Newborn Genetics

The importance of early detection

Approximately 3-4% of newborns will have a genetic disease.

Some genes are responsible for inherited genetic disorders that result, for example, in metabolic and developmental diseases that cause serious health problems from an early age.

Its early detection is key to act in time and improve the patient’s quality of life:
-Enabling to avoid the appearance of symptoms such as physical and intellectual disabilities.
-Helping to improve the natural evolution of the disease.

Differences from the usual heel test

Newborn screening (heel prick) is a mandatory public health program to check for certain disorders that may appear at birth.
Newborn Screening is indicated for all newborns. It is performed on healthy infants during the first days of life.

The big difference between the two tests is that screening covers 8-40 diseases, while this new test analyzes 237 genes associated with more than 200 genetic diseases that can be treated early in life.

All the information you can provide us with

8 out of 10 children with genetic disorders are born without a family history. This occurs because many of these diseases are transmitted in an autosomal recessive inheritance pattern.
Genes are responsible for giving instructions to the organism and all of us have two copies of each gene. In these cases, when one of these copies suffers an alteration, the other continues to function normally. We then speak of an individual as a healthy carrier.

When two carriers with the same alteration have a baby, the baby has a 25% chance of being affected, a 50% chance of being a carrier or a 25% chance of being free of this alteration.
Thanks to Newborn Screening, it is possible to detect if your baby has inherited two altered copies of the same gene, which could imply the development of diseases and thus be able to anticipate treatment, improving their quality of life.

A very simple test

We put all the facilities at your fingertips, so that you are totally relaxed and it is very comfortable for both parents and baby.

• Call us to make an appointment with our nursing team. We can do it in the morning or afternoon every day of the week.
• The sample is taken from the baby’s heel, just like the hospital test (although it can also be done on saliva sample, it is advisable to try with blood).
• We will send you the sample and inform you of the result.
• A very easy test, with no discomfort for the baby and with a visit of only 10 minutes.

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