Sterility of genetic origin: causes, diagnosis and treatment
Genetic infertility is that caused by some alteration in the DNA sequence of the man or woman who is trying to have a child.
Depending on the type of genetic anomaly, it is possible to differentiate between:
Aneuploidias numerical or structural alterations of the chromosomes. Genetic mutations defects in one or several genes.Sometimes, the future parents are not aware that they are carriers of any genetic disorder until they begin to have difficulties in getting a pregnancy.
Below you have an index with all the points that we will discuss in this article.
Index- 1. Genetic male infertility
- 2. Genetic female infertility
- 3. Genetic alterations in the embryo
- 4. Diagnosis
- 4.1. Karyotype analysis
- 4.2. Sperm FISH
- 4.3. Preimplantation genetic diagnosis
- 4.4. Prenatal tests
- 5. Questions from users
- 5.1. Is it advisable to perform a DGP whenever there is a risk of aneuploidy?
- 5.2. What is genetic counseling?
- 5.3. When is it necessary to make a karyotype?
- 6. Recommended reading
- 7. Bibliography
- 8. Authors and collaborators
Genetic alterations in the embryo
It may happen that, although the ovules and the sperm of the couple are well and do not present genetic alterations, the embryos resulting from fertilization are not viable.
During fertilization, the female nucleus of the ovum must fuse with the masculine nucleus of the sperm and establish the new chromosomal envelope of the embryo. Any error in this process will result in aneuploid embryos that can not be implanted or, if they do, will lead to a miscarriage or the birth of a sick baby.
The main cause of these genetic alterations in embryos is the poor oocyte quality due to an advanced maternal age.
Diagnosis
In most cases, genetic infertility is not diagnosed until more specific fertility tests are done, because with a simple semen, ultrasound or hormonal analysis is not possible to detect.
Next, we will discuss the most common tests when making a genetic diagnosis of infertility.
Comments
Post a Comment