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Ambrose Li

More private hospitals in Hong Kong are expected to join the government’s free newborn screening programme for rare genetic conditions this year, according to health authorities.
The scheme tests newborns for inherited metabolic disorders, enabling early identification and treatment while easing the long-term burden on the public healthcare system.
The programme, launched in 2020, already covers all babies born in public hospitals.
Last year, the screening was extended to two private ones under a pilot scheme.
“We believe that in the first half of this year, other private hospitals will be able to successfully roll out the scheme,” Dr Michael Wong Lap-gate, the Hospital Authority’s director of quality and safety, said on Monday.
He stopped short of revealing how many hospitals the authority was in talks with. So far, the Hong Kong Sanatorium and Hospital and Gleneagles Hospital Hong Kong have joined the pilot scheme.
“Consider an infant with an inborn error of metabolism. If we fail to address it properly before symptoms manifest, and they develop lifelong lung impairment once the disease progresses, the cost of care becomes significantly higher,” Wong said.
The screening covers 30 inherited metabolic disorders, with about one in every 2,000 newborns expected to be diagnosed with one of these conditions, according to the authority. It also includes tests for spinal muscular atrophy, which affects one in 12,000 newborns, and severe combined immune deficiency, which occurs in about one in 26,000.
“Although these are rare diseases, they are all very serious. Most affected infants show no symptoms or signs in the early stages, and there may be no family history,” Dr Chloe Mak Miu, consultant pathologist at the Hong Kong Children’s Hospital, said.
“We therefore strongly encourage parents to utilise newborn screening for early detection and treatment, thereby avoiding severe complications or the risk of mortality.”
According to her, the screening is 99 per cent accurate.

Since being fully implemented in public hospitals in 2020, the programme has tested 100,000 newborns and identified 48 patients across the three covered conditions.
The screening is conducted by the Hong Kong Children’s Hospital, with Wong stressing there was sufficient capacity to handle cases from private hospitals, especially given Hong Kong’s declining birth rates.
To be eligible for the free screening, at least one parent of the newborn must be a Hong Kong resident. Babies born in private hospitals who require follow-up care may be transferred to the Hong Kong Children’s Hospital.
Dr Fung Cheuk-wing, consultant at the paediatrics and adolescent medicine department at the Hong Kong Children’s Hospital, gave an example of an inherited metabolic disease that could be treated through diet and medication.
He cited glutaric acidaemia type I, an enzyme deficiency that prevents the body from properly breaking down certain amino acids found in protein. This leads to a build-up of harmful substances in the body.
Fung described a past case in which a baby born healthy later developed the illness after an infection triggered its progression.
The condition caused permanent brain damage and intellectual disability, and the child suffered frequent spasms and required feeding via a tracheotomy. He eventually died in his teens due to complications.
He said doctors could manage such cases by “controlling protein intake” and providing a special formula milk that removed the amino acid that the child could not break down, adding that medication could also be used to remove accumulated toxins.
“It’s heartening that within our team, there are already several young children who, in fact, received this diagnosis shortly after birth. Following their treatment, they are now one to two years old and are in very good health,” he said.


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News

Hong Kong

Health & Environment

Screening covers tests for 30 inherited metabolic disorders, spinal muscular atrophy and severe combined immune deficiency


Screening covers tests for 30 inherited metabolic disorders, spinal muscular atrophy and severe combined immune deficiency.


China

Hospital Authority

Gleneagles Hong Kong

Hong Kong aims to enlist more private hospitals in free newborn screening scheme

.css-1c6uqr6{color:inherit;font-weight:inherit;font-size:inherit;font-family:inherit;line-height:inherit;overflow-wrap:break-word;}Screening covers tests for 30 inherited metabolic disorders, spinal muscular atrophy and severe combined immune deficiency

Screening covers tests for 30 inherited metabolic disorders, spinal muscular atrophy and severe combined immune deficiency