Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Journal of prenatal medicine, 2014-04, Vol.8 (3-4), p.50-56

Ort / Verlag

Italy: CIC Edizioni Internazionali

Erscheinungsjahr

2014

Quelle

EZB Free E-Journals

Beschreibungen/Notizen

• 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. 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. 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%]. 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.