{"id":70884,"date":"2023-09-26T11:57:53","date_gmt":"2023-09-26T10:57:53","guid":{"rendered":"https:\/\/fertilityroad.com\/?p=70884"},"modified":"2025-01-29T10:57:41","modified_gmt":"2025-01-29T10:57:41","slug":"embryo-pre-implantation-genetic-diagnosis-pgt-a-the-genetics-revolution","status":"publish","type":"post","link":"https:\/\/fertilityroad.com\/nn\/mag\/embryo-pre-implantation-genetic-diagnosis-pgt-a-the-genetics-revolution\/","title":{"rendered":"Embryo Pre-implantation Genetic Testing: PGT-A"},"content":{"rendered":"

Experts at Instituto Bernabeu warn that embryo biopsy increases pregnancy rates and reduces miscarriage risk and chromosomal alterations, but it is not always necessary.<\/p>\n\n\n\n

Chromosomal alterations in embryos are one of the main causes of low pregnancy rates. Therefore, one of the strategies applied by fertility gynaecologists to improve embryo implantation is the pre-implantation genetic diagnosis of aneuploidy (PGT-A), which allows us to know with high precision which embryos are altered, even though they do not appear to be so.<\/p>\n\n\n\n

In 1978, the birth of Louise Brown, the first child born through in vitro fertilisation (IVF), opened the path for a new science that never stops researching and currently allows the birth of millions of people around the world. Advances in technology and genetics have enabled thousands of couples around the world to have a child thanks to assisted reproduction techniques. And, in a relatively short time, very significant advances have been made in reproductive medicine.<\/p>\n\n\n\n

Today, infertility has become a problem of global impact. The World Health Organisation (WHO) has already warned that one in six people in the world, regardless of their location, suffer or will suffer from infertility. In this regard, continued research is essential. After years of development, genetics has already become a great ally in achieving pregnancy, as scientists have been able to prove that genetic alterations are behind many of the problems preventing offspring.<\/p>\n\n\n\n

To contribute to an accurate diagnosis, personalising treatments according to the individual profile of each patient and to avoid the birth of babies with hereditary diseases are the main objectives of Instituto Bernabeu\u2019s specialists in genetics and molecular biology. This group is specialised in reproductive medicine, which stands out worldwide for its research and genetics studies applied to treatments, thanks to its own genetics laboratory, IBbiotech, and the specialisation and experience of its specialist doctors and embryologists.<\/p>\n\n\n\n

You might be interested in: The Good, The Bad And The Baby Maker \u2013 Embryo Quality \u2013 Grading Systems<\/a><\/p>\n\n\n\n

Age is a risk factor<\/h2>\n\n\n\n

Society\u2019s current trend to delay motherhood means that women decide to become mothers later than biologically advisable. As women get older, their ovarian reserve decreases and the probability of their eggs having chromosomal alterations (aneuploidy) increases, according to Instituto Bernabeu. The impact in a healthy woman, who is physically at an optimum moment, to learn that she cannot have children with her own eggs, is enormous. With four decades of dedication to reproductive medicine, and a pioneer in the development of assisted reproduction techniques, Instituto Bernabeu\u2019s medical director, Dr Rafael Bernabeu, has experienced the science\u2019s evolution, the improvement of treatments, which today have been simplified, and the tendency to have a child later and later. Even so, Dr Bernabeu warns that women\u2019s reproductive capacity has not changed or evolved in the last 100 years. <\/p>\n\n\n\n

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As women age, the chances of producing healthy embryos decrease, leading to increased rates of aneuploidy (abnormal chromosome count) and higher miscarriage rates. By using PGT to identify chromosomally normal embryos, the chances of a successful pregnancy can be substantially increased. Recent research has shown that as long as the embryo is chromosomally normal, the pregnancy success rates remain consistent regardless of maternal age.<\/p>\nDr \u00c1ngela Llaneza, a fertility specialist at Clinica Tambre<\/a> explains<\/cite><\/blockquote>\n\n\n\n

