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. 2014 Apr-Jun;8(3-4):50-6.

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

Francesco Padula  1 , Pietro Cignini  1 , Diana Giannarelli  2 , Cristiana Brizzi  1 , Claudio Coco  1 , Laura D'Emidio  1 , Elsa Giorgio  1 , Maurizio Giorlandino  1 , Lucia Mangiafico  1 , Marialuisa Mastrandrea  1 , Vincenzo Milite  1 , Luisa Mobili  1 , Cinzia Nanni  1 , Raffaella Raffio  1 , Cinzia Taramanni  1 , Roberto Vigna  1 , Alvaro Mesoraca  3 , Domenico Bizzoco  3 , Ivan Gabrielli  3 , Gianluca Di Giacomo  3 , Maria Antonietta Barone  3 , Antonella Cima  3 , Francesca Romana Giorlandino  3 , Sabrina Emili  3 , Marina Cupellaro  3 , Claudio Giorlandino  1
Affiliations

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

Francesco Padula et al. J Prenat Med. 2014 Apr-Jun.

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.

Keywords: Down Syndrome; SCA-Test; first trimester screening; nuchal translucency.

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