Advancements in Reproductive and Genetic Medicine

Artificial Insemination

Artificial insemination is the introduction of semen or healthy sperm into a woman’s vagina in order to achieve a pregnancy. Normally, with this technique, in 100 cycles of insemination, 13 result in pregnancy, and in 100 couples who completed 4 cycles, 60 get pregnant. Of all pregnancies achieved, 15-20% are twins and another 15% are miscarried. There are two situations depending on the origin of semen:

Homologous or Conjugal Artificial Insemination (HAH)

The semen comes from the couple. Artificial insemination is conducted when there is difficulty depositing sperm in the woman’s vagina naturally (during intercourse), for example, due to premature ejaculation, vaginismus, impotence, or retrograde ejaculation.

HAH may also be resorted to when the woman has uterine abnormalities, excessively thick cervical mucus, ovulatory dysfunctions, etc., or simply when the cause of infertility in the couple is unknown (15% of cases).

Donor Artificial Insemination (DAI)

Semen is from an anonymous donor. A sperm bank is used when the male member of the partner has azoospermia, an inherited genetic disease, or a sexually transmitted disease, or when the patient is a woman without a partner.

Artificial insemination has three phases:

• Ovarian hormonal stimulation to increase the number of mature oocytes.
• Semen preparation, selecting and concentrating the motile sperm.
• Insemination of the woman, held in a consultation.

Gene Therapy for Hemophilia

Gene therapy brings new hope for the treatment of hemophilia. It involves inserting a gene into a cell for a therapeutic effect. For years, research has focused on introducing the gene encoding a coagulation factor to cure hemophilia. Work with dogs naturally affected by this disease has shown that hemophilia can be successfully treated by transferring the gene for clotting factor IX through viral vectors. In fact, affected dogs were treated for hemophilia with a single injection of viral vectors coding for coagulation factor IX, and this has achieved correction of the disease for a period of more than five years.

Embryonic Stem Cells

Embryonic stem cells are pluripotent, which means they can differentiate (become) into any of the approximately 200 types of cells in the body. The fact that they can differentiate into one cell or another specific to each tissue depends on chemical signals from substances that induce the expression of various genes to produce specific proteins, resulting in heart cells, epithelial cells of the retina, or pancreatic B cells.

Therapeutic Cloning

Therapeutic cloning involves transferring the nucleus of a diseased cell to an egg, generating an embryo from which cell extracts could be used as a replacement in the patient. This would provide the patient with their own tissue to replace damaged tissue without immune rejection. The embryo would be formed by a few cells, but obtaining it represents an ethical problem because it is a human embryo.

Benefits and Risks of Human Genome Knowledge

Knowledge of the location of human genes is of great importance in the biomedical sciences and has unpredictable consequences. The possibilities this holds are immense, such as better understanding human evolution or developing various therapeutic strategies to combat and prevent genetic and inherited diseases. Even so, identification of the genome may also entail some risks, especially related to early identification of biological characteristics and diseases that are not yet expressed in individuals.