Pre-implantation genetic diagnosis (PGD) is the general name given to the tests performed on the embryo prior to transfer to the mother's uterus.
This test aims to detect and prevent the transmission of serious genetic or chromosomal diseases to the future baby. This technique ensures that babies are born free of these genetic diseases.
This technique consists of performing an embryo biopsy in which some cells are removed from the developing embryo (around day 5 of its growth).
Genetic material is taken from inside these cells to be analysed to identify whether the disease in question is present. This allows us to select an embryo free of the disease and transfer it to the future mother.
DIAGNOSIS
Pre-implantation genetic diagnosis or PGD has been given different names depending on the problem to be studied. Since 2017 there has been a new consensus on terminology among the world's leading assisted reproductive technology associations.
Thus, the term PGT (Preimplantation Genetic Testing) is used, to which the initials of the type of anomaly studied are added.
This is used to detect numerical anomalies (aneuploidy).
The normal number of chromosomes is 23 pairs, 22 plus the sex pair: XX or XY. In Down's syndrome, chromosome number 21 appears triplicated.
Other common aneuploidies in live-born babies are: trisomy 18 (Edwards' syndrome), trisomy 13 (Patau's syndrome), Turner's syndrome (in females, total or partial absence of an X sex chromosome) or Klinefelter's syndrome (males born with an extra X chromosome).
There are several types of structural alterations, either with or without gain/loss of genetic material: deletions, inversions, translocations, duplications, insertions or rings.
Some of these chromosomal abnormalities compromise the viability of the embryo (non-implantation or miscarriage) and others would result in a disease in the future baby.
It studies hereditary diseases due to mutation or alteration in the DNA sequence of a certain gene.
Also known as Mendelian inherited diseases, they can be of 3 types: Autosomal recessive diseases, autosomal dominant diseases and X-linked diseases.
This new system allows, in addition to all the advantages of traditional PGT-A, to know the origin of the aneuploidy, that is, whether it comes from the female gamete or the male gamete, which makes it possible to decide whether to resort to egg or sperm donation.
In addition, it allows us to confirm whether the embryo has indeed been made with the egg and sperm of the couple and to recover true embryos with two pronuclei, a type of embryo that can be valid for transfer and that are usually discarded. In this way, extra embryos can be obtained for treatment.
PGT-A (Preimplantational genetic diagnosis of aneuploidy)
This is used to detect numerical anomalies (aneuploidy).
The normal number of chromosomes is 23 pairs, 22 plus the sex pair: XX or XY. In Down's syndrome, chromosome number 21 appears triplicated.
Other common aneuploidies in live-born babies are: trisomy 18 (Edwards' syndrome), trisomy 13 (Patau's syndrome), Turner's syndrome (in females, total or partial absence of an X sex chromosome) or Klinefelter's syndrome (males born with an extra X chromosome).
PGT-SR (Preimplantation Genetic Testing for structural diseases)
There are several types of structural alterations, either with or without gain/loss of genetic material: deletions, inversions, translocations, duplications, insertions or rings.
Some of these chromosomal abnormalities compromise the viability of the embryo (non-implantation or miscarriage) and others would result in a disease in the future baby.
PGT-M (Preimplantation Genetic Testing for monogenic diseases)
It studies hereditary diseases due to mutation or alteration in the DNA sequence of a certain gene.
Also known as Mendelian inherited diseases, they can be of 3 types: Autosomal recessive diseases, autosomal dominant diseases and X-linked diseases.
PGT-A Complete (Preimplantational genetic diagnosis of aneuploidy)
This new system allows, in addition to all the advantages of traditional PGT-A, to know the origin of the aneuploidy, that is, whether it comes from the female gamete or the male gamete, which makes it possible to decide whether to resort to egg or sperm donation.
In addition, it allows us to confirm whether the embryo has indeed been made with the egg and sperm of the couple and to recover true embryos with two pronuclei, a type of embryo that can be valid for transfer and that are usually discarded. In this way, extra embryos can be obtained for treatment.
