By Dr. Llanos Medrano. Article updated and medically reviewed on 28/10/2026 by Manuel Izquierdo (Licensed Gynecologist – 280308601).
Recessive genetic diseases are those in which both copies of the same gene must be altered for the disease to manifest. Although this is not always the case, in this article we will explained in detail what they are, how they are transmitted and how we can detect them to prevent them from being inherited by the next generation.
Among the diseases that are genetically transmitted from parents to children, we can differentiate two groups: dominant genetic diseases and recessive genetic diseases.
To explain this type of condition properly, we first need to understand that all human beings inherit 23 chromosomes from their mother and another 23 from their father, which usually form 23 pairs. This inheritance occurs at random, so if one of our parents is a carrier of a recessive genetic condition, we may also be a carrier or even develop the condition ourselves if we inherit the relevant variant from both parents.
In other words, for a recessive genetic condition to manifest, we need to inherit the mutation in the same gene from both parents. When both parents are carriers of genetic variants associated with the same autosomal recessive condition, there is a 25% chance that their child will inherit both variants and develop the condition, a 50% chance that the child will be a carrier without developing the condition, and a 25% chance that the child will inherit neither of the two familial variants. These probabilities apply independently to each pregnancy.
The autosomal recessive diseases manifest with the inheritance of both pairs of chromosomes carrying the disease, except in the case of X-linked diseases. Among the autosomal recessive diseases, we can find:
Recessive genetic disorders, such as the ones we have mentioned above, can be directly inherited from the parents without the need for them to have symptoms, as they might simply carry the disease. Because it is a recessive disorder, the mutation must be present in both pairs of the same chromosome inherited from both parents for it to manifest in the child that carries it.
If the genetic disorder is inherited from one parent, the child will only carry the disorder, and will not manifest it. However, it can be transmitted to the next generation. Therefore, regardless of whether there are signs in the family or not, it is important to conduct a preliminary study of both parents before having a baby. This study can prevent from transmitting these diseases to the child. Additionally, sharing the results with other family members can be beneficial, as they are likely to carry the disorder.
There is a 25% chance of transmitting a recessive disease to our children, but if both parents suffer from the same mutation in a chromosome, the descendants can indeed have symptoms of this recessive genetic disorder.
In the case of a recessive disease mutation linked to the sexual chromosome X, if a woman carries the mutation, she has a 50% chance of transmitting it to her offspring. If the offspring is a male, he will manifest the symptoms in case he inherits the X chromosome from the mother that carries the disorder, as he will inherit the chromosome Y from his father. If the offspring is female, there is also a 50% chance of inheriting the mutation. However, in this case, the daughter would only carry the mutation and would not manifest the symptoms.
In some cases, the inheritance of recessive genetic diseases that manifest can affect the pregnancy and lead to miscarriage. Therefore, for couples that are undergoing fertility treatments, we recommend to undergo a genetic compatibility test in order to detect these disorders in the parents. This ensures that the children will not carry or will not manifest the disease in the future.
This test is known as the carrier panel. These tests can identify genetic variants associated with inherited recessive conditions and X-linked conditions. They are usually carried out using a blood or saliva sample and can screen for a wide range of conditions, depending on the panel used. Their aim is to identify potential risks of passing these conditions on to offspring before starting a pregnancy or undergoing fertility treatment.
This test is recommended for anyone planning to have a baby, as it can significantly help in preventing their children from inheriting the genetic diseases they may carry. This also prevents the children from becoming carriers or manifesting the diseases. Above all, it is recommended in cases where fertility treatment is planned or in situations where there have been difficulties in carrying a pregnancy to term.
In the case of fertility treatments, this test will help ensure that the baby does not carry the genetic disorder or does not develop it as a disease in the future, as only embryos without these mutations in their chromosomes will be transferred. In IVF-Life, as a fertility clinic specialised in complex cases, we understand the importance of detecting recessive and dominant genetic diseases before undergoing any fertility treatment.
That is why our laboratories are equipped with state-of-the-art technology to perform these tests. This allows for an accurate diagnosis for personalized fertility treatment, ensuring the success of pregnancy for our patients. As a result, our pregnancy rates exceed the European average.
When both partners in a couple are carriers of pathogenic variants in the same gene associated with an autosomal recessive condition, there is a 25% risk in each pregnancy that their child will develop the condition. However, being carriers does not mean that they will necessarily pass the condition on to their children. Genetic counselling helps couples understand their reproductive risk and explore the different options available to them when planning a family.
One option is to undergo in vitro fertilisation (IVF) with preimplantation genetic testing for monogenic conditions (PGT-M), which allows embryos to be tested to identify those that do not have the genetic condition being investigated before they are transferred. Other options may also be considered, such as prenatal genetic diagnosis during pregnancy or the use of donor gametes. The choice will depend on the characteristics of the condition, the genetic test results and each couple’s preferences, always with guidance from specialists in genetics and assisted reproduction.
If you want to learn more about our team, you can contact us through your nearest fertility clinic in Alicante, Madrid, or Donostia.
Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T.
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
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Documento de recomendaciones del American College of Medical Genetics and Genomics (ACMG) sobre el cribado de enfermedades autosómicas recesivas y ligadas al cromosoma X antes del embarazo y durante la gestación:
https://pubmed.ncbi.nlm.nih.gov/34285390/
Sagaser KG, Malinowski J, Westerfield L, Proffitt J, Hicks MA, Toler TL.
Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors.
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Guía basada en la evidencia que evalúa el cribado genético ampliado de portadores para identificar el riesgo reproductivo de enfermedades autosómicas recesivas y ligadas al cromosoma X:
https://pubmed.ncbi.nlm.nih.gov/36756860/
Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F.
Responsible implementation of expanded carrier screening.
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Documento de recomendaciones de la Sociedad Europea de Genética Humana sobre la implementación responsable del cribado genético ampliado:
https://pubmed.ncbi.nlm.nih.gov/26980105/
Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Keppler KE.
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Estudio que evalúa el uso de la secuenciación de nueva generación para detectar variantes asociadas a enfermedades recesivas graves de aparición infantil:
https://pubmed.ncbi.nlm.nih.gov/21228398/
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