دورية أكاديمية

The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong.

التفاصيل البيبلوغرافية
العنوان: The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong.
المؤلفون: Mak CM; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Law EC; Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.; Division of Clinical Biochemistry, Queen Mary Hospital, Pokfulam, Hong Kong., Lee HH; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Siu WK; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Chow KM; Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Au Yeung SK; Department of Obstetrics and Gynaecology, Tuen Mun Hospital, Tuen Mun, Hong Kong., Ngan HY; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Pokfulam, Hong Kong., Tse NK; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kwai Chung, Hong Kong., Kwong NS; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong., Chan GC; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong., Lee KW; Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Chan WP; Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Wong SF; Department of Obstetrics and Gynaecology, Tuen Mun Hospital, Tuen Mun, Hong Kong., Tang MH; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Pokfulam, Hong Kong., Kan AS; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Pokfulam, Hong Kong., Hui AP; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Pokfulam, Hong Kong., So PL; Department of Obstetrics and Gynaecology, Tuen Mun Hospital, Tuen Mun, Hong Kong., Shek CC; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kwai Chung, Hong Kong., Lee RS; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kwai Chung, Hong Kong., Wong KY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong., Yau EK; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kwai Chung, Hong Kong., Poon KH; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong., Siu S; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong., Poon GW; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong., Kwok AM; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong., Ng JW; Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Yim VC; Department of Obstetrics and Gynaecology, Tuen Mun Hospital, Tuen Mun, Hong Kong., Ma GG; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Pokfulam, Hong Kong., Chu CH; Department of Pathology, United Christian Hospital, Kwun Tong, Hong Kong., Tong TY; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Chong YK; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Chen SP; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Ching CK; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Chan AO; Division of Clinical Biochemistry, Queen Mary Hospital, Pokfulam, Hong Kong., Tam S; Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Lau RL; Department of Pathology, Yan Chai Hospital, Tsuen Wan, Hong Kong., Ng WF; Department of Pathology, Yan Chai Hospital, Tsuen Wan, Hong Kong., Lee KC; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Chan AY; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong., Lam CW; Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.
المصدر: Hong Kong medical journal = Xianggang yi xue za zhi [Hong Kong Med J] 2018 Jun; Vol. 24 (3), pp. 226-237. Date of Electronic Publication: 2018 Jun 04.
نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Hong Kong Academy of Medicine Press Country of Publication: China NLM ID: 9512509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1024-2708 (Print) Linking ISSN: 10242708 NLM ISO Abbreviation: Hong Kong Med J Subsets: MEDLINE
أسماء مطبوعة: Publication: Hong Kong : Hong Kong Academy of Medicine Press
Original Publication: Hong Kong : Churchill Livingstone, c1995-
مواضيع طبية MeSH: Health Knowledge, Attitudes, Practice* , Health Personnel*, Metabolism, Inborn Errors/*diagnosis , Neonatal Screening/*methods, Early Diagnosis ; Female ; Hong Kong ; Humans ; Infant, Newborn ; Male ; Metabolism, Inborn Errors/therapy ; Pilot Projects ; Practice Guidelines as Topic ; Prospective Studies ; Surveys and Questionnaires
مستخلص: Introduction: Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a 14-year-old boy who died of an undiagnosed IEM, the OPathPaed service model was proposed. In the present study, we investigated the feasibility of the OPathPaed model for delivering expanded newborn screening in Hong Kong. In addition, health care professionals were surveyed on their knowledge and opinions of newborn screening for IEM.
Methods: The present prospective study involving three regional hospitals was conducted in phases, from 1 October 2012 to 31 August 2014. The 10 steps of the OPathPaed model were evaluated: parental education, consent, sampling, sample dispatch, dried blood spot preparation and testing, reporting, recall and counselling, confirmation test, treatment and monitoring, and cost-benefit analysis. A fully automated online extraction system for dried blood spot analysis was also evaluated. A questionnaire was distributed to 430 health care professionals by convenience sampling.
Results: In total, 2440 neonates were recruited for newborn screening; no true-positive cases were found. Completed questionnaires were received from 210 respondents. Health care professionals supported implementation of an expanded newborn screening for IEM. In addition, there is a substantial need of more education for health care professionals. The majority of respondents supported implementing the expanded newborn screening for IEM immediately or within 3 years.
Conclusion: The feasibility of OPathPaed model has been confirmed. It is significant and timely that when this pilot study was completed, a government-led initiative to study the feasibility of newborn screening for IEM in the public health care system on a larger scale was announced in the Hong Kong Special Administrative Region Chief Executive Policy Address of 2015.
فهرسة مساهمة: Keywords: Metabolism, inborn errors; Neonatal screening; Pilot projects; Tandem mass spectrometry
تواريخ الأحداث: Date Created: 20180612 Date Completed: 20181211 Latest Revision: 20181211
رمز التحديث: 20231215
DOI: 10.12809/hkmj176939
PMID: 29888706
قاعدة البيانات: MEDLINE