Is it possible to isolate genetic diseases through assisted reproduction?

Is it possible to isolate genetic diseases through assisted reproduction?

Assisted reproduction is used annually by thousands of couples or single people who cannot procreate without professional help, either due to a defect in the genetic material, or a tubal ligation that is not reversible.

Assisted reproduction is defined as the technique that involves experts in the medical field, to manipulate the patient's genetic material with supported techniques and obtain a successful pregnancy. In the first instance, congenital diseases, which can bring the gametes of both sexes, are not manipulated.

Among the most used assisted reproductive techniques are:

In vitro fertilization:

It consists of the extraction of the genetic material of the couple or the single-parent family, to be fertilized outside the uterus and after its embryonic maturation, to be implanted again in the mother who will gestate it until its birth. The purpose is that the couple does not go through physical damage and live the experience of the method, together with doctors and specialized professionals.

Artificial insemination:

The embryos are transferred to the cervix for fertilization to occur. This technique is used when either of the two has a difficulty that prevents procreation by natural means. It may be the low mobility of the sperm, or some alteration in the fallopian tubes.

Intracytoplasmic injection (ICS):

It happens the same as in vitro fertilization, the only variation is that the sperm are introduced directly into the ovule through a micro-needle, so that they are fertilized. This occurs when the material of man does not have mobility.

Ovulation induction or ovarian stimulation:

It occurs when the woman cannot release the ovum from the ovaries, or they proceed with a low quality, and are stimulated with hormones so that they have a high possibility of fertilization.

Patients are clinically studied before proceeding to the chosen assisted reproduction method. If it is observed that one of them has a disease that has a high possibility of transferring to the embryo, it is possible that they can be eliminated from the fertilized genetic material.

This technique is known as Preimplantation Genetic Diagnosis (PGD), in which a small biopsy is performed, extracting some cells from the embryo, on its third day of development, to detail and eliminate in case it presents the same pathology of the future parents.

So, only those embryos that are exempt from the diagnosed disease are implanted.

The assisted reproduction clinics only carry out the PGD examination to patients who have a medical certificate that justifies the embryo analysis. It all depends on the policy that patients go to to fulfill their dream of starting a family. But it is usually exclusive to couples with genetic signs. The most specific cases are:

  • Mothers with unexpected abortions.
  • Genetic disease of a couple, is analyzed in the medical history or examination.
  • Pregnant women over 40 years of age.

This test can only be performed if the assisted reproductive method is In Vitro Fertilization (IVF) or Intracytoplasmic Injection (ICS). Since the samples are observed in "in vitro" and there is a more personal handling of the embryos, which are implanted after their complete development in the uterus of the pregnant woman.

With this test, the success of pregnancies by these techniques has increased in recent times. Some clinics do not choose to apply this analysis, since they see it against the natural course of embryonic development, however, if the patient knows about the disease from a previous study and does not want their future child to inherit it, they should approach an institution to ensure the study of cells to avoid genetic transfer.

The most important thing for parents at the time of assisted reproduction is to achieve a healthy, full-term pregnancy.

Since many have gone through other previous treatments or a constant practice in search of their personal planning, without success. Connecting with a center specialized in assisted reproductions will provide the confidence that is needed for the moment, remembering that patience and support together are principles that unite the couple so that everything can become a learning and a positive experience.

There are centers that have more specialized and modern equipment, which improves the quality of analysis without the need to interfere with the internal process of the embryos such as their final implantation. The doctor will determine the ideal breeding method for the couple. And in case the embryo analysis is necessary, IVF or CSI techniques will be used.

If possible isolate genetic diseases for certain assisted reproductions , are known as pathogenic mutations, and are alterations to the normal sequence of cells. That is the study that is analyzed in the laboratories. It is important to know the family history to help detect certain inheritance patterns between generations.

Family planning is important to develop an action plan in case you need assisted reproduction. Not all samples from patients who undergo these methods are analyzed unless they have a medical basis, although by all medical examinations, most manage to produce a healthy baby who is eager for new experiences.

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