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 Molecular Biology Techniques

  • • Polymerase Chain Reaction (PCR)

    This technique allows us to amplify and analyse specific DNA sequences from small samples..

  • DNA sequencing

    The main aim of this technique is to identify existing gene mutations that are responsible for 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:

prenatal 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.

The procedure to conduct a paternity test through DNA analysis is very simple, but it changes depending if it is an informative test, for private use or if it needs a report with legal validity. Only biological samples of the son/daughter and the alleged father are needed. The biological sample of the mother is not essential.

Paternity test for private use: This paternity test has no legal validity and the names of the people involved do not appear in the report. The sample taking can be carried out at the subject’s house and he/she can receive the results at home. For the sample taking you can ask us for a kit for the paternity tests that we will send you with accurate directions or you could pick it up yourself from any of our Clinics Instituto Bernabeu. Use the samples carefully. Use protection to touch the cotton swab. Once you have taken the samples and you have packed them properly under the directions given, you should send them to us with the corresponding forms.

Paternity test with legal validity: It is conducted when an expert report is needed that includes the names of the people involved and that can be used in a Court. The admissibility of this paternity test in Court depends on the correct process of taking and identifying the sample. Therefore, the sample taking can only be carried out by health or law professionals, who will identify and custody the samples in order to guarantee their authenticity and integrity in every moment. Documents that you must bring at the sample taking: personal identification card or passport in force with a recent photo in case of people under legal age (essential), photo of the booklet recording official details of one’s family or legal authorization justifying the guardianship over the child. So that the paternity tests have legal validity in Spain, the mother’s authorization is not required.

Prenatal paternity tests: If you wish to conduct a prenatal paternity test (during the pregnancy), please contact us sending an email to the following address: or phoning us: 965154000.

Genetic trace

The genetic trace or map helps us tell the difference between two human beings and the applications are different: forensic medicine, paternity test, compatibility test for the organ donation or even to generate hypothesis about the migrations of the human beings in prehistoric times. To have access to the genetic trace it is very useful to provide families with a genetic ID that proves the relationship between parents and adopted children or to identify people without documents.

At the same time, the genetic map is helping investigations to fight illnesses such us genetic ailments, tumours, muscular dystrophy, or skin problems.

What is the genetic trace?

DNA contains all the information needed for the development of live organisms. Individuals from the same species share a big part of the DNA sequence, but there are certain regions highly variable that are specific of each subject. These areas of the genome are called polymorphisms or genetic markers and they are use for the identification of people, since it is very unlikely that two human beings not related to each other could share the same genetic markers. The group of polymorphisms specific of each person is known as genetic profile.

The individual genetic profile allows us to identify each person, except in the case of having a monozygotic twin brother, since in this case they share the same DNA sequence. The genetic profile characterizes each individual the same or even better than their own fingerprints, this is why it is called genetic trace. Its advantage is that is more precise than other identification methods. Also, DNA is found in each and every single cell of the human body, therefore it can be obtained from any biological sample. The genetic trace is invariable and unique along a person’s life.

The situations when doing this kind of study could be very useful, among those, we list some below:

  • To provide a standard (a reference) for the comparison and identification of people in high risk employment such as soldiers, firemen and policemen.
  • To have the genetic profile for the identification in case of an accident, fire or disaster.
  • To have the genetic profile for future paternity tests.
  • To identify adopted children or those conceived through IVF techniques with donated gametes. In these cases children do not share the genetic code of their parents, so the biological identification cannot be used on the DNA studies to be compared with the parents. To have the genetic trace taken is usually more useful in the circumstances mention earlier (accidents, kidnapping, fire, or situations when there could be doubts about the identification of a person).

Finally, as an alternative service to obtaining the genetic trace of an individual, his own DNA could be kept for future usage:

  • In the case of a genetic illness diagnosed.
  • Family genetic illnesses prevention.
  • Solution of paternity disputes.

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