By Jennie Matthew
A CYPRIOT foetal expert, Professor Kypros Nicolaides, has made a potential breakthrough that could make the identification of babies at high-risk from Down’s Syndrome 97 per cent reliable.
Initial research conducted over a six-month period suggests that 75 per cent of embryos without a visible nasal bone at 12-weeks have Down’s Syndrome.
Nicolaides made the observation based on the ultrasounds of 700 babies at King’s College Hospital in London.
His findings will be published in The Lancetmedical journal in a few weeks’ time.
He then hopes to pioneer an international study based on 20,000 women from all over the world to prove his initial finding, before the examination makes its way onto the hospital ward.
The British Medical Journalconsiders the 12-week nuchal translucency test – developed by Nicolaides in 1992 – plus ultrasound, the most effective way of predicting whether unborn babies are at high-risk from Down’s Syndrome.
The current tests are 90 per cent accurate in determining whether a foetus is at high-risk from Down’s.
Foetuses grouped in this category are then subject to an amniocentesis for a definite diagnosis, a test that carries a very high risk of miscarriage.
Minimising the percentage of women that go for further tests would reduce the number of miscarriages, which kill healthy foetuses.
Ioannis Kallikas, gynaecologist at the Makarios Hospital in Nicosia and close associate of Nicolaides, said that, if proved right, the nasal examination would be incorporated with the current 12-week tests.
” If the nasal bone is incorporated with the current 12 weeks tests, then it could mean that doctors can predict downs 95 to 97 per cent successfully. So on a gross level, this observation improves that by another 10 per cent,”he said.
Nicolaides told the Cyprus Mailthat he made the breakthrough based on the simple observation that Down’s children have flat faces and small noses.
Research shows that normal foetuses tend to develop an identifiable nasal bone at 11 weeks. Given a delay in the ossification of the cartilage, Down’s babies don’t do so until 16 or 18 weeks.
Therefore, an ultrasound at 12 weeks can be a crucial determinant.
” I started on the nasal bones then it was incredible,”said Nicolaides.
His nuclear translucency scan was developed 10 years ago, after reading a description of Down’s babies written by a London doctor in 1860 – remarking that they have a short, thick neck.
Nicolaides was born in Paphos in 1953. He is director of the Harris Birthright Research Centre for Foetal Medicine at King’s College, where he heads a team of 30 doctors.
In 1999, he was conferred the Ian Donald Gold Medal from the International Society of Ultrasound in Obstetrics and Gynaecology.
