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Pregnant with life-saving ideas

Professor Rossa Chiu, of the department of chemical pathology at the Chinese University of Hong Kong (CUHK), has recently received two prestigious international research awards in recognition of her development of a non-invasive prenatal diagnosis for Down's syndrome.

The International Federation of Clinical Chemistry and Laboratory Medicine Young Investigator Award came first, followed by the Professors' Prize from the Association of Academic Heads of Clinical Biochemistry Departments in Britain. Chiu says she could not believe she won the same Professors' Prize that her supervisor, Professor Lo Tuk-ming, received back in 2000.

'This is one of the happiest moments of my life. These awards are confidence boosters for me. They prove that researchers from Hong Kong are recognised internationally,' she says.

Chiu graduated from Australia's University of Queensland in 1997 with first class honours for two bachelor's degrees - one in medicine and another in surgery. She joined CUHK's department of chemical pathology in 1999.

'Joining the department and getting supervision from Professor Lo marked the beginning of my research career. My research would not have been possible if [he] had not discovered in 1997 that during pregnancy, the fetus releases its DNA into the mother's plasma,' she says.

Chiu's non-invasive prenatal diagnosis involves examining the mother's plasma to look for signs of mutation that may lead to Down's syndrome. This method hugely reduces the number of pregnant women who have to undergo invasive procedures such as amniocentesis - or amniotic fluid test - that may lead to miscarriage.

Down's syndrome is a genetic condition in which a person inherits an extra copy of one chromosome, resulting in certain physical features such as a flat facial profile, a flat back of the head and protruding tongue. Nearly half the people with the syndrome have heart defects, gut problems, and thyroid gland disorders.

Before the introduction of Chiu's non-invasive diagnosis, pregnant women had to undergo an ultrasound and blood test so that doctors can look for a protein linked to Down's syndrome. They submitted to an invasive prenatal diagnosis if they were classified as 'high risk' after the initial screening.

Chiu says she chose to do research on the diagnosis for Down's syndrome because it is quite common, with one out of 800 babies having it. In the future, she hopes to develop a non-invasive procedure for other diseases.

Chiu says that without Lo's guidance, her research would not have been successful. '[He] taught me not only the right way to do research but, more importantly, the correct attitude towards research,' she says. 'The correct attitude is not to mind if you have not achieved any results, and to never produce wrong results because your mistake will mislead the public and other researchers. Research is a prolonged battle. There is no short cut. Have faith in what you are doing and never give up,' she says.

As a mother of five-year-old twins, Chiu says it is not easy to balance work and family.

'I have a passion for research but I have an even greater passion for my kids. When I am with my children, I devote 100 per cent to being a mother. And when I am at work, I give 100 per cent to my research. The toughest time is when I have to travel overseas to attend conferences. Luckily, my family is extremely supportive and willing to help me take care of them while I am away.'

Chiu's prenatal diagnosis for Down's syndrome will be available in local hospitals by end-2012. At the moment, Chiu and her team are training medical staff to carry out the procedure.

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