12 de August, 2023

Genetic alterations: What are they and how do they affect fertility?

Genetic alterations in embryos, which trigger diseases and medical conditions that can compromise the quality of life of the future baby, can be caused by problems in the genes as well as in the chromosomes of the embryo and affect its ability to develop and implant in the uterus.

How do genetic alterations occur in embryos?

When trying to conceive a baby, while the egg is fertilized by the sperm, 23 chromosomes from the mother and 23 chromosomes from the father come together to add up to the 46 chromosomes that make up each cell of the embryo.

In turn, chromosomes are made up of a certain number of genes, which are arranged in pairs, so that one gene comes from the father and the other from the mother.

Who should consider a diagnosis of genetic alterations?

Genetic and chromosomal alterations usually present in:

  • Women over 35 who want to have a baby.
  • People with a family history of genetic alterations: who have had a child with a genetic disorder, with a clinical history of recurrent miscarriages or with implantation failure after several cycles of In Vitro Fertilization (IVF).
  • Men with an extremely low sperm count (less than one million sperm).
  • Men with Azoospermia or absence of sperm in their ejaculate.

What are the causes of genetic alterations in embryos?


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Genetic alterations can be caused by problems in both the genes and the chromosomes of the embryo, and affect its ability to develop and implant in the mother's womb.

It is worth mentioning that chromosomal disorders can occur even when there is no family history, unlike disorders due to gene problems, which are hereditary.

In order to develop into a healthy embryo, both the egg and the sperm need to have the right number of chromosomes. Otherwise, they can cause chromosomally abnormal pregnancies and thus increase the risk that the baby will have conditions such as Down syndrome or Turner syndrome.

It is important to note that, from the age of 35, the quality of a woman's eggs decreases considerably and her chances of forming embryos with an unfavorable genetic load increase.

How are genetic alterations in embryos diagnosed?

Information about the medical history of patients will help the reproductive specialist to be better able to identify inheritance patterns and assess the risk of their children suffering from certain genetic alterations.

If you have a history of a genetic defect, you can go to a specialist doctor to perform a blood karyotype to determine if there is any genetic alteration.

However, the safest way to rule out genetic and chromosomal abnormalities in the embryo is through Preimplantation Genetic Diagnosis with microarrays.


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Preimplantation Genetic Diagnosis to detect alterations

Preimplantation Genetic Diagnosis (PGD), which is used in conjunction with In Vitro Fertilization (IVF), and is the recommended treatment in case of recurrent miscarriages because it allows only embryos free of genetic and chromosomal abnormalities to be transferred to the uterus and maximizes the chances of implantation, pregnancy and having a baby at home.

In case there are no viable embryos after an In Vitro Fertilization treatment with PGD, you can resort to egg donation or sperm donation, which increase the probability of success by up to 80%.

How can I have my baby?


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There are now highly effective solutions for people who are at increased risk of passing on genetic alterations to their children. PGD ​​is the treatment of choice to achieve this, as it allows only embryos free of genetic and chromosomal abnormalities to be transferred to the womb.

By transferring only healthy embryos, the chances of implantation, pregnancy and bringing home a baby are maximized.

At Ingenes we have fertility experts responsible for studying each stage in the development of the embryo. In addition to our own internationally certified Laboratory, through which our experts carry out an exhaustive follow-up of each of the embryos of our patients.

In case you have had recurrent miscarriages, implantation failures, or you consider that you could be at risk of suffering from a genetic alteration, we invite you to click on the following image to schedule an appointment so that you can go with our experts and feel much more safe to have your baby.

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