With its expertise, advanced equipment and children-centred facilities, HKCH has been supporting the government and HA to implement different healthcare strategies and initiatives to benefit those in need across the territory.

Newborn screening for inborn errors of metabolism

Prevention of inborn errors of metabolism (IEM) is an important public health measure as they may cause intellectual disability and organ failure. The IEM newborn screening programme covers all babies born in public hospitals. Participants' blood specimens are sent to HKCH where 26 IEM conditions are screened using tandem mass spectrometry. The Metabolic Medicine team will then follow up abnormal cases for early diagnosis and treatment, hopefully before symptoms arise. With proper medications and dietary therapy, most of them can be well managed and can grow healthily.

Non-invasive prenatal testing

HA's non-invasive prenatal testing (NIPT) service detects foetuses with Down syndrome, Edwards syndrome and Patau syndrome. For pregnant women whose fetus is considered high risk in the first-tier screening performed by public obstetric units, their blood samples are sent to HKCH for further screening.

HKCH will test the foetal DNA in the maternal plasma. NIPT is 99% accurate. It also prevents risk of miscarriage due to invasive examinations such as chorionic villus sampling and amniocentesis.

▲In NIPT, plasma is extracted from blood samples of pregnant women and analyzed with this next-generation sequencer. It can tell the risk of fetuses having chromosomal disorders like Down syndrome.

Screening for severe combined immune deficiency

Severe combined immune deficiency (SCID) is a group of rare genetic disorders which impair one's immune system against bacteria, viruses and fungi, leading to recurrent, life-threatening infections. Symptoms generally develop in a few months after birth, making early identification difficult.

Pilot newborn screening for SCID was launched in HKCH in Oct 2021 for all babies born in public hospitals. The Immunology team will follow-up confirmed cases, including arranging protective isolation and haematopoietic stem cell transplantation.

▲Babies' blood samples are collected with a blood spot card.

▲Using quantitative end-point polymerase chain reaction and fluormeter to measure the level of T-cell receptor excision circles for SCID screening.

Hong Kong Genome Project

Many people in Hong Kong suffer from hereditary diseases, including undiagnosed conditions and cancers. The Food and Health Bureau has rolled out the Hong Kong Genome Project to look for disease-causing genetic variants through whole genome sequencing, in order to provide more precise diagnosis and effective treatment for these patients and families.

As one of the project's partnering centres, HKCH is responsible for recruiting eligible patients and family members. Besides collecting their specimens and sending to the Hong Kong Genome Institute for sequencing and analysis, a team comprising of doctors, nurses, genetic counsellors, bioinformaticians and medical technologists also offers pre- and post-test counselling and clinical referral.

11-year-old Hin and his parents were referred to HKCH for the project. For years, he has experienced seizures with unknown cause. He requires long-term medications for symptom control, and the last episode even brought him to the ICU. His mother said, "His seizures are like time bombs. They come without warning. Even a common cold would stress me out. We always wonder why as we don't have any family history, but no one can give us an answer. I feel lucky to be able to join this project, because there is hope to finally find out the cause and right treatment."

▲Hin and his parents having genetic counselling and blood-taking for genome sequencing, hoping to get a diagnosis.

Hepatitis B post-vaccination serologic testing

To reduce mother-to-child-transmission of hepatitis B, the Department of Health started to offer serologic testing for babies born to hepatitis B-infected mothers from this January. Babies found to have inadequate antibodies will be given an additional three-dose hepatitis B vaccines, while infected babies will be referred for specialist management.

Babies who are referred by the Maternal and Child Health Centres will come to the HKCH specialist outpatient clinic for blood taking. Their specimens are then sent to the Public Health Laboratory Services Branch for testing. It is estimated that 3,000 babies will be covered each year.

Special Oral Care Service

The Department of Health collaborates with HA to set up the Special Care Oral Service at HKCH for children under six with intellectual disability. Oral examination, filling and extraction procedures are provided at the specialist outpatient clinic. Dental treatment under sedation or general anaesthesia can also be performed at the operating theatre.

Yuen is one of the patients referred to this programme. He had over ten decayed teeth and dentists treated them with fillings, dental crowns and fluoride varnish under general anaesthesia. His mum said it had been difficult to find suitable and affordable dental service, "The healthcare staff here are very patient and friendly. My son doesn't feel scared now and is willing to cooperate in examination. He is free from toothache and eats more."

▲Yuen undergoing oral examination with his mother by his side.