June 2024

During this month we wanted to draw attention to the importance of Carrier Screening Test.

Prenatal investigations (NIPT, amniocentesis, villocentesis) and neonatal screening (NES) are now part of our clinical practice and are very useful tools for assessing the health of the foetus, but they are late in the reproductive pathway. However, there are several prevention options, including carrier screening tests, which can identify the risk of transmitting genetic diseases to the offspring.

On June 11, we organised an online webinar dedicated to this topic. Below a concept map with the key points of Dr Laura Gigante's speech.

GENESCREEN

Genescreen is the Eurofins Genoma's carrier screening test, that have been redesigned based on the latest recommendations and guidelines from leading human genetics and reproduction societies.

Is a test for evaluating your genetic status that determines the potential carrier condition for any disease included in the panel. Increasingly recommended by the scientific community, carrier screening tests, when performed on both partners, allow couples to identify the most appropriate reproductive pathway and reduce the risks of transmitting severe genetic conditions to their children.

For whom is the test indicated?

• Couples planning a pregnancy
• Consanguineous pregnancies
• Couples with family or medical history
• Donors during assisted reproduction
• Anyone who wants to investigate their status as a healthy carrier of genetic diseases

When to perform the test:

• During reproductive age
• During pregnancy

LEVELS OF INVESTIGATION

Each panel of our Genescreen was designed according to the needs of each category that would benefit from it.

Consult the complete list of analysed genes at the following link:

List of genes

CARRIER TEST CUSTOMIZABLE ACCORDING TO SPECIFIC NEEDS

• Matching

The option to compare screening test results between the two partners (or donor and recipient), assessing the risk of inheriting diseases in the future child.

The ability to compare screening test results between an internally analyzed sample and an external sample report.

• Extension

In case the carrier test performed by the partner/donor is not the same as one's own test, it is possible to request an extension of the test to a more comprehensive panel.

It can be requested: from one level to the next or for a single gene.

• Customization

Flexibility to personalize the panel based on patient/couple needs.