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.’ […]

By |5 de February de 2016|Fertility, Genetics, Gynaecology, News, Reproductive biology|0 Comments

Cryopreserved embryos: Does biobank storage time affect their subsequent viability?

It has been almost 30 years since the first pregnancy from cryopreserved embryos was achieved (Trounson and Mohr, 1983). Ever since then, numbers have been steadily growing at biobanks in assisted reproduction centres, mainly due to the optimisation of reproductive treatments. Our goal is to retrieve a satisfactory amount of good quality embryos (one that is enough for a fresh transfer and also for cryopreservation) by means of an ovarian stimulation cycle. These embryos may be used for future pregnancy attempts, although couples can choose to donate them for reproductive purposes, assign them to specific research projects or dispose of them. Yet, general evidence shows that many couples, mainly those that achieve pregnancy in their first fresh attempt, choose to keep them frozen without a specific end or plan in mind for the future. […]

When will my embryos be biopsied? Why?

During the performance of assisted reproduction procedures, the best embryo is selected for transfer into the mother’s uterus. The selection is based on the “look” of the embryo shortly before transfer. As a matter of fact, waiting time normally stretches until day 5 of embryo culture in order to enhance the potential of the selected embryo and its synchronisation with the endometrium.
Sometimes the selection is favoured by performing a Comprehensive Chromosome Screening (CCS) test. Thanks to this technique, we can find out if an embryo has all the chromosomes in their exact number, in other words, if it is chromosomally normal. In this way, the selection is both morphological (external look) and chromosomal (internal look).
To be able to analyse the embryo we must first biopsy it (take a cell sample) without affecting its development and subsequent implantation. Biopsy techniques have been evolving until the process has been optimised. […]

Instituto Bernabeu strengthens is position as a European reference in matters of R&D at the Annual Congress of the British Fertility Society.

The British Fertility Society (BSF) Annual Congress, one of Europe’s leading fertility and assisted reproduction events, was held on 7th and 8th January in Newcastle (UK). Its scientific committee accepted a total of 11 pieces of research work prepared by Instituto Bernabeu (Alicante) as part of the group’s main lines of R&D. These include poor ovarian response – a pathology which is largely associated with attempts to fall pregnant later on in life –  embryo implantation failure and the impact of genetics on reproduction issues. […]

Assisted Reproduction in women who do not have a male partner

In modern society, the increasing demand for assisted reproduction techniques from single women and same-sex couples has become a reality. From the perspective of reproduction, women only need to receive the male gamete (sperm). For years, these couples have solved the problem in ways that have not always been medically or legally safe and have had to face the possibility of infectious diseases and paternity suits.
Today, these inconveniencies are solved in assisted reproduction centres, where procedures that meet their demands and offer them a solid and safe foundation are regularly performed.
Thanks to Assisted Reproduction Techniques (ART), Reproductive Medicine enables us to distinguish the fact of reproduction from the act of intercourse between two people. Several options for motherhood are offered to both single women and […]

Comprehensive Chromosomal Screening (CCS): More reliable and less damaging for embryos

The necessary information for an adequate development of human beings is contained in some “books” called genes; they are written in an “ink” called DNA. Our total number of genes is found in the 46 chromosomes that we inherit from our parents, and it should have no excesses or deficiencies, since these could cause serious diseases and malformations, and even put our life in danger.
Human embryos have a high rate of chromosomal alterations, especially in the case of couples with fertility problems, such as recurrent miscarriages and implantation failures. For this reason, when we are in the In Vitro Fertilisation (IVF) laboratory with a couple’s embryos, we already know it is very likely that many of them are chromosomally abnormal.
Only embryos with no excesses or deficiencies in their DNA have the capacity to produce a healthy newborn. Therefore, by identifying and selecting an embryo with a full chromosome count, we manage to guarantee that the embryo has maximum capacity to produce a healthy child. […]

Usefulness of Comprehensive Chromosomal Screening (CCS) in Recurrent Miscarriages

When couples make the decision to have a baby, either by natural means or by resorting to assisted reproduction techniques (ART), one of their main concerns is having a full-term pregnancy and a healthy baby. Miscarriage occurs in about 10-15% of pregnancies and is regarded as a “Recurrent miscarriage” when two or more pregnancies are lost spontaneously.

The cause of “Recurrent miscarriages” may be immunological, hormonal or uterine. Yet, the most common cause is no doubt chromosomal, since it is present in more than 50% of cases. […]

Accumulation of oocytes in patients with a low response.

The number of oocytes retrieved is a key prognostic factor in In Vitro Fertilisation (IVF) treatments. Chances are greater the greater the number of retrieved oocytes is, until the moment when 6 to 8 oocytes have already been retrieved.
For this reason, care of patients with a Low Response should be especially thorough, both as regards the chosen protocol for ovarian stimulation and the processes of oocyte retrieval and management at the laboratory. In these cases, retrieving an extra oocyte may considerably increase the chances of success.
While many of these patients benefit from the implementation of specific stimulation protocols and the use of adjuvant therapies, some of them will be refractive and will yield a very poor response.
The appearance of vitrification as a successful technique to freeze both oocytes and embryos has stirred new expectations in patients with a low response at the possibility of accumulating vitrified oocytes from several stimulation cycles. This way, after performing a number of oocyte collection cycles and once collecting a number between 6 and 8 oocytes has been achieved, the processes of fertilisation begin. In this case, prognosis is more favourable, as patients now have more or less the same number of oocytes as those patients with a normal response. […]

Five years of time-lapse: Just another passing trend?

Time-lapse involves continued observation of embryo development by means of a videocamera that can be placed inside a conventional incubator or used as its own incubator to make a film of the evolution of the embryos. A software programme reconstructs the images and allows us to follow the development of the embryos.
Its appearance five years ago, launched by a great advertising campaign, promised to improve embryo selection. Conventional embryo morphology criteria were called into question and it was introduced as the new “leading” tool.
[…]

Are PGD, PGS and CCS all one and the same?

Pre-implantation Genetic Diagnosis (PGD) is a combination of techniques carried out on embryos prior to transfer to the womb with the aim of studying possible chromosomal and/or genetic disorders. Its purpose is to ensure healthy offspring and stop disorders from being passed on to children.
The 21st century has witnessed huge steps being made in terms of embryo abnormality analysis. The range of diagnosis options and the reliability of techniques have converted something which was only a pipe-dream a few years ago into a reality. Nowadays, such techniques are routine and Instituto Bernabeu is a worldwide leader in providing its patients with the latest in embryo genetic diagnosis.
This revolution has led to a number of new testing techniques coming to the fore. Most of them are known by their initials and, in many cases, this has turned PGD into mumbo-gumbo for patients who end up getting them mixed up and confused. We would like to use this forum to shed some light on this sea of initials. […]