Cystic Fibrosis assessment in infertile couples: genetic analysis trough the Next Generation Sequencing technique

Abstract

Cystic Fibrosis assessment in infertile couples: genetic analysis trough the Next Generation Sequencing technique Elena D’Alcamo1 , Giuseppe Gullo2 , Gaspare Cucinella2 , Antonino Perino2 , Sofia Burgio3 , Andrea Etrusco2 , Veronica Agrigento4 , Serena Sclafani5 , Florinda Listi1 , Aurelio Maggio1 , Igea Vega1 , Antonio Simone Laganà6 , Amerigo Vitagliano7 , Marco Noventa7 , Giovanni Buzzaccarini7,* 1Department of Hematology and Rare Diseases, Villa Sofia Cervello Hospital, University of Palermo, 90133 Palermo, Italy 2Department of Obstetrics and Gynecology, IVF Public Center, Villa Sofia Cervello Hospital, University of Palermo, 90133 Palermo, Italy 3Department of Psychology, Educational Science and Human Movement, University of Palermo, 90133 Palermo, Italy 4Department of laboratory diagnostics - ASP6, 90015 Cefalù, Palermo, Italy 5Department of Services, Villa Sofia Cervello Hospital, University of Palermo, 90133 Palermo, Italy 6Department of Obstetrics and Gynecology, “Filippo Del Ponte” Hospital, University of Insubria, 21100 Varese, Italy 7Department of Women’s and Children’s Health, University of Padova, 35128 Padova, Italy *Correspondence: giovanni.buzzaccarini@gmail.com (Giovanni Buzzaccarini) Academic Editor: Michael H. Dahan Submitted: 24 September 2021 Revised: 26 December 2021 Accepted: 29 December 2021 Published: 6 May 2022 Abstract Background: Cystic Fibrosis (CF) is a genetic disease which is responsible for different systemic conditions. In particular, CF could be responsible for infertility, especially in the male partner due to congenital bilateral absence of vas deferens (CBAVD). Moreover, in Assisted Reproductive Techniques CF screening is performed in order to detect possible risks for the newborn. For this reason, CF testing is one of the main genetic screening performed in infertile couples. Methods: In this scenario, we present a prospective observational study in CF testing with Next Generation Sequencing (NGS) technique on 360 subjects referring to an In-Vitro Fertilization center. Results: 360 subjects were screened for CFTR. Of them, 19 subjects presented CF causing variants, 44 subjects presented CFTR-RD associated, 22 subjects had variants of uncertain significance and 19 subjects with no clinical consequences. Conclusion: Results clarify proportions of the main CF mutations. Actually, there are no more advanced techniques rather than Next Generation Sequencing (NGS) technique, although it is not yet widely used as a test for the identification of the CF carrier. Keywords: Cystic Fibrosis; Infertility; Next Generation Sequencing; CFTR; IVF