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Prenatal testing: lifting the lid on 22q deletion syndrome

A recent BBC article has shone a spotlight on the “massively misdiagnosed” 22q deletion syndrome. This genetic condition can cause a range of mild to severe behavioural, psychological and physical symptoms, but often flies under the radar in babies and children.

Due to 22q deletion being a little-known genetic condition, many parents and even doctors don’t realise that a child has the condition until some time after birth. This means that the families of children affected by 22q aren’t getting the medical help and support they need.

recent study by Cardiff University has found that the condition impacts at least one in 2,000 UK babies per year. As a deletion syndrome, it involves a missing section of chromosomal DNA, causing a complex array of 180 possible symptoms, such as congenital heart defects, a cleft palate and slow overall development. With so many symptoms of 22q, it’s no wonder that this genetic condition can be misunderstood by parents and medical professionals.

Included in Cardiff University’s ongoing development study is three-year-old Eloise Lee. She was diagnosed with 22q deletion syndrome at 11 months of age. Since birth, her mother noticed that Eloise was slow to reach development milestones, didn’t feed properly and was a very quiet baby.

Professor Marianne van den Bree, leading researcher of the Cardiff assessment, has been monitoring Eloise’s progress through play. She commented:

Some parents who took part in the study told us that schools don’t understand that the children have a genetic condition and they think that the child is just naughty. Other parents told us that when their child was behaving in a certain way, sometimes the parents are blamed for not being good parents.

Despite 22q now being considered as one of the most common genetic conditions, there is still much to be learnt about what this means for those affected. Our research is expanding knowledge on the mental health aspects associated with the syndrome, to help identify how children and adults can be best supported during their lives. It is clear from our research so far that there is still a lack of awareness – among the medical community as well as the public. Our work is part of a drive to change that.

In some cases, a lack of proper diagnosis has led to fatal consequences. Julie Wootton’s son, Max, died of complications from 22q syndrome. She has since set up The Max Appeal Charity, to raise awareness and fund research into the condition.

One suggestion from Julie is to include 22q as part of standard newborn screening tests, which screen for a number of life-affecting conditions after birth. Although the UK national screening committee is still considering this change, it is in fact already possible to screen your baby’s DNA for 22q microdeletion before birth, with the Vision non-invasive prenatal test from Future Health Biobank.

If you would like more information on how our Vision non-invasive prenatal test screens for 22q microdeletion syndrome, contact us on 0115 967 7707 or email info@fhbb.com.

Reference: 

www.bbc.co.uk/