Which diseases is the blood tested for?
The blood from the heel prick is tested for:
- a disease of the thyroid gland (congenital hypothyroidism);
- a disease of the adrenal glands (adrenogenital syndrome);
- hereditary anaemia (sickle cell anaemia and thalassaemia);
- a disease of the lungs (cystic fibrosis);
- a number of metabolic diseases;
- severe combined immunodeficiency (SCID);
- spinal muscular atrophy (SMA) (from 1 June 2022).
Most of these diseases are inherited conditions and they are rare. If you want to know exactly which diseases are tested for, see the clinical picture.
The results of the heel prick
If the result is good you will get a letter from RIVM within five weeks.
If an abnormality is detected, your general practitioner (GP) will contact you about follow-up tests as soon as possible.
Sometimes there is not enough blood for the laboratory to be able do the test properly. The screener will have then have to repeat the heel prick test. If the results of this heel prick test are good, you will get a letter from RIVM within five weeks after the extra test. If an abnormality is detected, your GP will contact you as soon as possible.
Sometimes the result for one disease is not immediately clear. Then the screener will do the heel prick test again. The RIVM will contact you about this separately. The results of this extra heel prick test are known within two weeks. If no abnormalities are detected, you will get a letter about this from RIVM within two weeks. The other results of the heel prick test will be sent to you within five weeks after the extra heel prick test. If an abnormality is detected, your GP will contact you as soon as possible.
If you still haven’t received the result after five weeks, then contact the RIVM office in your region.
Abnormal result, and then what?
An abnormal result means that it is possible that your child has a disease. You will get this result from your GP. Your GP will refer your baby to a paediatrician (a doctor specialised in the care of children) as quickly as possible. The paediatrician will then further examine your baby to see what the matter is.
Carrier of sickle cell anaemia
The aim of the heel prick test is to trace diseases in children. However, the heel prick test can also show if your child is a carrier of sickle cell anaemia. Sickle cell anaemia is a form of inherited anaemia. Carriers of sickle cell anaemia are not ill.
If the heel prick test shows that your child is a carrier of sickle cell anaemia, then one or both parents are also carriers of this disease, or one of the parents has sickle cell anaemia. If a child is a carrier of sickle cell anaemia, it could mean that other children and family members are also carriers.
If you don’t want to receive any information about possible carriership of sickle cell anaemia by your child, then tell the person who does the heel prick test. This person will ask you to sign the heel prick card. Then if your child proves to be a carrier of sickle cell anaemia, you will not be told about this.
For more information see websites www.erfelijkheid.nl and www.pns.nl/hielprik/uitslag.