Genetics

Structural chromosome abnormalities: how do they impact the embryo and the carrier?

In comparison with the general population, there is a greater prevalence of chromosomal abnormalities amongst couples with reproduction issues. An analysis of the 46 chromosomes (23 pairs), DNA structures and highly-organised proteins that contain a living being’s genetic information is known as a karyotype. All that is needed is a simple blood sample so that […]

2020-09-21T13:37:57+02:0021 de September de 2020|0 Comments

Pharmacogenetics for the treatment of low ovarian response

The application of pharmacogenetics to ovarian stimulation will specially benefit women with low ovarian response.

What is pharmacogenetics?

There are many variables
that can modify the effects of the drugs on each person and, among them, there
are genetic factors. In recent years it became evident that the genetic profile
of patients can explain the differences in response to drugs […]

2020-09-14T10:54:37+02:0014 de September de 2020|0 Comments

Cystic Fibrosis and fertility

Cystic fibrosis is a chronic and progressive disease that appears in early childhood and affects many organs in the body, (such as the lungs, intestines, pancreas, liver…). The disease causes thick mucus production, which leads to blockages and infections.

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2020-09-15T10:28:26+02:001 de September de 2020|0 Comments

Chromosomal alterations in repeated miscarriages

Couples who get pregnant, either naturally or through assisted reproductive techniques, are especially worried about the successful outcome of the pregnancy.

Unfortunately, some pregnancies end in miscarriage or fetal loss in the week 20 of pregnancy, when the fetus is not able to survive outside of the maternal uterus.

[…]

2020-08-24T16:52:13+02:001 de August de 2020|0 Comments

Preimplantation genetic diagnosis without biopsy non-invasive: niPGT-A

What is PGD without biopsy (niPGT-A)?

The goal of in vitro fertilization is to have a healthy child. For this purpose, in the last decades different methods have been developed to perform a genetic diagnosis of the embryos (PGD) before transferring them to the uterus. These methods have been implemented to differentiate chromosomally normal embryos […]

2020-07-20T18:24:50+02:0020 de July de 2020|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.

[…]

2020-08-18T10:43:39+02:0015 de July de 2020|0 Comments

The significance of sexually transmitted diseases (STDs) in fertility

Sexually transmitted disease (STDs) are infections that are transmitted, on the whole, during unprotected sexual intercourse.  However, they can also be transferred from mother to child during pregnancy.

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2020-08-24T13:32:21+02:0013 de July de 2020|2 Comments

Difference between identical and fraternal twins

Before establishing the biological origin differences between identical and fraternal twins, let’s make a quick note on the etymology of both words.

Etymologically both terms have the same origin (Latin gemellicium) and were used interchangeably to refer to children born in the same delivery. The only difference was the use of the term fraternal twin in the popular speech twin and identical twin in the cultivated speech. However, the semantic evolution of both words has been accompanied by the numerous advances in the field of genetics and knowledge of the development of the human embryo. In fact, since they differ in the latest edition of the dictionary of the RAE:

Definition of fraternal and identical twin

[…]

2020-08-07T14:48:53+02:0017 de June de 2020|0 Comments

Children born to blood relatives

The question of relationships between blood relatives has been approached in many different ways throughout the course of history. There have been times when relationships of this kind have been commonly accepted. Whilst at other times they have been prohibited for moral, religious or even scientific reasons.

Relationships between blood relatives were actively encouraged in some primitive cultures in order to promote clan unity. For example, marriage between members of the same family in ancient Egypt. The legislation in a large number of US States currently prohibits and actively pursues relationships between first cousins.

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2020-07-16T17:34:28+02:0016 de June de 2020|0 Comments

What is Preimplantation Genetic Diagnosis (PGD)? Is PGD indicated in all patients?

Preimplantation genetic diagnosis (PGD) is a very useful tool in Assisted Reproduction for the genetic selection of embryos prior to their transfer to the maternal uterus. It allows the selection of healthy embryos for a large number of diseases and alterations, thus avoiding the transmission of hereditary diseases and the transfer of embryos that would […]

2020-08-11T19:19:08+02:0011 de June de 2020|0 Comments
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