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Study of monogenic genetic diseases

Study of monogenic genetic 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.
  • Tuberous sclerosis.
  • Polycystic kidney disease.
  • Thalassemias

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.