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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.

The Baby Detect study is an innovative research study 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.

Our study involves babies born at the Citadelle Hospital in Liège and will continue until August 2025. Parents being followed in another hospital can make an individual request via the Contact tab to take part. The results will add to the evidence base that will inform future decisions about the use of genetic newborn screening to support newborn screening. This includes using it to speed up diagnosis and access to treatment for rare diseases.

If you take part, 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.

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BabyDetect is a research project that expands newborn screening with more than 120 rare, serious and treatable diseases that occur in early childhood. This allows doctors to treat these diseases early, often before any symptoms appear.

Nearly every baby that is born in French-speaking Belgium, undergoes 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 120 additional diseases.

The BabyDetect test looks only for specific mutations in specific genes of the baby that are known to cause severe and early-onset disease. This test can then identify more than 165 genetic diseases before the first symptoms kicks in, and allows doctors to treat those diseases earlier.

As this is a research study, consent of the parents is required. Before taking part, it is important to read the agreement that you may sign, and discuss with your family members whether you would like your child to benefit from a more extensive screening.

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.

No, there is absolutely no requirement to partake in BabyDetect.

The test is entirely free of charge.

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 is not 100% perfect. The test only looks at genetic mutations that are strongly predictable of disease, and we do everything to minimize false positives. If screened positive, a specialist will further determine if further testing is required to be certain of a diagnosis.

If the test is negative, none of the diseases we screen for have been detected. In this case, “no news is good news”, and you will not be contacted.

If an anormalous result 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.

Parents' words

When Arthur was 3 weeks old, we received a phone call from the clinic where he was born to tell us about an abnormality in the Guthrie test. We went to the hospital the next day. We were both in shock. They examined him, they said he had no symptoms, but what we knew at that time was that it was fatal and that he had 2-3 years to live. We then met very quickly a doctor specialising in the disease. He was very reactive, he told us “we do not have a second to lose, we have to act now“. It was the professor’s responsiveness that made all the difference. We were very lucky… Everything was explained to us, it was a race against time… Arthur is followed up regularly to check his development and the possible side effects of the treatment.

Since the treatment, he is developing normally, like a baby of his age. We try to help him develop like a healthy child, without over-stimulating him. There are a lot of medical appointments, but apart from that, we live each moment to the full.

If Arthur had been born elsewhere, we would have had to wait for symptoms to be diagnosed. But with this disease, even if the child recovers a little with treatment, it is impossible to go back completely. But treating him beforehand, like Arthur, he can develop normally.

Screening has completely changed his life, he has hope of a normal life. Arthur is proof that it is possible to live a normal life with this disease, provided it is detected at birth.

Parents of Arthur
diagnosed at birth in February 2019

“The first month was perfectly fine, with no symptoms that could lead us to say there was a problem… The second month we had some questions, but it was at three months that we finally went to see a neuropediatrician to talk about hypotonia. We got the diagnosis two weeks later: spinal muscular atrophy, a disease we did not know about.

Even though Jules has had treatment and it works, we still live with a kind of guilt for not having been able to react earlier and realise in time that there was a problem. We have understood and we see that the treatment works very well if it is taken before the symptoms. We try to emphasise that screening at birth is something that should be put in place so children with this disease can have a normal life. Today we say that, if hadn’t been for those 3 months, Jules would live like a normal child and later like a normal adult. Because of 3 months, a whole life is turned upside down. With complications, for him, for us, for those around us…

When a child is born, we do not imagine it can disappear after a few months. It is not something you have in mind and screening at birth can help identify this type of serious illness and provide rapid treatment, and not leave families with this doubt that settles in as the weeks go by and the child develops differently from what you would expect, and finally this guilt that will remain for life.”

 

Parents of Jules
diagnosed with symptoms at 3 months in March 2018

They told me “Emma has spinal muscular atrophy”. Emma was just one month old. I thought “why, what have I done?” The world was falling apart. The sentence I said to the professor “Save my little girl“. And he answered me: “We will fight together“. That I will never forget. We started the treatment on 10 August 2018, and today, when Emma sits next to me on the sofa and falls down and then stands up again, I cry with joy, not with sadness.

“There is a medication, there is hope, we need to talk about it soon!”

Mum of Emma
diagnosed at birth in July 2018