PATIENTS
Recommended for women over 35 years of age. As the mother-to-be gets older, egg quality decreases and the risk of producing an embryo with chromosomal abnormalities increases.
It is recommended for couples undergoing fertility treatment, as there is a risk of chromosomal abnormalities in any pregnancy.
It is indicated for couples with a family history of chromosomal problems.
Couples who have suffered implantation failure in a previous in vitro fertilisation treatment.
For couples opting for a single embryo transfer.
Patients who want to avoid future cryopreserved embryo transfers in vain.
Dr. Elisa Pérez, from IVF-Life Donostia
FIND ANSWERS TO YOUR QUESTIONS
Chromosomal abnormalities can be divided into two types: numerical and structural.
These diseases, also known as Mendelian inherited diseases, can be of three types:
Autosomal recessive disease: occurs when two copies (maternal and paternal) of a mutated gene coincide in the genome of the affected person. In this case, the parents are carriers of a copy without having the disease. The chance of having a child who develops the disease if both parents are carriers is 25%. Examples of inherited diseases are cystic fibrosis and spinal muscular atrophy.
Autosomal dominant disease: in this case only one copy of the defective gene is needed for a person to develop an autosomal dominant disease. The probability of offspring inheriting the disease from a parent with the disease is 50%. Examples of autosomal dominant diseases are Huntington's disease and Steinert's myotonic dystrophy.
X-linked disease: occurs when the mutated gene is located on the X chromosome and are diseases that can be transmitted either dominantly or recessively. For example, haemophilia A and Fragile X syndrome are inherited diseases.
PGT can help select embryos without genetic abnormalities, but it does not increase IVF success rates in all cases nor does it guarantee pregnancy.
The use of PGT is not necessary in all cases and should be determined medically based on each patient’s individual factors.
WHAT OUR PATIENTS SAY
Privacy Policy
IVF-LIFE, hereby informs you of its privacy policy applied to personal data. The use of the website does not imply that the user must provide any information regarding their identity, and cannot be associated with a specific user by the company. In the event that personal data is provided, this data will be collected and used in accordance with the limitations and rights set out in the aforementioned regulation.
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DATA CONTROLLER: IVF SPAIN ALICANTE S.L.U (hereinafter IVF-Life)
CIF: B-54973227
Postal Address: Avenida de Ansaldo, no. 13, 03540, Alicante (Alicante)
Contact with the Data Protection Officer: dpo@ivf-life-group.com
DATA CONTROLLER: Instituto Vasco de Fertilidad (hereinafter IVF-Life)
CIF: B95575874
Postal Address: Avenida de Tolosa, 71-73, 20018 Donostia / San Sebastián (Spain)
Contact with the Data Protection Officer: dpo@ivf-life-group.com
DATA CONTROLLER: IVF Spain Madrid (hereinafter IVF-Life)
CIF: B 85138113
Postal Address: C/ de Manuel de Falla, 6-8, 28036 Madrid (Spain)
Contact with the Data Protection Officer: dpo@ivf-life-group.com
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The use of certain services or requests addressed to IVF-LIFE are subject to the prior completion of the corresponding form. All the information provided by the User through the forms on the Portal for the above purposes or any other must be truthful.
To this end, the User guarantees the authenticity of all the data provided and will keep the information provided to IVF-LIFE perfectly up to date so that it corresponds at all times to the User's real situation. In any case, the User will be solely responsible for any false or inaccurate statements made and for any damage caused to IVF-LIFE or third parties because of the information provided.
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For the processing of data, IVF-LIFE adopts the security levels required by current European and national legislation on the Protection of Personal Data. Notwithstanding the above, technical security in a medium such as the Internet is not impregnable and there may be leaks due to the malicious actions of third parties.
Our services are aimed at people of legal age, in the event that some of our services are specifically aimed at minors, IVF-LIFE will request the consent of parents or guardians for the collection of personal data or, where appropriate, for the automated processing of data as set out in current legislation. If the User is a minor, they are required to have the prior consent of their parents or guardians before proceeding to the inclusion of their personal data in the forms on the Website.
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Depending on how you interact with our website, we will process your personal data for the following purposes:
To deal with requests or requests that you make through the different means incorporated into our website.
