FAQS

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.

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, with seminal alterations such as oligospermia, asthenospermia, etc., many couples are able to start a family through fertility and assisted reproduction treatments such as in vitro fertilization (IVF), artificial insemination, or the ICSI technique (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 medications in the days leading up to the test, and to always inform the physician about any medication being taken or any recent illness.
• On the day of the semen analysis, proper hygiene of the genital area and hands should be performed, 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 only a risk for the baby if both partners are carriers of 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 are carriers of the same mutation, there is a significant risk that their children may be born with 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 recessive genetic mutations, and many people are carriers without showing any symptoms or developing the disease, because only one of their two gene copies is altered while the healthy copy continues to function.

The problem only arises if both partners are carriers of the same mutation, as there is then a risk that the child will inherit both altered copies 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.

Die Endometriumbiopsie wird meist ohne Narkose durchgeführt und kann kurzzeitig ziehende Schmerzen verursachen, ähnlich wie Menstruationskrämpfe. Die Intensität variiert individuell und klingt in der Regel rasch ab.

PGT can help select embryos without genetic abnormalities, but it does not increase IVF success rates in all cases nor does it guarantee pregnancy.