What is the purpose of genetic testing of a newborn baby?

Since non-invasive prenatal tests (Trisomy 21 and Harmony) became available on the platform, we have been asked both in the video consultation for the delivery of results and in genetic counselling which test was the most suitable for newborns. With the rise of non-invasive prenatal testing and the increasing training of the platform’s users, the questions have become almost a requirement: “after knowing whether or not our baby will have Down syndrome (or any other trisomy), we want to know online, once our child is born, if he or she may have any genetically based disease, in order to take the appropriate measures that science allows us to take”.


This logic seems to us to be unquestionable and from the beginning of the year a genetic analysis can be carried out on the newborn, with the same procedure that is followed with the rest of the analyses.


And what information does this genetic analysis provide?

This analysis makes it possible to accurately detect more than 390 diseases that can affect the newborn in the first stages of life. Each disease has a different treatment and it will be the doctors who will indicate the steps to follow, but in all cases, early detection helps the treatment to be more effective. There are cases, and we all know of some that are more or less close to us, in which doctors have taken a long time to diagnose a baby’s illness and tests, and a simple genetic analysis would have brought forward time and uncomfortable tests for the newborn, improving the efficiency of the treatment.


Among some of the diseases it detects are the following:


Familial hypercholesterolemia.

Neonatal diabetes mellitus.

Usher syndrome.

X-linked immunodeficiency.

Malignant hyperthermia.

Cystic fibrosis.


Neonatal genetic analysis increases the range of results provided by the famous heel prick test that all parents are familiar with.


For further information or to purchase the service directly, please visit the following website.


If you have any questions, you can contact us by phone on +34 911 284 591.


Carlos Martín, CTO of medmesafe

Project manager of the architecture service in SEPE Central Services - Procesia WEB and API architecture service coordinator - INECO Former CTO - medmesafe