ABU DHABI // Khalifa University researchers are developing a test for Down syndrome in newborns, using 3-D facial images and genetic data.
Designed to help mothers who have not had tests for the condition during pregnancy, it involves analysing the shape and texture of the face to look for indicators of Down syndrome, which are sometimes not apparent for up to six months after birth.
It also explores possible associations between genetic disorders and particular facial features in infants.
The research team has been given approval to work with babies at Mafraq Hospital. Two-thirds of the infants have Down syndrome, allowing the researchers to search for features that can be used in a database.
“Ideally it would be a test given after birth, which gives enough time to parents and physicians to take action,” said Dr Naoufel Werghi, one of the researchers.
“We know it’s common among consanguineous families so there’s a high risk and it’s advised for those at risk to do such a test.”
The team is working with the Sheikh Zayed Institute for Paediatric Surgical Innovation in Washington DC, the Sheikh Zayed Institute, Mafraq Hospital and the UAE Down Syndrome Association.
Down syndrome is more common in the Middle East than other regions.
It is present in one in every 1,000 births in the UK, and one in 800 births in the US, but figures from the Centre for Arab Genomic Studies show one in 319 babies in the region has Down syndrome.
It is hoped that the new technique will enable doctors to detect common complications such as heart defects, diabetes and thyroid problems much earlier, allowing for more effective treatment.
Down syndrome checks are normally conducted between the 11th and 14th weeks of pregnancy.
A blood sample is checked and an ultrasound scan carried out to measure the thickness of the nuchal transparency – a pocket of fluid at the back of the baby’s neck.
Analysed with other information, such as the mother’s age, the result predicts the likelihood of the baby having Down syndrome.
If the mother is classified as high risk – one chance in 150 or greater – she is offered an invasive diagnostic test.
With amniocentesis or chorionic villus sampling (CVS), a needle is inserted through her abdomen and into the womb, and a sample is taken from the placenta or placental fluid.
These tests are conclusive and can also detect other chromosomal abnormalities, but come with a risk. About one in every 200 amniocentesis procedures causes miscarriage, and one in every 100 CVS tests.
Sonia Al Hashimi, chairwoman of the Down Syndrome Association, said that in most cases hospitals conducted proper diagnoses, but in rare cases some parents did not know that their child had Down syndrome until after the birth.
“With such rare cases, these parents go through a traumatic time because not only do they discover the news late, but also the way the news is conveyed is not appropriate,” Ms Al Hashimi said.
Dr Mohammed Al Mualla, senior vice president of research and graduate studies at Khalifa University, said Down syndrome was a growing problem in the UAE.
“Our researchers are taking the lead in helping to detect and ultimately treat this debilitating condition more effectively,” Dr Al Mualla said.
“The research also has the potential to be used to diagnose other congenital illnesses in the same way, improving the quality of care that these patients receive.”
mswan@thenational.ae
