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Editor-in-chief
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

EIC Assistant
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
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it

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



BC: Articoli scritti da B. Pasini

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
 
Raccomandazioni per l'implementazione del Test genetico BRCA1/2 nelle pazienti con carcinoma ovarico: dall'analisi sul tessuto tumorale a quella su DNA germinale.
Recommendations for the implementation of BRCA1/2testing in ovarian cancer patients: from tumor togermline analysis. Joint document from SIBioC, AIOM, SIGU, SIAPEC-IAP
<p>Since the approval of the first polyadenosine diphosphate (ADP) ribose polymerase inhibitor (PARPi), olaparib for platinum-sensitive relapsed highgrade ovarian cancer, with either germline or somatic BRCA1/2deleterious variants, the strategies for BRCA1/2testing are dynamically changing. In fact, along with germline assay, patients are now tested for tumor BRCA1/2alsoabove all for treatment decisions. In fact, it is reported as by tumor BRCA analysis we can identify 3&ndash;9% moremutated women which can therefore benefit from PARPi therapy. Although this new type of approach looks likechallenging, in particular due to the technical and analytical difficulties regarding low quality DNA deriving fromformalin-fixed paraffin-embedded specimens, the new CE-IVD on NGS-based pipelines, can overcome these issues,allowing specialized molecular laboratories to ensure high quality results and perform the best test settings.Nevertheless, each new NGS pipeline (CE-IVD or in house) should be validated using peculiar samples along withcommercially available reference and certified materials, before being introduced in routine settings. The validationset should be appropriately chosen in order to provide unequivocal data regarding robustness of each NGStBRCApipeline. Therefore, in order to harmonize the patient and laboratory path, a group of Italian Scientific Societies[Italian Society of Clinical Chemistry (SIBioC), Italian Association of Medical Oncology (AIOM), Italian Association ofClinical Pathology (SIAPEC), Italian Society of Human Genetics (SIGU)] provided the present recommendationswhich are aimed to guide all professionals (oncologists, gynaecologists, clinical and laboratory geneticists, clinicalmolecular biologists and pathologists). The intersociety group is confident that the present paper can offer all ovariancancer women a well-organized pathway of diagnosis and treatment.</p>
Biochimica Clinica ; 43(3) 332-338
Documenti SIBioC - SIBioC Documents