FAQS

These diseases, also known as Mendelian inherited diseases, can be of three types: 

• An autosomal recessive disease occurs when a person inherits two copies of a mutated gene, one from each parent. In this case, the parents may each carry one copy of the mutated gene without having the disease themselves. 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 altered gene is needed for a person to develop an autosomal dominant disease. The probability of a child inheriting the disease from an affected parent is 50%. Examples of autosomal dominant diseases are Huntington's disease and Steinert's myotonic dystrophy. 
• X-linked diseases occur when the mutated gene is located on the X chromosome and can be inherited in either a dominant or recessive pattern. Examples include haemophilia A and fragile X syndrome.

No, an abnormal result in a semen analysis does not mean that having children is impossible. In most cases, it indicates that achieving a natural pregnancy may be more difficult.

In fact, in cases of semen abnormalities such as oligospermia or asthenospermia, many couples are able to start a family through fertility and assisted reproduction treatments such as in vitro fertilisation (IVF), artificial insemination or ICSI (intracytoplasmic sperm injection).

Yes, lifestyle and diet do influence the results of this test. Factors such as smoking, alcohol consumption, drug use, lack of exercise, and stress are associated with poorer sperm motility, concentration and morphology. Adopting a healthy lifestyle is recommended to promote better semen quality. 

• Sexual abstinence should be maintained for 2 to 5 days before the test, avoiding both sexual intercourse and masturbation.
• It is recommended to avoid tobacco, alcohol, recreational drugs and certain medicines in the days leading up to the test, and to inform the doctor about any medication being taken or any recent illness.
• On the day of the semen analysis, the genital area and hands should be thoroughly cleaned, and the semen sample should be collected by masturbation directly into a sterile container, taking care not to lose any part of the ejaculate.

Because most of these diseases are autosomal recessive, meaning that there is an increased risk for the baby if both partners carry disease-causing variants in the same gene.

The aim of the test is to identify whether both partners carry mutations in the same genes that cause recessive hereditary diseases. If both partners carry disease-causing variants in the same gene, there may be an increased risk of their children being affected by a serious genetic disease. This risk can only be assessed when both partners are tested and their results are compared.

Being a carrier does not mean that you will develop the disease. The test looks for genetic variants associated with recessive diseases. Many people are carriers without showing symptoms or developing the disease because only one of their two copies of the gene is affected, while the other continues to function.

The risk arises when both partners carry disease-causing variants in the same gene, as their child could inherit an altered copy from each parent and develop the disease.

Before starting a natural pregnancy or a fertility treatment, as performing the test in advance allows you to identify whether you or your partner are carriers of recessive genetic mutations that could affect your offspring.

An endometrial biopsy is usually performed without anaesthesia and may cause brief discomfort or pain similar to menstrual cramps. The intensity varies from person to person and the discomfort usually subsides quickly.

PGT can help select embryos without the genetic abnormalities being tested for, but it does not increase IVF success rates in all cases or guarantee pregnancy.