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

An appropriate genetic counselling must be granted for the couple, before as well as after the genetic testing. Genetic tests has been classified in “highly recommended”, “recommended” or “optional” depending if theirs 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 cover the karyotype in peripheral blood, the molecular study of CFTR, Fragile X, factor II, factor V and MTHRF. Related men with impaired reproduction, every genetic study should be preceded by an andrological study, which must include at least one clinical staff, family and analysis of semen. A medical indication can be made for the karyotype in peripheral blood, the molecular study of CFTR, microdeletions on the Y chromosome sperm FISH in the study of meiosis in testicular tissue and DNA fragmentation.