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Every year, hundreds of babies are born in Belgium with rare genetic diseases. Early intervention can improve the health and quality of life of a number of these babies - those with treatable conditions. But these diseases can be difficult to diagnose, leading to delays in care and sometimes irreversible damage.
Baby Detect is an innovative screening test that analyses a set of genes to identify mutations leading to serious but treatable disease. This list of genes has been compiled with input from specialists in all areas of paediatrics.
If you decide to do the test, your baby will be tested for more than 165 rare genetic diseases. It is rare but possible for us to identify a disease at an early stage. We will let you know the result as soon as possible. Your baby could then benefit from early treatment, which could help to reduce his symptoms or prevent him from becoming ill in the first place.
There are mutations for which we do not currently know whether or not they cause disease. These mutations are not reported. It is therefore possible that - even if the test does not find a mutation - your child could still be affected by one of these diseases. Conversely, there are rare situations in which we may need to contact you again to check a result - even if your child does not have the disease. The test should therefore be understood as a screening test, not a diagnostic test.
Baby Detect is an innovative test that expands newborn screening with more than 165 rare, serious and treatable diseases that occur in early childhood. This allows doctors to treat these diseases early, often before any symptoms appear.
Every baby born in Belgium and in most countries is offered, free of charge, the heel-prick (Guthrie) test as part of the official newborn screening program. A few drops of blood are collected from the baby to look for 20 serious diseases. With BabyDetect, we collect a few more drops of blood from the baby to screen for more than 165 additional diseases.
The test only looks at early-onset (before 5 years), serious and treatable genetic diseases. The test will not pick up any disease that is not treatable, or mutations that are known to cause disease only later in life. A list of diseases the test screens for is available on this website.
The test costs 650 EUR and will be charged to the parents directly by the CHU of Liège where the analysis of the blood will be performed. At this point, the test is not reimbursed in Belgium. However, we encourage you to contact your mutuality and your insurance company as they may offer partial coverage depending on your insurance policy.
This test will not cause any harm or any additional discomfort to your baby. During the normal official screening (heel-prick test), the midwife or nurse will take a few extra drops of blood to be used for the test of BabyDetect.
The test is very accurate and has a high level of confidence, but it is not 100% perfect. The test only looks at genetic mutations that are known at this point in time. It could happen that an unknown mutation goes undetected and yet causes the disease (false negative case). We do everything we can to minimize this risk and the worldwide databases of genetic mutations are constantly updated. If an anomaly is detected (positive case), a specialist will determine if further testing is required to be certain of a diagnosis.
If the test is negative, none of the diseases we screen for has been detected. You will be informed as well as your physician as soon as the results are available which is usually after 8 to 12 weeks.
If an anomaly is detected, you will be contacted by a paediatrician as soon as possible. This doctor will be a specialist in the disease that may have been picked up. The paediatrician will then further investigate the diagnosis, and if necessary, propose the best possible treatment plan.