We only process the personal data that is strictly necessary to manage or resolve your request or application.
For marketing purposes
To the extent that you subscribe to our newsletter, your personal data will be used for the periodic sending of company newsletters.
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Usability and quality analysis to improve our services (cookies).
If you access our platform, we inform you that we will process your browsing data for analytical and statistical purposes, i.e. to understand how users interact with our platform and thus be able to make improvements to it. Likewise, we sometimes carry out quality actions and surveys aimed at finding out the degree of satisfaction of our customers and users and detecting those areas in which we can improve.
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The legal basis that allows us to process your personal data also depends on the purpose for which we process them, so we will find different legal bases under the following purposes:
Attention to requests for information.
The legal basis for the processing of your data is the informed consent to respond to queries raised through the website, forms and other means provided, which implies the prior reading and acceptance of these conditions by the interested party.
Marketing
The legitimate basis for processing your data for marketing purposes is the consent you provide.
Social networking
The basis of legitimacy is the informed consent to respond to queries raised through the social network, as well as the time when you follow us and want to be part of our contact list.
Usability and quality analysis (cookies)
User consent to the use of cookies.
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Request for information. We will process your data for as long as it is necessary to deal with your request or request and thereafter 1 year.
Marketing
We will process your data until you unsubscribe or cancel your subscription to the newsletter.
Social media
We will process your data for as long as it is necessary to deal with your request and for as long as you are a follower of our profile.
WILL WE SHARE YOUR DATA WITH THIRD PARTIES?
Personal data will not be transferred or communicated to third parties, except: legal obligation, we obtain your express consent, or we understand that there is a legitimate interest on our part, which will be duly communicated to you.
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You can access these social networks voluntarily and through the links available on the website itself or by accessing directly and on your own from your browser or installed app.
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In order to consent to our transfer from this website and the processing of your data, you should carefully read the privacy policy of the social network you wish to access:
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Spotify: Spotify Privacy Policy
In this way, before clicking on the logos of the SS. RR. present on our website, you can inform yourself and make a redirection with prior knowledge of the processing of your data and on a voluntary basis.
Other technological services:
- WhatsApp: WhatsApp Privacy Policy
- Companies of the "IVF LIFE Group" on the legal basis of consent or legitimate interest: Instituto Vasco de Fertilidad S.L.U., with NIF B95575874 and address at Avda Tolosa, 71-73 Donostia (Gipuzkoa), and IVF Spain Madrid S.L., with NIF B85138113 and address at Calle Manuel de Falla, 6-8, 28036 Madrid.
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We undertake to respect the confidentiality of your personal data and to guarantee you the exercise of your rights.
You may exercise them free of charge by sending us an e-mail to our address above, simply by providing proof of identity, the reason for your request and the right you wish to exercise.
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Ask us for access to the data we hold about you.
Ask us to rectify the data we already hold about you. Please note that by actively providing us with your personal information in any way, you warrant that it is true and accurate and you undertake to notify us of any changes or modifications to it.
Ask us to delete your data to the extent that they are no longer necessary for the purpose for which we need to process them as we have previously informed you, or to the extent that we no longer have the legitimacy to do so.
Ask us to restrict the processing of your data, which means that in certain cases you may ask us to temporarily stop processing the data or to keep it longer than necessary when you may need it. If you have given us your consent to process your data for any purpose, you also have the right to withdraw your consent at any time.
To receive the personal data concerning you that you have provided to us in a structured, commonly used and machine-readable form and to transfer it to another data controller.
Moreover, where the processing of your data is based on our legitimate interest, you also have the right to object to the processing of your data.
Finally, we inform you of your right to lodge a complaint with the relevant data protection supervisory authority, with the Spanish Data Protection Agency.
CHANGES TO THE PRIVACY POLICY
We may change the information contained in this Privacy Policy from time to time. If we do so, we will notify you by various means through the Platform, or we will notify you at your email address when the change in question is significant to your privacy, so that you can review the changes, assess them and, where appropriate, object to or unsubscribe from any service or functionality.
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