Genetic

Genetic is a very useful tool in Medicine since a large percentage of medical complications have a high hereditary component gynaecology and reproduction are not the exception given that a great number of infertility and sterility problems have a genetic nature. At Instituto Bernabeu more specifically at our Alicante branch, we have at our disposal, in the Genetics department and Molecular Biology department, the latest technological aids used for the diagnosis in the fields of Fertility and Obstetrics.

Among the techniques practiced here at our institute we can highlight the following ones:

Cytogenetic techniques

This technique allows us to study the number and structure of chromosome material of different types such as the ones found in peripheral blood, amniotic liquid as well as in the Chorionic villus.

Basic techniques of molecular biology

  • Polymerase Chain Reaction (PCR)

    This technique allows us to amplify specific DNA sequences from small samples making possible its analysis.

  • DNA sequenciation

    The main objective of this technique is to identify existing gene mutations that are responsible of hereditary illnesses.

Fluorescent in Situ Hybridization (FISH)

This technique allows the observation of a specific chromosome through its fluorescence. The result let us identify the number of copies of the chromosome being studied and its possible structural alterations.

All these techniques, allow us to respond to the necessities that in the area of genetics and molecular biology, need a specialized Centre for their study and treatment, like ours.

Among the several uses these techniques have, we will now highlight some of the ones carried out in our department:

Antenatal Diagnosis

This diagnosis helps us to detect genetic or chromosomal disorders before birth. It can be done through amniocentesis (extraction of amniotic liquid) and the biopsy of the Chorionic villus. It determines:

  • The adequate number of chromosomes through (FISH)
  • Changes in chromosomal structures.
  • Genetic studies of hereditary illnesses.

Cytogenetic studies (Chromosomal analysis)

Classical Cytogenetic studies as well ass FISH, allow us to diagnose in peripheral blood and in biopsy tissues, structural alterations and microdeletion

Genetic Studies

In our department, we carry out the molecular study of the different genetic illnesses:

  • Sieving of cystic fibrosis mutations (33 mutations plus the polymorphisms 5T/7T/9T).
  • Study of the expansion responsible for Fragile x Syndrome.
  • Sieving of ataxy.
  • Study of the expansion of myotonic dystrophy.
  • Study of markers of Duchenne muscular dystrophy.
  • Study of the expansion of Huntington’s chorea.
  • Study of the uniparental methylation and disomy of Prarder-Willi-Angelman.
  • Diagnosis of molecular hemochromatosis (gene MTHFR).

Study of the masculine factor

Nowadays, parameters obtained through the analysis of spermatozoids (seminogram) don’t contribute with complete information about the fecundant potential of semen or the capacity to create a healthy embryo for a normal pregnancy. A complete study of the masculine factor and its contribution to the fertility problem in couples requires determining some other parameters like:

FISH in spermatozoids

Through this FISH technique, previously explained, we check if any chromosome changes have taken place (aneuploide) in spermatozoids. An increase in the number of altered spermatozoids might be responsible for failed implantation and abortion.

Sieving of microdeletion of the Y chromosome:

We can identify through the PCR technique possible deletion of the Y chromosome in different specific regions. It has been proven that absence in these regions is responsible of certain alterations in gametogenesis.

Determination of the Spermatic DNA fragmentation index (TUNEL):

It has been proven that infertile males have got a great farction of broken DNA spermatozoids and that its impact can translate into negative assissted reproduction results.

The techniqe that we use to determine espermatic DNA fragmentation is TUNEL or Terminal dUTP Nick-End Labeling that consists on measuring broken DNA chains incorporating molecules fluorecently marked.

Preimplantation genetic diagnosis

As well as PGD, our department offers the following complementary services:

Preconceptionla and genetic advice

We inform our patients of the implications of genetical nature complications and will perform studies to determine as soon as posible the affected parties.

Paternity test

We perform this test by extracting perpheral blood samples, buccal epithelial cells and amniotic liquid. Samples are treated following a protocol of extraction and custody established by the legislation of confidentiality. We are legally credited to act as expert surveyors in the courts of law.

After having booked an appointment and having given all the necessary documents, the usual procedure is the boold sample taken from the adult and a saliva sample taken from the children with a cotton wool, this is a non invasive method and this way we don´t have to take blood from the children.

The results are available in between ten and fifteen days, and are given to the person requesting the test by the Biology Department, there are absolutely confidential. The acuracy is of a 100% if the result is negative and of a 99,99% if the result is positive.

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