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Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

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Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
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Ana-Maria Simundic Croatia
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Giuseppe Agosta

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Chiara Riva
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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

BC: Articoli scritti da E. Muccinelli

Screening prenatale delle principali anomalie cromosomiche nell’ambito del percorso assistenziale del Piemonte
Prenatal screening of the main chromosomal abnormalities: the experience of the Piemonte region (Italy)
<p>Introduction: the purpose of prenatal diagnosis is the identification of the 3% of fetuses with chromosomal abnormalities. Prenatal testing relies on ultrasound measurements and biochemical markers, but in recent years it has been moving towards Non-Invasive Prenatal Testing (NIPT) to determine the fetal risk for genetic disorders. The aim of this study is to provide an assessment of the implementation of cell-free DNA (cfDNA) screening for the three main aneuploidies [Down (T21), Edwards (T18), and Patau (T13) syndromes] using a Contingent approach in the Piedmont region in Italy, where currently Combined, Wald and Integrated tests are offered by the National Health System.<br />Methods: a prospective NIPT study was carried out among women referred for invasive prenatal diagnosis in Citt&agrave; della Salute e della Scienza in Turin, Italy. The plasma fraction was extracted, stored at &minus;20&deg;C and cfDNA measured using an automated system based on rolling circle replication.<br />Results: a total of 805 women were recruited including 48 T21, 25 T18, and 3 T13 affected pregnancies. The detection rates (DRs) were 100% (93%-100%), 96% (80%-100%), 67% (9.4%-99%), and the false-positive rates (FPRs) were 0.14% (0.00%-0.79%), 0.78% (0.29%-1.7%), and 0.26% (0.03%-0.95%) for T21, T18, and T13 syndromes, respectevely.<br />Conclusion: the screening performance of cfDNA is substantially higher than the Combined or Integrated tests. Considering the offering a Contingent cfDNA screening policy, it is relevant to assess the test performance in samples in the &ldquo;grey zone&rdquo; conventional screening results (i.e., risk 1 in 100 - 2 500 for T21 syndrome ) compared with the previous one&nbsp; (risk higher than 1 in 100 or lower than 1 in 2 500).</p>
Biochimica Clinica ; 46(3) S082-087
Contributi Scientifici - Scientific Paper