Recomendaciones para el estudio genético de la pareja con alteraciones en la reproducción

Appropriate genetic counselling must be given to the couple before and after the genetic testing. Genetic tests have been classified as “highly recommended,” “recommended” or “optional” depending on whether the results have changed the prognosis of the corresponding pathology. The indication for genetic testing in women with impaired reproduction is classified on the basis of personal and family medical history and can include the karyotype in peripheral blood, the molecular study of CFTR, Fragile X, factor II, factor V and MTHRF. As regards men with impaired reproduction, every genetic study should be preceded by an andrological study, which must include at least the personal and family history and a semen analysis. A medical indication can be made for the karyotype in peripheral blood, the molecular study of CFTR, microdeletions on the Y chromosome, FISH sperm FISH, meiosis in testicular tissue studies, and DNA fragmentation.