It is thought that about 20% of the reproductive problems are genetic or chromosomal. That is why the genetic testing is now an essential part of the fertility study carried out on couples who come to our centre for help to have children. […]
Dr. José A. Ortiz
What are genetics and epigenetics?
Genetics and epigenetics are two, closely-related branches of biology. The former is much more well known and consists of studying how hereditary characteristics are passed on from generation to generation. DNA is the molecule in which genetic information is stored in a 4-letter code: A, C, G and T. The combination of letters is not a matter of chance. On the contrary, they combine in a precise manner because, in living things, the 4 letters make up the code for generating the instructions (genes) for synthesising all proteins. This DNA is in the nucleus of the cells linked to the histones around which DNA wraps itself, as if it were a spool of thread. […]
Any couple that turns to a fertility clinic undergoes a number of tests in order to diagnose the fertility issue that is making natural conception impossible. It is estimated that, at the end of the process, 1 in 4 couples are provided with no apparent reason for the reproduction issue. In these couples, no significant findings came up in the diagnostic tests carried out both on the male and the female partner.
Circumstances such as these generate a great deal of uneasiness and doubts in couples because, with no known reason for their infertility, they feel as if they were in no man’s land. […]
When a fertility analysis in the male partner is limited to a seminogram or spermiogram, we only get a partial view of semen quality. A seminogram only provides us with information on the number and characteristics of sperm in the ejaculate (mobility, morphology…). It does not, however, tell us anything about other aspects such as sperm DNA integrity […]
When faced with fertility issues, many people believe that this is often due to the couple’s incompatibility. The reason behind this inability to fall pregnant is often unknown and quite simply a mystery due to some form of irresolvable ‘genetic issue’. When faced with such circumstances, we can but give in and accept it and, as with all popular beliefs, there is some truth in it.
It’s estimated that around 20% of reproduction issues are down to genetics. In fact, many of the tests carried out as part of patient fertility analyses in our clinic, aim to determine if there is a genetic issue behind the couple’s difficulties falling pregnant. […]
In the year 2000, human sequencing was achieved following 10 years of scientific work and now, thanks to next generation DNA sequencing, we are able to get to know a human genome in the space of just one week. It is still not possible, however, to access 100% of the genetic information contained within an embryo, the true origin of human life. But scientific progress is unstoppable and with this new technique a new range of promising options for genetics, for fertility and for life have opened up.
According to researchers, the possibilities which DNA sequencing offers are revolutionary and huge. Despite being at a very initial stage in which only the tip of the next generation sequencing iceberg has been uncovered, the number of uses is so varied that determining how to manage everything this technique implies will, in fact, be the future’s biggest challenge.
For the time being, thanks to human sequencing, nowadays “there is greater power of analysis and this facilitates many things and very significant possibilities”, explains the scientist and molecular biology and genetics investigator at Instituto Bernabeu, José Antonio Ortiz. The new technique, which can only be carried out in leading international clinics such as IB, “has revolutionised genetics. Genetic studies are now much quicker.’ […]
When couples make the decision to have a baby, either by natural means or by resorting to assisted reproduction techniques (ART), one of their main concerns is having a full-term pregnancy and a healthy baby. Miscarriage occurs in about 10-15% of pregnancies and is regarded as a “Recurrent miscarriage” when two or more pregnancies are lost spontaneously.
The cause of “Recurrent miscarriages” may be immunological, hormonal or uterine. Yet, the most common cause is no doubt chromosomal, since it is present in more than 50% of cases. […]
Oocytes are the female gametes, cells that, upon being fertilised by the sperm, will produce an embryo. In humans, the number of oocytes that females have throughout their lives is not unlimited; they are born instead with a limited number. These oocytes gradually run out in each menstruation until their supply becomes completely exhausted at menopause.
It is said that women suffer from premature ovarian failure when menstruation ceases because the oocyte supply has become exhausted at an earlier age than the age when the natural decline of ovarian function occurs (at 50, approximately). In cases where oocytes are still produced in women suffering from premature ovarian failure, they do not respond satisfactorily to the hormones responsible for their development and maturation.
Premature ovarian failure may have important consequences for women:
Obviously, in their fertility: These women cannot conceive naturally and require assisted reproduction techniques in order to bear offspring. These patients also have a high risk that their oocytes will not respond to the In Vitro Fertilisation cycle, thus putting the success of the treatment in danger.
On the other hand, the absence of female hormones due to low ovarian activity has serious consequences for health, mainly in cases of cardiovascular disease and osteoporosis.
It is estimated that about 20% of reproductive problems are genetic or chromosomal type. That is why today genetic testing is an essential part of the fertility study in couples who come to our clinic looking for descendants.
For the diagnosis of fertility problems there is a set of genetic studies very useful in the assistance of couples with reproductive desire. Tests such as the karyotype in both partners, microdeletion of the Y chromosome in the male or the molecular study of fragile X syndrome in women are usually required tests to determine a possible genetic basis of fertility problems in couples. […]
Array-CGH: Discovering the miracles of the embryo. Comprehensive Chromosome Screening (PGS/PGT-A/CCS)
New technologies are making remarkable progress in the diagnosis of fertility. The latest development that has been incorporated into the range of diagnostic techniques is called array-CGH.
This new genetic test allows us to analyze our cells’ DNA to limits that years ago we would have considered pure science fiction.
The human genome is made up of 46 chromosomes: 23 from the father and 23 from the mother. All of our organism’s genetic information is stored in these chromosomes. The excess or defect of any chromosome region may be responsible for certain diseases or fertility problems, such as implantation failure or recurrent miscarriages. […]