Genetics

What is exome genetic testing? Types of exome genetic tests

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 […]

2019-10-04T09:09:31+02:004 de October de 2019|0 Comments

Rh incompatibility: could it affect my baby during pregnancy?

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 […]

2019-08-02T09:10:28+02:002 de August de 2019|0 Comments

Absent uterus or Mayer-Rokitansky-Küster-Hauser syndrome: what can I do?

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 […]

2019-06-05T11:41:18+02:007 de June de 2019|1 Comment

Progress in treatment for patients with poor ovarian response

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. […]

2019-01-23T10:37:32+02:0025 de January de 2019|0 Comments

The latest in pre-implantation genetic diagnosis (PGD)

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 […]

2018-12-17T18:43:53+02:0028 de December de 2018|0 Comments

DNA fragmentation in sperm: TUNEL

When a couple fails to get pregnant or has an unsuccessful pregnancy, a number of tests performed on both partners is recommended. One of the basic tests in analysis of the male partner involves performing a seminogram or spermiogram that provides us with an initial indication of semen quality. This information can be supplemented with a sperm DNA fragmentation analysis, should this be considered necessary.
The DNA fragmentation test is a technique that supplements a study of the male factor in certain cases. […]

2018-11-28T09:56:53+02:0030 de November de 2018|0 Comments

Infertility in men and cryptorchidism

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. […]

2018-11-21T10:23:53+02:0023 de November de 2018|0 Comments

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

What are the causes of recurrent pregnancy loss?

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). […]

2018-09-11T17:49:04+02:0014 de September de 2018|0 Comments

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. […]

2018-09-06T09:36:01+02:007 de September de 2018|0 Comments
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