[ XXXX : premature ovarian failure. Preimplantation and preconception genetic diagnosis].

@entity1 @entity52 @entity7793 @entity2100 @entity74 @entity10308 @entity2798
Although it is generally accepted that @entity1 who are carriers of the premutation of the @entity2100 ( @entity2100 ) show no pathological clinical features, several studies have shown that they have a higher incidence of premature failure of their ovaries ( @entity7793 ) than the general population. However, when @entity1 who are carriers of the complete mutation are studied, no relation is seen between the two conditions. All @entity1 who are carriers of the premutation of the @entity10308 gene should be informed that they have a greater possibility than the general population (10-15 times) of having an @entity7793 . @entity74 ( @entity74 ) is a technique used in diagnosis, based on genetic analysis of an embryo obtained by @entity52 ( @entity52 ) and subsequently transferred to genetically healthy viable embryos. Preconception genetic diagnosis is based on the genetic study of an ovule before fertilization and subsequent @entity52 of healthy ovules. The methodology is similar in both cases. Genetic study of @entity2100 is especially difficult because of the large number of CGG repetitions in affected. Often indirect diagnosis has to be made. Both diagnoses have a series of evident advantages over prenatal diagnosis. There is no pregnancy present so the stress and emotional trauma of VIP ( @entity2798 of pregnancy) is avoided. However, it should be pointed out that there are technical drawbacks regarding genetic analysis and the need to resort to @entity52 in fertile couples.
