Español 
Français 
Deutsch 
Italiano 
Nederlands 
International 
Genetic Mathching: the test to avoid hereditary diseases
At Vida Fertility, we know that pregnancy planning is an exciting process, but it is also a rollercoaster of feelings, as in many cases, it involves making decisions to ensure the health of the baby.
Today we talk to Dr. Alejandra García-Villalba, gynaecologist at Vida Fertility, about carrier genetic test, a key test to minimise the risk of genetic disease transmission.
The Genetic Matching is a test that analyses a person’s genes to detect if they carry a recessive genetic mutation.
Many of these mutations do not affect the person who has them, but if both partners carry the same genetic alteration, there is a 25% risk that their child will inherit a serious genetic disease.
What are recessive genetic diseases?
Recessive genetic diseases are diseases that only occur when a person inherits two altered copies of the same gene, one from each parent. In other words, for a recessive disease to develop, it is necessary for both parents to carry the same genetic mutation.
People carrying a recessive mutation have no symptoms and experience no health effects, as they have only one altered copy of the gene, while the other functional copy compensates for its effect. However, they can pass the mutation on to their children, and if both parents share the same genetic alteration, there is a 25% chance that their child will inherit both altered copies and develop the disease.
Such mutations can remain hidden for generations without being detected, as carriers show no signs of the disease. Only when two people with the same genetic alteration have children in common, can the pathology manifest itself in their offspring.
Probability of recessive transmission:
If both parents are carriers of a mutation in the same gene:
- 25% chance that the child will inherit the disease.
- 50% chance that the offspring will be a healthy carrier.
- 25% chance that the child will not inherit any mutation.
Since we can all be carriers of some recessive mutation without knowing it, the Genetic Compatibility Test (GCT) is a key tool to prevent the transmission of these diseases.
At Vida Fertility, we offer this test to evaluate the genetic risk of each couple and provide options to achieve a safe pregnancy. Ask us about your case.
What is the genetic matching and what is it for?
The Genetic Match Test is a test that helps to detect if a couple has a high risk of transmitting genetic diseases to their children. We all inherit genes from our parents, and sometimes, we can carry ‘mutations’ in some of them without this affecting us.
Some diseases only develop if a person inherits the same genetic ‘mutation’ from both parents. If only one parent has it, the baby will not inherit the genetic mutation, but could pass it on in the future.
This test analyses more than 2,000 genes related to inherited genetic diseases.
According to Dr Alejandra García-Villalba, ‘if a couple discovers that they both have a mutation in the same gene, they can explore other options to make sure their baby is born healthy, such as in vitro fertilisation with preimplantation genetic diagnosis (PGD) or egg or sperm donation’.
Genetic Matching for couples
Carrier testing is recommended for any couple who wish to have children and want to know their risk of transmitting hereditary diseases to their offspring.
When is genetic compatibility testing recommended?
There are situations in which it is even more important:
- Before starting assisted reproduction treatment, especially if one of the partners has a history of genetic diseases or is already known to be a carrier of a mutation.
- Before opting for gamete donation, as it allows a more precise selection of the donor (either eggs or sperm) to avoid sharing mutations with the recipient.
- In couples related by blood, where certain genetic diseases may be more frequent.
What diseases does genetic matching detect?
Around 7,000 inherited genetic diseases have been identified, which can be classified as autosomal dominant and autosomal recessive. Of these, approximately 2,000 are recessively inherited, and the Genetic Matching test allows the 600 most frequent ones to be analysed.
Autosomal recessive diseases only occur when a person inherits two altered copies of the causative gene, one from each parent. In contrast, X-linked diseases follow a different inheritance pattern, as their transmission is linked to the X sex chromosome.
Some examples of well-known autosomal recessive diseases are:
- Cystic fibrosis: affects the respiratory and digestive system.
- Thalassaemia: causes alterations in haemoglobin production.
