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Fertility and hereditary diseases

Fertility and hereditary diseases – Genetic Diagnosis Preimplantation (PGD)

Preimplantation Genetic Diagnosis (PGD) is a technique that allows a detailed analysis of the embryo before being transferred into the maternal uterus. This makes it possible to transfer embryos free of any hereditary diseases. It is recommended as long as the patient has an optimal response to ovarian stimulation and the genetic disease under study is within the legal limits of techniques of assisted human reproduction.

The designed technique is only to be applied in case of the detection of serious hereditary diseases in an early appearance and in case there is no susceptible to postnatal curative treatment. This in order to select embryos that are not suitable for transfer. Likewise, this technique serves as well for the detection of other alterations that may compromise the viability of the embryo.

Once the first phases of the diagnosis have been carried out, such as embryo formation and embryo biopsy, we proceed with the different genetic analyses. At this point the thorough study of hereditary diseases becomes fundamental.

Study of monogenic diseases

This analysis consists of the study of the embryo before being transferred, in order to ensure the absence of a possible mutation. In this way the disease under study will not appear with the offspring of the affected family. In order to carry it out, it is necessary to undergo an examination of the couple and certain family members to determine the existing mutations.

Subsequently, the selected embryos are stored in a biological incubator under controlled conditions of temperature, oxygenation and humidity, similar to those of the fallopian tubes. Under these conditions the embryos are kept in cultivation for a period of one to three days. The transfer will be carried out between four and six days after the ovarian puncture.

The study of monogenic genetic diseases is recommended specifically for cases of serious diseases caused by a mutation. Its field of application is quite broad and is ideal for detecting all hereditary diseases with known mutations, of which the most common are:

  • Cystic fibrosis.

  • Fragile X syndrome.

  • Steinert myotonic dystrophy.

  • Sclerosis tuberosa.
  • Poliquistosis renal.
  • Talasemias.

This list is not fixed and new diseases are constantly added (Download here a complete list of hereditary diseases of known mutation). If you want to obtain more information about fertility and hereditary diseases or if you are a carrier of a specific family pathology, do not hesitate to schedule a consultation with our medical team. In Novafem we have the most modern advances in genetic diagnosis to offer a solution to these cases.