unit, Regina Elena Cancer Institute , Rome , Italy. 4. d Department of General Surgery and Medical Surgical Specialties , University of Catania , Catania , Italy , and. 5. e Department of Obstetrics and Gynecology , University of Perugia , Perugia , 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 < 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.
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.
Entities:
Keywords:
Absolute risk; Down syndrome; aneuploidy; first trimester screening; nuchal translucency
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