Instituto Bernabeu BIOTECH

The impact of Turner syndrome on women

Turner syndrome is a chromosomal condition caused by partial or total loss of one of the X chromosomes.
All human beings have 23 pairs of chromosomes and this is what is known as the karyotype. It is where all genetic information is stored. In other words, it is what determines our external appearance, our personal physical characteristics, how our organs work, whether or not we will have certain illnesses and so on. There are 22 pairs of numerical chromosomes ranging from 1 to 22 and one pair of sex chromosomes: X and Y. Women have two X chromosomes – one from their father and one from their mother. Men have one X chromosome – from their mother – and one Y chromosome – from their father. If, when a female embryo is generated, incorrect division leading to total or partial loss of the X chromosome takes place, this generates an abnormal karyotype that is characteristic of women with Turner syndrome. The syndrome, by definition, does not occur in males because they only have one X chromosome and cannot live unless this chromosome is present. […]

2018-11-14T11:19:07+02:0016 de November de 2018|1 Comment

How do genetics and epigenetics affect the embryo?

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. […]

2017-10-27T11:32:14+02:0027 de October de 2017|0 Comments

Should embryos with chromosomal mosaicism be rejected?

When good quality embryos do not implant correctly or lead to pregnancy loss, in vitro fertilisation (IVF) does not provide us with the results we had hoped for. This is often because the embryo is a carrier of abnormal chromosomes. Fortunately, in our clinic, we have access to the very latest in embryo chromosome diagnosis techniques such as array CGH and next generation sequencing (NGS). We can use this technology to detect abnormalities in the embryo that will cause pregnancy loss or that will lead to the birth of a child with chromosomal abnormalities such as Down’s Syndrome, also known as trisomy 21. As such, we can use these techniques to select and transfer the embryos with the greatest chance of leading to the birth of healthy child. […]

2018-03-26T17:47:29+02:0025 de August de 2017|0 Comments

You can avoid passing hereditary diseases on to your children by taking the GCT (Genetic Compatibility Test)

Our Genetic Compatibility Test (GCT) based on next-generation DNA sequencing analyses over 600 diseases.
For a person with an hereditary disease, eliminating the chance of passing that disease on to their children becomes a desire as well as the very best gift they could give them. Sometimes, parents don’t even know they are carriers of a disease. A person with an hereditary disease will pass it on to his or her children. Sufferers carry a heavy weight upon their shoulders because they are aware that they will pass on health issues to their children and that this will have a negative impact on their quality of life or lead to premature death. In most cases, we are carriers of one recessive disease or another, but our health is not affected by it. However, there is the possibility that we might pass that disease on to our children. […]

2019-04-10T09:10:24+02:0024 de February de 2017|0 Comments

Male fertility tests

When a couple is faced with difficulties getting pregnant, there is approximately a 50% chance of the reason for this being a factor in the male partner.
The main cause of fertility issues in men is poor semen quality. Therefore, various parameters in semen need to be analysed in order to determine what the quality of the semen is. Two parameters are particularly important: the concentration or quantity of sperm in semen and their motility. This needs to be adequate in order to ensure that the egg is fertilised.
There are several quick tests available on the market. They are similar to female ovulation tests and they are understood to carefully evaluate semen quality and determine if a man is fertile or not. But are these tests really useful in understanding semen quality? […]

2016-10-20T18:04:30+02:0021 de October de 2016|0 Comments

Genetic compatibility in couples

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. […]

2019-04-10T09:19:54+02:007 de October de 2016|0 Comments

The endometrial receptivity array (ERA) test

Embryo implantation is the least well known phase of reproduction within the field of reproductive medicine. This fact is of special relevance if we also take into account that the human embryo is not very efficient when compared to other closely-related species in the evolution timeline.
We currently know that pregnancy is based upon three basic pillars: the embryo, the endometrium and the tolerance of the mother’s immune system. Not only is it essential that all three function correctly, but there needs to be optimum interaction between them. We have already covered the role of the embryo and the immune system in detail. Therefore, we will now concentrate on the endometrium and, more specifically, on studying endometrial receptivity. […]

2017-10-02T14:50:28+02:009 de September de 2016|0 Comments

Poor Ovarian Response: progress in genetics

Ovarian stimulation is key in results obtained as a results of assisted reproduction techniques. Daily clinical practice shows us that ovarian response can vary substantially from one woman to another. With this in mind, we can diagnose a patient as a poor responder when three eggs or less are obtained.
This situation affects more and more women every day. They require specialised healthcare and personalised protocols and, in response to this need, Instituto Bernabeu has a Poor Ovarian Response Unit that deals with multidisciplinary diagnosis and treatment.
For patients under this category, obtaining one or more eggs can mean the difference between failure and pregnancy and this makes any steps taken to increase the number of available eggs absolutely essential. […]

2016-08-12T13:40:07+02:0015 de April de 2016|0 Comments

The option of avoiding serious illnesses in our children: a study on recessive disease carriers

Recessive diseases are hereditary diseases. They are not common but they are often serious and incurable. They have the peculiarity that a person may be a carrier but does have any health issues. It is for this reason that they are called ‘healthy carriers.’
This circumstance makes diagnosis particularly difficult since we can come across families in which there are entire generations without the disease or in which the disease has not previously come to light. As such, until recently, it was impossible or very difficult to know if a person was a carrier or not.
Most of us are healthy carries of some form of recessive disease and, on the whole, this is not an issue as long as our partner is not a carrier of the same disease, in which case there are implications for our children. […]

2016-08-04T13:50:32+02:0026 de November de 2015|0 Comments
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