Chinese University screening tests to pick up genetic illness in newborns

Chinese University programme will screen babies for a range of disorders to prevent skin problems, mental defects - and even death

PUBLISHED : Wednesday, 19 June, 2013, 12:00am
UPDATED : Wednesday, 19 June, 2013, 5:25am

Hong Kong's first screening programme for a range of congenital genetic disorders in newborn babies that can cause a lack of body enzymes, leading to organ damage, has been launched by the Chinese University.

Doctors say early detection and treatment of the conditions, known as inborn metabolic disease, can prevent severe skin problems, mental defects and premature death.

It is estimated that the disorders affect one in 4,000 people but have often been mistaken for other diseases because each has different symptoms and doctors are unfamiliar with them.

"Without early diagnosis, these diseases may lead to death, learning disabilities or other problems. With early detection and treatment we can reverse these outcomes," Dr Joannie Hui, honorary paediatrics clinical professor at the university, said yesterday.

Before the screening programme, the diseases were identified only after symptoms appeared and in some cases samples had to be sent overseas for testing, she said.

One of her patients, Elton Leung Tsz-chun, developed skin problems when he was just a year old that made him look as though he had been burned. At two, his condition deteriorated and he was sent to intensive care because of excess acid in his blood. Tests on skin tissue samples sent to Europe found he had an inborn metabolic disease.

His condition improved after medication, and although he still has to take medicine, he leads a largely normal life.

In the screening test, a few drops of blood are taken from a baby one to seven days after birth, and tests results are available in four to five days.

The test screens for 30 of the more common and treatable conditions that usually appear in early infancy. The test will be available at the university's Centre of Inborn Errors of Metabolism at the Prince of Wales Hospital in Sha Tin from July or August.

The tests cost HK$800, upon which no profit is made, said obstetrics and gynaecology professor Leung Tak-yeung.

Initially only babies born in private hospitals will be able to have samples taken in hospital, although other patients can take their babies to the centre.

Arrangements for sample collection in public hospitals are still being discussed.

Yeung said the technology and skills needed for the test had always been available, but there was a lack of funding and co-operation between specialists to set up a screening programme.

The university received a HK$1 million donation from the Joshua Hellmann Foundation for Orphan Disease to start the programme.

It has no quota and several thousand babies are expected to be tested each year.

"Hopefully with this pilot programme, the screening tests will expand to all over Hong Kong in the future," foundation chairman Christina Hellmann said.