Page 210 - Hospital Authority Convention 2017

Service Enhancement Presentations
HOSPITAL AUTHORITY CONVENTION 2017

F5.2 Healthcare Advances, Research and Innovations 09:00 Room 421

The Pilot Study of Newborn Screening for Inborn Errors of Metabolism: a Joint Programme of the Department of
Health and Hospital Authority
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Hau WL , Mak CM , But WM , Leung KY , Poon WK , Hui PW , Tsang SL , Ma GY , Leung CM , Tong AYH , Wong KF , Hui
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JCN , Yau KC , Tso KP , Yeung SWC , Lo IFM , Cheung TF , Lam RKY 7
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1 Department of Health, The Government of the Hong Kong Special Administrative Region, Department of Pathology, Princess
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Margaret Hospital, Department of Paediatrics, Queen Elizabeth Hospital, Department of Obstetrics and Gynaecology, Queen
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Elizabeth Hospital, Department of Paediatrics, Queen Mary Hospital, Department of Obstetrics and Gynaecology, Queen Mary
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Hospital, Quality and Safety Division, Hospital Authority Head Office, Information Technology Services, Hospital Authority
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Head Office, Department of Pathology, Queen Elizabeth Hospital, 10 Department of Paediatrics, Prince of Wales Hospital,
11 Department of Paediatrics, Princess Margaret Hospital, Hong Kong
Introduction
After release of the Policy Address 2015, the Workgroup on Expansion of Neonatal Screening Programme in Hong Kong set
up a Task Force to plan and prepare for the implementation of the pilot study entitled “Pilot Study of Newborn Screening for
Inborn Errors of Metabolism”.
Objective
To evaluate the operation and effectiveness of newborn screening in identifying and managing babies with inborn errors of
metabolism (IEM) during the first phase of the pilot study.
Methodology
The pilot study was launched on 1 October 2015 in two Hospital Authority hospitals (Queen Elizabeth Hospital and Queen
Mary Hospital) for 18 months in two phases – phase I from 1 October 2015 to 31 March 2016 (covering 21 IEM diseases) and
phase II from 1 April 2016 to 31 March 2017 (covering 24 IEM diseases). Education was provided during antenatal care to
expectant parents with a goal to adequately inform them before they signed the consent form. Evaluation of the pilot study
was based on data collected for the first six months of the study and focused on the logistics of the programme, parental
education, workflow, timely arrangement of further workup for screen-positive babies and management of babies with
confirmed diagnosis.
Results
The pilot study had been operated smoothly and met the modified standards from the United Kingdom Newborn Screening
Programme Centre. Over 4,700 babies participated in the first phase of the pilot study. Participation rate was up to 99%. Ten
10 babies were called back for assessment because of positive results. Among them, two babies were confirmed with IEM
including one with carnitine uptake deficiency and one with mild phenylketonuria. One baby was carrier of very long-chain
acyl-CoA dehydrogenase deficiency and a mother with carnitine uptake deficiency was diagnosed as her baby had low free
carnitine level. Incidence of IEM was about one 1 in 2,350. There was no false negative in phase I one. All babies with IEM
were managed and remained asymptomatic.
Wednesday, 17 May
The pilot study was found to be effective in terms of both the operation and clinical management of babies with IEM.

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