Genetics

Genetics is a very useful tool in Medicine as a large percentage of medical complications have a highly hereditary component gynaecology and Reproduction are no exception given that a great number of infertility and sterility problems have a genetic nature. At Instituto Bernabeu and more specifically at our Alicante clinic, 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.

Frequently Asked Questions

Among the techniques used at our institute we would like to highlight the following:

Cytogenetic techniques

This technique allows us to study the number and structure of chromosomal material of different types, such as the ones found in peripheral blood, amniotic fluid 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 for the observation of a specific chromosome through its fluorescence. The result lets us identify the number of copies of the chromosome being studied and its possible structural alterations.

Via the use of these techniques, Instituto Bernabeu, as a specialist centre, can respond to the necessities of genetic and molecular biology.

Among the several uses of these techniques, we will now highlight some of the ones carried out at our centre:

prenatal Diagnosis

This diagnosis helps us to detect genetic or chromosomal disorders before birth. It can be achieved through amniocentesis (extraction of amniotic fluid) 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 as FISH, allow us to diagnose in peripheral blood and in biopsy tissue, structural alterations and microdeletion.

Genetic Studies

At our centre, we carry out the molecular study of different genetic illnesses:

  • Sieving ofCcystic 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 male factor

Currently parameters obtained through the analysis of spermatozoids (seminogram) do not give the complete picture regarding the fertility potential of semen or the capacity to create a healthy embryo for a normal pregnancy. A complete study of the male factor and its contribution to the fertility problem in couples requires determining some other parameters like:

FISH in spermatozoids

Via the FISH technique, explained previously, we check if any chromosomal changes have taken place (aneuploidy) in spermatozoids. An increase in the number of altered spermatozoids might be responsible for failed implantations and miscarriages.

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 for certain alterations in gametogenesis.

Determination of the Spermatic DNA fragmentation index (TUNEL):

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

The technique that we use to determine spermatic DNA fragmentation is called TUNEL or Terminal dUTP Nick-End Labeling that consists of measuring broken DNA chains incorporating fluorecently marked molecules.

Preimplantation genetic diagnosis

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

Preconception genetic advice

We inform our patients of the implications of complications of a genetic nature and perform studies to determine as soon as possible the affected parties.

Family Relationship Tests

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

After booking an appointment and filling out all the necessary documents, the usual procedure begins with a blood sample taken from the adult and a saliva sample taken from the children with a cotton swab. This is a completely non-invasive procedure for the child.

The results are available in between ten to fifteen days and are given to the person who requested the test by the Biology Department. We respect absolute confidentiality. The accuracy is 100% if the result is negative and 99.99% if the result is positive.

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

Paternity tests for private use: This paternity test has no legal validity and the names of the people involved do not appear in the report. The taking of samples can be carried out at the subject’s house and where the results will also be sent. Instituto Bernabeu can send you a samples kit to your home which include clear instructions or you can pick one up from any of our clinics. Handle the samples carefully. Use protective gloves to touch the cotton swab. Once you have taken the samples and you have packed them properly as per the instructions given, you should send them to us with the corresponding forms.

Paternity tests with legal validity: These are conducted when a specialist’s report is needed that includes the names of the people involved and which can be used in a Court of Law. The admissibility of this paternity test in Court depends on the correct process of taking and identifying the sample. Therefore, the taking of samples can only be carried out by health or law professionals, who will identify and guard the samples in order to guarantee their authenticity and integrity at all times. Documents which you must bring for the taking of samples: a personal ID card or valid passport with a recent photo (essential for children under the age of 18), legal documentation confirming the guardianship of the child. Please note that the mother’s authorisation is not required for the paternity test to have legal validity in Spain.

Prenatal paternity tests: If you wish to conduct a prenatal paternity test (during pregnancy), please contact us by sending an email to the following address: or by phoning us on: +34 965154000.

Genetic fingerprinting

Genetic fingerprinting or mapping helps us differentiate between two human beings and has various applications: forensic medicine, family relationship tests, compatibility tests for organ donation or even to generate hypotheses regarding human migration in prehistoric times. Genetic fingerprinting is very useful in providing families with a genetic ID which could be used to prove the relationship between biological parents and adopted children or to identify people without documentation.

At the same time, genetic mapping can help in the research to fight illnesses such as genetic diseases, tumours, muscular dystrophy, or dermatologic problems.

What is genetic fingerprinting?

DNA contains the necessary information for the development of living beings. Individuals from the same species share a large part of the DNA sequence, but there are certain highly variable areas that are specific to each subject. These areas of the genome are called polymorphisms or genetic markers and they are used to identify individuals as two unrelated human beings are extremely unlikely to have the same genetic markers in common. The group of polymorphisms specific to each person is known as their genetic profile.

The individual genetic profile makes it possible to differentiate easily between individuals (except for monozygotic twins who share the same DNA sequencing) and identifies a person the same as or even better than fingerprints do. It is for this reason that it is referred to as a genetic fingerprint or map. The main advantage is that it is much more precise than other methods of identification. In addition, DNA is present in each and every cell of the human body and so can be retrieved from any biological sample. A genetic fingerprint is unique and unchanging throughout one’s life.

In the following we have outlined some of the situations where this type of study would be useful:

  • Adopted children or children conceived via assisted reproduction techniques using donated gametes. In these cases the children do not share the same genetic code as their parents so for biological identification purposes a study of the parents’ DNA would be useless.
  • To provide a genetic profile: For identification purposes in the case of accidents, fires, disasters or situations where there is doubt to a person’s identity.
  • To provide a standard or reference for the comparison and identification of individuals working in high-risk professions. For example, military personnel, firefighters or police officers.
  • To provide information for family relationship tests.

Finally, as a complimentary service once the genetic fingerprint has been obtained, the DNA itself can be stored for future use:

  • Diagnosis of diagnosed genetic illnesses.
  • Prevention of hereditary genetic illnesses.
  • Solving family relationship disputes.

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