From the age of 35, ovarian reserve begins to fail, women have fewer oocytes and these are of poorer quality because from the time a woman enters fertile age, with her first period, she begins to release the best oocytes in each cycle and gradually loses quantity and quality.<\/p>\n\n\n\n

You may be interested in reading:<\/strong> IVF over 50 – best clinics and availability<\/a><\/p>\n\n\n\n

Patients from all over the world<\/h3>\n\n\n\n

Every year, Instituto Bernabeu<\/a> receives thousands of couples from all over the world in search of solutions to their reproductive problems at its Spanish clinics in Madrid, Alicante, Albacete, Cartagena, Elche, Benidorm and one in Italy, located in Venice. Dr Ruth Morales, the Genetic and Reproductive Counselling Unit Director at Instituto Bernabeu, explains that molecular biology has undergone great advances allowing the development of techniques capable of analysing all chromosomes from one or several cells thanks to the embryo biopsy.<\/p>\n\n\n\n

Instituto Bernabeu\u2019s Genetic and Reproductive Counselling Unit explains that the incorporation of massive sequencing (NGS, Next Generation Sequencing) has improved diagnosis by increasing the visualisation capacity to discover what scientists call \u201csmall segmental alterations\u201d, undetectable with the old techniques; and chromosomal mosaicism, when the embryo presents a mixture of chromosomally normal and abnormal cells.<\/p>\n\n\n\n

A book of 46 chromosomes<\/h2>\n\n\n\n

The book of life of each person is written with 46 chromosomes, 23 are provided by the father and 23 by the mother. Only embryos with the correct number of chromosomes can give rise to a healthy child, the others will block themselves, end in miscarriage or the birth of a baby with congenital malformations. For example, an extra copy of chromosome 21 would be the cause of Down\u2019s syndrome (trisomy 21). Other common chromosomal abnormalities (aneuploidies) are trisomy 18; trisomy 15; or 47 XXY (Klinefelter syndrome).<\/p>\n\n\n\n

Strategy to increase pregnancy rates in specific cases<\/h2>\n\n\n\n

Instituto Bernabeu is a pioneer in the use of PGT-A and stays at the forefront with continuous studies published in international scientific journals. So much so that it is one of the first centres in the world performing embryo biopsy on day 5\/6 for years, analysing several cells of the trophoectoderm (the future placenta), \u201cwhich allow us to be more efficient in the diagnosis\u201d. Even so, experts do not recommend this technique in all cases. \u201cIt is not a fad, nor can we recommend it in all cases, only when the physician considers it necessary should it be performed. We base the prescription on criteria related to the patients\u2019 age or medical history\u201d, specialists point out.<\/p>\n\n\n\n

What is the usual procedure?<\/h2>\n\n\n\n

In Vitro Fertilisation (IVF) is the most common procedure in assisted reproduction treatment. In the laboratory, eggs are fertilised with sperm. The embryos are placed in incubators for the first few days of development. At the embryo\u2019s blastocyst stage, day 5 or 6 of embryo culture, PGT-A is performed if necessary. The usual procedure involves the embryo\u2019s cryopreservation after the test until the experts receive the test results. Having our own unit and specialised laboratories within the clinic means significant advantages for specialists and patients. \u201cOur team has everything necessary to carry out the tests in the laboratories, which means faster feedback in results and greater confidence and security for our patients during their treatment and results\u201d, explains Dr Morales.<\/p>\n\n\n\n

Once the results have been obtained, and before the embryo transfer, the experts carry out a genetic counselling consultation with the patients, in order to explain the results in detail and to inform them of the next steps.<\/p>\n\n\n\n

For which patients is PGT-A recommended?<\/h2>\n\n\n\n

PGT-A is a test recommended for specific cases.<\/p>\n\n\n\n