The human genome is composed of 20,000 genes. Genes contain information for synthesising all the proteins in our bodies and these proteins carry out various biological functions. The information is contained in regions called exons and they are separated by regions called introns that do not contain any information. The complete set of exons in our genome […]
A person’s blood group is determined by a number of proteins
that are found on the surface of red blood cells. There are 4 main blood groups
depending on if these proteins are present or not: A, B, AB and 0. An
additional protein known as factor Rh has also been located on the surface. If
a person has […]
Mayer-Rokitansky-Küster-Hauser syndrome – or simply MRKH syndrome – is a congenital disorder (birth defect), the main characteristic of which is that the women who suffer from it do not have a uterus.
The cause of this infrequent condition (1 in 5,000 female births) is an abnormality during development of the internal genitalia during the embryo/foetus stage. As well as an […]
Personalising courses of treatment is undoubtedly currently the
most important area of change in the field of medicine. A specific strategy should be designed
depending on each patient’s individual characteristics.
One of the key areas for developing personalised medical healthcare is the use of pharmacogenetics. A patient needs different doses or types of pharmaceutical drugs depending on certain genetic variations. […]
Pre-implantation genetic diagnosis(PGD) consists of studying chromosomalabnormalities and genetic abnormalities in the embryo prior to transfer to the mother. Itspurpose is to ensure that children are healthy and to bring thetransmission of a given condition to an end.
Significant progress that has revolutionised this area ofreproductive medicine has been made over the last few years and specificallywith regards to one type […]
Cryptorchidism, from the Greek words kriptos (hidden) and orquis (testicle), is the failure of one or both testes to descend to the scrotum. It is estimated that between 2 and 5% of newborn boys have this abnormality although the figure rises to 30% when premature boys are taken into account. In many cases, the issue resolves itself naturally and, as a result, at one year of age, only 1% of boys have the condition. […]
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. […]
Spontaneous abortion is defined as an unexpected pregnancy loss before the foetus is viable. In other words, before week 22 of pregnancy and under 500g in weight. The frequency rate of spontaneous abortion is estimated to be between 15 and 20% amongst the general population and it is the most common of all complications during pregnancy.
A small percentage (between 2 and 5%) of cases are recurrent and this is what is known as recurrent pregnancy loss (RPL). […]
The advantages of comprehensive chromosome screening (PGS/PGT-A/CCS) in women of an advanced maternal age
Women currently seek guidance on reproduction at a much older age than they did some years ago. As a result, amongst the women who undergo fertility treatment, there is a significant group of women of an advanced age and their prognosis is poorer. This is a huge challenge for reproduction specialists. […]