title: Guidelines for the appropriate use of genetic tests in infertile couples.
abstract: Research on genetic causes of male and female infertility rapidly expanded in the last years, following the development of in vitro fertilising techniques. Genetic tests are now available to explore the cause of the infertility and assess the risk of a given couple to transmit its genetic characteristics. This allows at-risk couples to take an informed decision when electing for a medically assisted reproduction. It also allows the professionals to offer a prenatal diagnosis when appropriate. Thus, the genetic work-up of the infertile couple has become good practice for an appropriate diagnosis, treatment and prognostic assessment. The lack of national or international rules for the genetic approach to the infertile couple, prompted the Italian community of professionals in the field of reproductive medicine to join and set up guidelines for the genetic diagnosis of male and female infertility. The group of clinical and research experts is representative of 12 national scientific societies and was supported by external experts from four international societies. We examine the clinically relevant genetic causes of male and female infertility and suggest the category of patients for which each genetic test is recommended or optional, both for an accurate diagnosis and prior to ART.
authors.affiliation: University of Padova, Department of Medical and Surgical Sciences, Clinica Medica 3, Via Ospedale 105, 35128 Padova, Italy. forestac@protec.it
authors.forename: Carlo
authors.initials: C
authors.lastname: Foresta
authors.forename: Alberto
authors.initials: A
authors.lastname: Ferlin
authors.forename: Luca
authors.initials: L
authors.lastname: Gianaroli
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics; D015815:Cell Adhesion Molecules / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics; D017353:Gene Deletion; D017408:Guidelines as Topic; D006801:Humans; D007247:Infertility, Female / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D007248:Infertility, Male / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D017436:Kallmann Syndrome / Q000235:genetics; D007621:Karyotyping; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000941:ethics*; D009419:Nerve Tissue Proteins; D011944:Receptors, Androgen / Q000235:genetics; D014998:Y Chromosome
chemical_list: C076266:ANOS1 protein, human; C505032:CFTR protein, human; D015815:Cell Adhesion Molecules; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; D011944:Receptors, Androgen; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase