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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 A. Naclerio
La diagnostica molecolare in epoca prenatale: evoluzione tecnologica ed implicazioni etiche in medicina della riproduzione
Molecular diagnostics in the prenatal age: technological evolution and ethical implications in reproductive medicine
<p>Congenital anomalies have a birth rate of 3-5% in the general population. The ability to identify genetic alterations in the prenatal age is noticeably increased with the advancement of molecular diagnostic techniques, which are included today in clinical practice. Nowadays, we have several non-invasive and invasive testing options and it is relevant to consider that some of them have a screening value while others have a proper diagnostic role. Based on that, when we are approaching prenatal molecular tests, it is crucial to weigh the multiple ethical implications, related to specific single testing or shared by more of them. Indeed, the interpretation of the testing results may be straightforward especially when the test aims to assess a known familial alteration, while it is more challenging when a genetic variation of unknown significance has to be reported. Thus, prenatal genetic counselling, pre and post-test, is essential to drive the couples to balance the desire to acquire as much information as possible and the real clinical utility of prenatal genetic investigations. </p>
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