Congenital disorders

Congenital disorders are conditions or diseases that you are born with. Some are hereditary, others are not.

What are symptoms?

The newborn baby usually appears perfectly healthy at birth. Symptoms sometimes occur quite soon after birth, sometimes only much later.

After a while it becomes increasingly clear that something is seriously wrong. Characteristic of congenital disorders is that damage becomes more severe as time passes.

What actually goes wrong depends on the disease. This often concerns brain injuries, serious disabilities, chronic diseases, and sometimes also sudden death.

What can you do?

If these conditions are diagnosed early enough , they can usually be treated easily and effectively . In this way, damage to health can be prevented or the disease process can be slowed down.

Early detection and treatment ensure an increased quality of life and a better prognosis of the disease.

Population survey

To detect sixteen diseases at an early stage, the Flemish government organizes the Population Survey for Congenital Disorders.

    A blood sample is required for detection. With a prick in the back of the baby's hand, a few drops of blood are collected on a blood card. This examination used to be called the 'heel prick', but a prick in the heel is more painful.

    Your baby will receive this injection on the fourth day , between 72 and 96 hours after birth. For a correct analysis of the blood card, it is very important that this blood sample is taken at the correct time.

    During a home birth, outpatient delivery or a short maternity stay, the midwife takes a blood sample at home. So don't forget to make an appointment with a midwife if you give birth at home or leave the maternity before the fourth day.

    If the screening test is not abnormal , you will not be informed . If you don't hear anything within three weeks after the injection, everything is fine.

    In the event of an abnormal result, your doctor will be notified by telephone and in writing. They are aware of the great importance of an abnormal result and will inform you about this. Your doctor will discuss the next steps with you.

    If the result is abnormal, a second blood test is required. This is usually performed three weeks after the first. If the result of the second test is also abnormal, you will be referred to a specialized center or a specialized doctor. The center or doctor will further elaborate the diagnosis and propose treatment.

    Participation in the population survey is not mandatory. We strongly recommend it: the sooner these rare diseases are discovered, the better the treatment will be.

    The midwife or doctor will inform you about the procedure and the pros and cons of this population screening. She will ask your permission and note this on the back of the blood card.

    If you refuse to participate, you must confirm this in writing by signing a refusal form.

    The blood card analysis is free for all babies born in Flanders. If further research is needed, reimbursement is available through health insurance.

    This screening test does not make a diagnosis. If the result is abnormal, further research is required. In the meantime, you have to wait and you may be very worried. It is also possible that diseases are missed by this screening. In that case you are falsely reassured. If your baby develops symptoms, further testing will still be necessary, even if the screening result was normal.

    Elise Rummens

    Elise is onze huisdokter. Haar stokpaardje op het vlak van gezondheid is beweging. Daarom zie je haar op dinsdagavond springen, vliegen, duiken, vallen en weer opstaan. Dan heeft ze haar wekelijkse parkourtraining.

    Preventie-arts CM

    Source

    Website congenital disorders