Neonatal screening

At the maternity ward

At the maternity ward, all newborns in the Grand Duchy of Luxembourg benefit from screening for 7 rare genetic diseases:

• Phenylketonuria,
• Congenital hypothyroidism,
• Congenital adrenal hyperplasia,
• MCAD deficiency,
• Mucoviscidosis (since 2018),
• Spinal muscular atrophy (SMA) (since 2024),
• Severe combined immunodeficiency (SCID) (since 2026).

This is a done via a blood test that detects whether your baby has one of these conditions. The screening, also called “newborn screening,” aims to detect these diseases early so that rapid and appropriate medical care can be provided if necessary.

Blood test

The blood test is performed from the 3rd day of your baby’s life. It involves taking a few drops of blood through a simple heel prick. These drops are collected on a filter paper card (commonly known as the “Guthrie test”) and analyzed at the National Health Laboratory (LNS).

To prevent discomfort, healthcare staff use various techniques.

Test results

The results are sent by the LNS to the doctor who ordered the screening, usually the pediatrician who examined the baby at the maternity ward or in the pediatric department.

In most cases, the test results are normal, meaning the child does not have any of these diseases.

If a result is abnormal, you will be informed directly by your pediatrician or by the LNS. In this case, additional tests will be carried out to confirm or rule out the initial analysis. This second check will determine whether your baby is affected or not.

If the result confirms the initial analysis, you will be informed immediately, and rapid care will be offered at the appropriate hospital.

Parental consent

The results of these screening tests can be crucial for your baby’s health and future. These tests are not mandatory but are strongly recommended.

The screening is free of charge and fully funded by the Ministry of Health and Social Security.

If you do not wish to have the screening done, you must sign a form to exclude your baby from this prevention program.