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Fertility and genetic disorders
Fertility and genetic disorders

Fertility
and Genetic Disorders

Pre-implantation Genetic Diagnosis (PGD)


The Pre-implantation Genetic Diagnosis (PGD) is a study technique that allows performing a detailed analysis of the embryo before being transferred into the uterus. This way it becomes possible to transfer free-hereditary-diseases embryos. This is prescribed as long as the patient has an optimal response to the ovarian stimulation and the genetic disease is within the legal limits about human assisted reproduction techniques.

This technique is designed to be used only when there is a detection of serious genetic disorders of early appearance and not subjected to a postnatal curative treatment, in order to select the inappropriate embryos for the transfer. It is also used for other abnormalities detection that can endanger an embryo’s feaAfter the first diagnosis stages, such as the formation of embryos and embryo biopsy, are performed, different genetic analyses take place, and this is the point where a meticulous study of hereditary diseases is crucial

Study of Monogenic Genetic Disorders


This analysis consists of an embryo study before being transferred to ensure the absence of a possible mutation. This way, the disorder analyzed will disappear within the offspring of the family affected. To perform such analysis, a test of the couple and some other relatives is needed to determine existing mutations.

Subsequently, embryos selected are collected in a biological incubator with controlled temperature, oxygenation and moisture conditions similar to those in the Fallopian tubes. Under such conditions, embryos are cultured in a two- or three-day period, before being transferred between the fourth and sixth day after the ovarian puncture.

The study of monogenic genetic disorders is specifically prescribed for cases in which serious pathologies are caused by a mutation. Its application field is quite wide and suitable to detect all genetic disorders with a known mutation, from which the most common are:

- Cystic fibrosis

- Fragile X syndrome

- Myotonic dystrophy

- Tuberous sclerosis

- Polycystic kidney disease

- Thalassemia.

This list is open and new disorders are constantly added to it. To know any further information about fertility and genetic disorders or whether a patient is a carrier of a specific family pathology, do not hesitate in scheduling an appointment with our medical team. CELAGEM has the highest technology in genetic diagnosis to offer a solution for these cases.


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