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

Abstract

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.

• Authors: Francesco Padula, Pietro Cignini, Diana Giannarelli, Cristiana Brizzi, Claudio Coco, Laura D'Emidio, Elsa Giorgio, Maurizio Giorlandino, Lucia Mangiafico, Marialuisa Mastrandrea, Vincenzo Milite, Luisa Mobili, Cinzia Nanni, Raffaella Raffio, Cinzia Taramanni, Roberto Vigna, Alvaro Mesoraca, Domenico Bizzoco, Ivan Gabrielli, Gianluca Di Giacomo, Maria Antonietta Barone, Antonella Cima, Francesca Romana Giorlandino, Sabrina Emili, Marina Cupellaro, Claudio Giorlandino
• Journal: Journal of prenatal medicine (J Prenat Med) 2014 Apr-Jun Vol. 8 Issue 3-4 Pg. 50-6 ISSN: 1971-3282 [Print] Italy
• PMID: 26266002 (Publication Type: Journal Article)