Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.

Autor: Padula F; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Cignini P; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giannarelli D; Scientific Direction, Biostatistical Unit, Regina Elena National Cancer Institute, Rome, Italy., Brizzi C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Coco C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., D'Emidio L; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorgio E; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorlandino M; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mangiafico L; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mastrandrea M; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Milite V; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mobili L; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Nanni C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Raffio R; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Taramanni C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Vigna R; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Mesoraca A; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Bizzoco D; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Gabrielli I; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Di Giacomo G; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Barone MA; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Cima A; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorlandino FR; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Emili S; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Cupellaro M; Department of Genetics and Molecular Biology, Artemisia Fetal-Maternal Medical Centre, Rome, Italy., Giorlandino C; Department of Prenatal Diagnosis, Altamedica-Artemisia Fetal-Maternal Medical Centre, Rome, Italy.
Jazyk: angličtina
Zdroj: Journal of prenatal medicine [J Prenat Med] 2014 Apr-Jun; Vol. 8 (3-4), pp. 50-6.
Abstrakt: Objectives: to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine.
Methods: a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11(+0) and 13(+6) weeks of gestation, between April 2007 and December 2008.
Results: of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2-100; false-positive rate (FPR) 4.7%, 95% CI 3.9-5.4; false-negative rate (FNR) 17.6%, 95% CI 0-35.8%].
Conclusion: in our study population the detection rate for trisomy 21, using the combined risk calculation based on maternal age, fetal NT, maternal PAPP-A and free β-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population.
Databáze: MEDLINE
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