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

Why does the PGT-A preimplantation genetic test (PGT) decrease the miscarriage rate?

Miscarriage rates in the general population with no fertility problems range around 15-20%. In other words, one out of every five couples who achieve pregnancy suffers a spontaneous miscarriage, and 5% of these couples suffer it more than once. Even when pregnancy is achieved with the help of assisted reproduction techniques, miscarriage rates do not vary. For this reason, it is important when couples come to our clinic seeking reproductive counselling to perform comprehensive testing and design an adequate protocol for their case to secure the best result, which is a healthy baby at home, minimising the chances of miscarriage. In order to do that, one should know that miscarriages and pregnancy losses are caused by different reasons (uterine problems, immunological problems, and so on), and yet in half the cases there are chromosomal abnormalities in the embryo that prevent pregnancies to progress, hence causing miscarriages.

Role of genetics in miscarriages

Normal embryos have two copies of each chromosome, one inherited from the father and the other from the mother, and the chromosomal anomalies they may suffer involve a change in the number of copies, producing an imbalance in their genetic load which might block embryo development.


2020-07-29T09:01:17+02:0012 de February de 2016|0 Comments

A revolution in genetics: next generation DNA sequencing

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.’ […]

2016-08-04T13:21:22+02:005 de February de 2016|0 Comments

New diagnosis technique for male sterility and missing genetic material (Y chromosome microdeletions).

We all have 46 chromosomes: 23 of them are inherited from our father and 23 are from our mother. The genetic information for our entire body is stored within these chromosomes. Two of the 46 are sex chromosomes and determine whether we are male (XY) or female (XX). Therefore, the Y chromosome contains all the necessary information for differentiating males from females as well as for sperm production.
The study of Y chromosome microdeletions consists of checking if chromosome Y is complete and, as such, has all the necessary information for satisfactory sperm production or if, on the contrary, small fragments are missing. The loss of such fragments leads to altered spermiogramme which can mean poor sperm production (oligozoospermia) or even no production at all (azoospermia). […]

2017-08-28T13:31:45+02:0023 de September de 2015|0 Comments
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