Expanded newborn metabolic screening programme in Hong Kong: a three-year journey

Chong, Shang Chee; Law, Lai Wa; Hui, Joannie; Lai, Ching‐Long; Leung, Thomas; Yuen, Yin

doi:10.12809/hkmj176274

Cited by 11 publications

(8 citation statements)

References 15 publications

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“…A Hong Kong study reported a high incidence of CACT deficiency (3.3 per 100,000), but this involved a single confirmed case in a relatively small carrier screening population (30,448 neonates). 33 Similarly, three unrelated cases of CACT deficiency from different ethnic groups were reported in a New Zealand NBS program of 185,000 neonates screened from 2006 to 2009. 34 This unlikely cluster led to an incidence of 1.6 per 100,000 and should be viewed as an outlier against the background of most other reported incidences.…”

Section: Epidemiology Of Faods By Country and Regionmentioning

confidence: 97%

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

Marsden

Bedrosian

Vockley

2021

Genetics in Medicine

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Fatty acid oxidation disorders (FAODs) are potentially fatal inherited disorders for which management focuses on early disease detection and dietary intervention to reduce the impact of metabolic crises and associated spectrum of clinical symptoms. They can be divided functionally into long-chain (LC-FAODs) and medium-chain disorders (almost exclusively deficiency of medium-chain acyl–coenzyme A dehydrogenase). Newborn screening (NBS) allows prompt identification and management. FAOD detection rates have increased following the addition of FAODs to NBS programs in the United States and many developed countries. NBS-identified neonates with FAODs may remain asymptomatic with dietary management. Evidence from numerous studies suggests that NBS-identified patients have improved outcomes compared with clinically diagnosed patients, including reduced rates of symptomatic manifestations, neurodevelopmental impairment, and death. The limitations of NBS include the potential for false-negative and false-positive results, and the need for confirmatory testing. Although NBS alone does not predict the consequences of disease, outcomes, or management needs, subsequent genetic analyses may have predictive value. Genotyping can provide valuable information on the nature and frequency of pathogenic variants involved with FAODs and their association with specific phenotypes. Long-term follow-up to fully understand the clinical spectrum of NBS-identified patients and the effect of different management strategies is needed.

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Section: Epidemiology Of Faods By Country and Regionmentioning

confidence: 97%

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

Marsden

Bedrosian

Vockley

2021

Genetics in Medicine

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“…In Taiwan two patients with hypermethioninemia (without information on the genetic basis of the alteration) were reported by Huang et al [16] as identified by an expanded newborn screening program performed on 199,922 newborns from 2001 to 2004 (1:99961), confirming the results obtained from neonatal screening for homocystinuria in that region (1 case of CBS deficiency, 1:1701591, and 16 cases of MATI/III deficiency, 1:106350; total incidence: 1:100094) [17]. A three year-journey in Hong Kong recently reported one patient with hypermethioninemia due to MAT deficiency (1:30448) [18]. In China a pilot study screened 371,942 neonates, identifying 98 cases of inborn errors of metabolism; among these three were patients affected by homocystinuria (1:123,981) [19].…”

Section: Resultsmentioning

confidence: 52%

“…1: Naylor et al [9]; 2: Zytkovichz et al [13]; 3: Frazier et al [11]; 4: CDC report [12]; 5: Torres-Sepulveda et al [14]; 6: Nagao et al [15]; 7: Wilcken et al [21]; 8: Chong et al [18]; 9: Huang et al [16]; 10: Shi et al [19]; 11: Lindner et al [20]; 12: Marcao et al [22]; 13: Couce et al [23]; 14: la Marca et al [24]; 15: Messina et al [25]; 16: Scolamiero et al [1]; 17: this paper.…”

Section: Resultsmentioning

confidence: 99%

Hypermethioninemia in Campania: Results from 10 years of newborn screening

Villani¹,

Albano²,

Caterino³

et al. 2019

Molecular Genetics and Metabolism Reports

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In the last years tandem mass spectrometry (MS/MS) has become a leading technology used for neonatal screening purposes. Newborn screening by MS/MS on dried blood spot samples (DBS) has one of its items in methionine levels: the knowledge of this parameter allows the identification of infant affected by homocystinuria (cystathionine β-synthase, CBS, deficiency) but can also lead, as side effect, to identify cases of methionine adenosyltransferase (MAT) type I/III deficiency.We started an expanded newborn screening for inborn errors of metabolism in Campania region in 2007. Here we report our ten years experience on expanded newborn screening in identifying patients affected by hypermethioninemia. During this period we screened approximately 77,000 infants and identified two cases: one case of classical homocystinuria and one patient affected by defect of MAT I/III. In this paper we describe these patients and their biochemical follow-up and review the literature concerning worldwide newborn screening reports on incidence of CBS and MAT deficiency.

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“…An expanded newborn screening has been implemented in Hong Kong over the past few years and will become part of the routine care for all newborns delivered in public hospitals at no cost from 2021. (9,10) Currently, rDBS from the expanded newborn screening in Hong Kong are stored for 2 years after which they will be destroyed. With informed consent from parents, the laboratory could store the rDBS for longer for medical research after removing all identifying information.…”

Section: A Consent Challengementioning

confidence: 99%

The view of Hong Kong parents on secondary use of dried blood spots in newborn screening program

Hui

Deng

Leung

et al. 2022

Preprint

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Background Residual dried blood spots (rDBS) from newborn screening programmes represent a valuable resource for medical research, from basic sciences, through clinical to public health. In Hong Kong, there is no legislation for biobanking. Methods A mixed-method approach was used to study the views and concerns on long-term storage and secondary use of rDBS from newborn screening programmes among Hong Kong Chinese parents of children 0–3 years or expecting parents through focus groups (8 groups; 33 participants) and a survey (n = 1012, 85% mothers). We used framework analysis to summarise the themes as supportive factors, concerns and critical arguments for retention and secondary use of rDBS from focus group discussion. We used multiple logistic regression to assess factors associated with support for retention and secondary use of rDBS in the survey. Results In both focus groups and survey, majority of parents were not aware of the potential secondary use of rDBS. Overall secondary use of rDBS in medical research was well accepted by a large proportion of Hong Kong parents, even if all potential future research could not be specified in a broad consent. However parents were concerned about potential risks of biobanking rDBS including leaking of data and mis-use of genetic information. Parents wanted to be asked for permission before rDBS are stored and mainly did not accept an “opt-out” approach. The survey showed that parents born in mainland China, compared to Hong Kong born parents, had lower awareness of newborn screening but higher support in biobanking rDBS. Higher education was associated with support in rDBS biobanking only among fathers. Conclusions Long-term storage and secondary use of rDBS from newborn screening for biomedical research and a broad consent for biobanking of rDBS are generally acceptable to Hong Kong parents given their autonomy is respected and their privacy is protected, highlighting the importance of an accountable governance and a transparent access policy for rDBS biobanks.

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Expanded newborn metabolic screening programme in Hong Kong: a three-year journey

Cited by 11 publications

References 15 publications

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

Hypermethioninemia in Campania: Results from 10 years of newborn screening

The view of Hong Kong parents on secondary use of dried blood spots in newborn screening program

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Expanded newborn metabolic screening programme in Hong Kong: a three-year journey

Cited by 11 publications

References 15 publications

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

Hypermethioninemia in Campania: Results from 10 years of newborn screening

The view of Hong Kong parents on secondary use of dried blood spots in newborn screening program

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Hypermethioninemia in Campania: Results from 10 years of newborn screening