Genetic screening

The IMED Valencia Reproduction Unit has the Medical Genetic Unit of UR Group to reach a perfect clinical diagnosis and genetic advice. It has its own staff, space, and equipment for the clinical diagnosis and genetic advice of hereditary diseases.

The Genetic Unit of UR Group is one of the most advanced in Spain. The Medical Genetic Unit not only works with our ten reproduction units, but it is also the Unit of reference in the entire Valencian Community , offering its services to multiple reproduction nits in Spain and in other hospitals.

The Medical Genetic Unit of UR Group is led by the Professor in Genetics Joaquín Rueda, professor of cellular biology in the Medical School of the University Miguel Hernández of Alicante.

More information in: www.geneticavistahermosa.es

Main genetic tests

Karyotype in peripheral blood

All of us have our personal genetic information organized in 23 pairs of chromosomes, which are organized by pairs from numbers 1 to 22, and the last pair is made up by the chromosomes that determine the gender.

The study of these chromosomes can shed a light on the problems of a sterile couple alterations and explain why a spontaneous gestation cannot occur.

In a blood sample, some cells are cultured to study the number and morphology of each of the chromosomes that make up our identity.

It is a basic test that can reduce failed attempts if it is performed before starting an assisted reproduction technique.

Pre-implantation genetic screening

The embryos without the correct genetic set do put implantation at risk or, may also occur, will result in a miscarriage.

To prevent unsuccessful embryo transfers that will not produce a live newly born, the pre-implantation genetic screening technique emerged. It consists of studying the embryonic genetic set before the transfer, aimed at transferring only those that are genetically normal. So, during the in vitro culture of the embryos, a small biopsy of the embryo is performed, usually between the third and fifth day of development. In both cases, this biopsy fragment is used for a genetic analysis of each and every one of the chromosomes in a cell.

The CGH array is the technology used for the chromosome testing. Through this innovating technique, we can study the complete embryo genome, detecting gain or loss of genetic material at very high resolution.

The embryo genome testing increases the implantation and gestation rates. It is especially indicated for advanced maternal age, genetic alterations in the spermatozoa, or genetic alterations in the progenitors that can produce altered embryos.

Genetic compatibility test

All of us are carriers of a copy of genetic mutations. As carriers, we will not develop any disease because two copies are required. The problem happens when a couple is a carrier of the same mutation, because they can transmit it to their children and give way to the presence of diseases.

The genetic compatibility test proposes a molecular screening for 213 diseases, resulting in the analysis of more than 2,000 mutations. Individually, they have a low incidence in the population, but collectively they can affect 1 % of the general population.

The process is simple. A test sample is taken, and it is analyzed in our genetic laboratory. Before starting the assisted reproduction technique, you will have the results, and if necessary, a consultation to clarify all your doubts with our expert geneticists. In this way, we avoid the appearance of the so-called rare diseases, studying the diseases most frequently seen in our environment. Through this technique, couples minimize the risk of inherited diseases in their children.

FISH in spermatozoa

The sperm quality studies through spermiogram is the first step in the assessment of male fertility. The interest in biomarkers that help us to improve the infertility diagnosis and prognosis has led us to expand the spermatozoa studies, and techniques have been developed to study the genetic set of spermatozoa through the technique known as Fluorescent In Situ Hybridization (FISH).

This technique analyzes the number of chromosomes present in each spermatozoid to detect potential errors in their splitting during meiosis or gamete formation. The chromosomes routinely studied are 13, 18, 21, X, and Y.

It is indicated in males with severe sperm alterations, as well as in cases of implantation failure and recurrent miscarriages.

Microdeletion of chromosome Y

Chromosome Y is the main marker for the male sexual differentiation, but it also has important genes for spermatozoid formation (spermatogenesis) and testosterone production. Chromosome Y is small but a well-known fact is that the genes it contains arouse significant interest because they are responsible of important functions. This chromosome Y is studied with a molecular genetic test to give a diagnosis to males with important sperm alterations.

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