- Phenylketonuria: is due to the absence of the enzyme PHA
Table of recessive diseases detected by the study of carriers
| Disease | Associated Gene |
|---|---|
| Alpha-1 Antitrypsin Deficiency | SERPINA1 |
| Wilson’s Disease | ATP7B |
| Cystic Fibrosis | CFTR |
| Stargardt Disease | ABCA4 |
| Omenn Syndrome | DCLRE1C |
| Androgen Insensitivity Syndrome | AR |
| Non-Syndromic Sensorineural Hearing Loss | GJB2 |
| Thomsen’s Myotonia | CLCN1 |
| Haemoglobinopathies and Alpha Thalassaemia | HBA1 |
| Tyrosinemia Type 1 | FAH |
| Pompe Disease | GAA |
| Beta Thalassaemia and Sickle Cell Disease | HBB |
| Oculocutaneous Albinism Type 1 | TYR |
| Congenital Adrenal Hyperplasia | CYP21A2 |
| Smith-Lemli-Opitz Syndrome | DHCR7 |
| Fragile X Syndrome | FMR1 |
| Alport Syndrome | COL4A3 |
| Gaucher Disease Type 1 | GBA |
| Haemophilia A | F8 |
| Haemophilia B | F9 |
| Long-Chain Acyl-CoA Dehydrogenase Deficiency | ACADVL |
Currently, there is no definitive cure for genetic diseases. However, it is possible to prevent their transmission by means of the Genetic Compatibility Test, also known as carrier screening or genetic matching. This test makes it possible to identify mutations in the genes of prospective parents and reduce the risk of their children inheriting hereditary diseases.
What is the procedure for Genetic Matching test?
The process is simple and painless.
It can be done by taking blood or a saliva sample from both parents. From this sample, the DNA is analysed using massive sequencing techniques (NGS), which allows hundreds of mutations to be studied with high accuracy.
Results are usually available in approximately four weeks, providing a detailed report with the mutations detected and a sensitivity of 98% in the identification of relevant genetic variants.
Treatment options in assisted reproduction after genetic compatibility testing
If a couple has genetic incompatibilities, there are different alternatives to reduce the risk of transmitting a hereditary disease to their future children.
- In Vitro Fertilisation (IVF) combined with Preimplantation Genetic Diagnosis (PGD). This process allows the embryos to be analysed in the laboratory and to select those that do not present the genetic mutation in common, thus ensuring a gestation without the hereditary disease.
- Gamete (egg or sperm) donation. In this case, a donor is chosen who does not carry the same mutation as the recipient, thus completely minimising the risk of the baby inheriting the disease.
Where to do the genetic matching test?
Vida Fertility Madrid
C/ Palermo 15
28043 Madrid
Vida Fertility Alicante
Avenida Óscar Esplá 1, bajo
03008 Alicante
Frequently asked questions about genetic matching test
How do I know if my genes are compatible with my partner?
As mentioned above, the Genetic Compatibility Test (GCT) allows us to identify whether both partners carry the same recessive genetic mutation, which could increase the risk of transmitting a hereditary disease to their children. If genetic incompatibilities are detected, there are options such as Preimplantation Genetic Diagnosis (PGD) in in vitro fertilisation (IVF) treatments or gamete donation to prevent the transmission of the disease.
What should I do if I am genetically incompatible with my partner?
When we talk about genetic incompatibility, we refer to situations in which both partners carry the same recessive mutation in a gene.
This means that, even if the parents do not manifest the disease, there is a 25% risk that their child will inherit both affected copies of the gene and, therefore, develop the genetic disease.
To address this scenario, we perform a Genetic Compatibility Test to identify these incompatibilities before conceiving. If we detect a mutation shared by both, the most recommended option is to resort to PGT-A IVF. With this technique, we analyse the embryos in the laboratory to determine which ones:
- They have not inherited the disease, so they can be safely transferred.
- They are carriers, but healthy, like their parents, and could also be transferred.
- They have inherited both affected copies, which means that they would develop the disease and therefore would not be used in embryo transfer.
In cases where the mutation carries a high risk to the health of the future baby, another alternative is to resort to gamete (egg or sperm) donation from a donor who does not share the same mutation.
How much does genetic matching cost?
The price of the genetic compatibility test depends on several factors, such as the clinic and the laboratory where it is carried out, as well as the number of mutations that are analysed. Obviously, the cost will not be the same if 300 genes are studied compared to a more extensive analysis of 550 genes. Therefore, the value of this test may vary depending on the scope of the genetic study performed.
How is the genetic matching test performed?
The procedure of the Genetic Compatibility Test is simple and non-invasive. It is carried out using a blood or saliva sample from the prospective parents. Through massive sequencing techniques (NGS), genes are analysed and possible mutations associated with hereditary diseases are identified.
Results are usually available within approximately four weeks, providing key information to make informed reproductive decisions.
What is the difference between karyotyping and genetic compatibility testing?
They are completely different genetic tests.
- The karyotype analyses the structure and number of chromosomes in a person, which allows the detection of chromosomal alterations responsible for fertility problems, repeated miscarriages or genetic diseases.
- The Genetic Compatibility Test (GCT) studies mutations in specific genes related to recessive diseases, in order to prevent their transmission to the next generations.
If you still have doubts about which fertility test is recommended for your case, we invite you to contact the Vida Fertility team. We are here to help you make the best decision on your path to parenthood.
