Masterclass Convention Hall C invited abstract
May 14, 2019 01:15 PM - 02:29 PM(Asia/Hong_Kong)
20190514T1315 20190514T1429 Asia/Hong_Kong Masterclass 3 - Genetic Services in Hospital Authority

Genetic Services in HA

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M3.1 Hospital Authority (HA) Moving towards New Algorithms in Prenatal Diagnosis.pdf

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M3.2 Chromosomal Microarray (CMA) Replacing Traditional Karyotyping in HA Prenatal Diagnosis Service.pdf

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M3.3a Clinical Utility of Dried Blood Spot Metabolic Tests for Inborn Errors of Metabolism beyond Newborn Screening - Introduction.pdf

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M3.3b Dried blood spots: Clinical Utility.pdf

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M3.3c Dried blood spots: Clinical Utility.pdf

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M3.3d Clinical Utility of Dried Blood Spot Metabolic Tests for Inborn Errors of Metabolism beyond Newborn Screening - The Laboratory Service.pdf

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Convention Hall C HA Convention 2019 hac.convention@gmail.com
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Hospital Authority (HA) Moving towards New Algorithms in Prenatal DiagnosisView Abstract
Speaker 01:20 PM - 01:30 PM (Asia/Hong_Kong) 2019/05/14 05:20:00 UTC - 2019/05/14 05:30:00 UTC
The approach to prenatal diagnosis has been revolutionised by advances in prenatal molecular diagnostics. The most important breakthrough in prenatal screening using maternal plasma cell-free fetal DNA as a non-invasive prenatal testing (NIPT) for fetal chromosomal abnormalities was discovered by Professor Dennis Lo from Hong Kong. Polymerase chain reaction (PCR) as a rapid aneuploidy test, and chromosomal microarray (CMA) for molecular karyotyping are going to replace traditional karyotyping. Whole exome sequencing (WES) and whole genome sequencing (WGS) are coming. Ultrasound does maintain a pivotal role, being the strongest link between the various tests in the new algorithms. New algorithms in prenatal diagnosis are evolving and becoming increasingly complicated (Figure 1, from Leung WC. New algorithms in prenatal diagnosis. MIMS JPOG 2017;43(2):81-8). The goal is to maximize the prenatal information for pregnant women and their families to make choices for their next generations.
Chromosomal Microarray (CMA) Replacing Traditional Karyotyping in HA Prenatal Diagnosis ServiceView Abstract
Speaker 01:30 PM - 01:50 PM (Asia/Hong_Kong) 2019/05/14 05:30:00 UTC - 2019/05/14 05:50:00 UTC
Traditional karyotyping had been the standard test for prenatal diagnosis in Hong Kong since 1981. Chromosomal microarray (CMA), either performed by array comparative genomic hybridization (aCGH) or single nucleotide polymorphism (SNP) array has become more widely used 30 years later. CMA offers increased diagnostic yield on detection of submicroscopic changes (microdeletions and microduplications) not detected by karyotyping and at a shorter reporting time. The new workflow of using CMA as primary test in HA prenatal diagnostic service include rapid aneuploidy detection by quantitative fluorescent polymerase chain reaction (QF-PCR) to exclude trisomies 13, 18, 21, monosomy X and triploidy (these aneuploidies would proceed to karyotyping only). Those with normal QF-PCR results would proceed to CMA. The new workflow would be offered to patients who undergo invasive prenatal diagnosis, stillbirth and second trimester miscarriage. The cost-effectiveness of the new algorithm can be demonstrated from both the healthcare system and societal perspectives. This shall enhance patient access to improved clinical laboratory service and patient care pathways in prenatal diagnosis.
Presenters Anita Kan
Clinical Utility of Dried Blood Spot Metabolic Tests for Inborn Errors of Metabolism beyond Newborn Screening - IntroductionView Abstract
Speaker 01:50 PM - 01:55 PM (Asia/Hong_Kong) 2019/05/14 05:50:00 UTC - 2019/05/14 05:55:00 UTC
Use of dried blood spots (DBS) to screen newborns for inborn errors of metabolism (IEM) began as a pilot study in Hong Kong (HK) in 2015. Results from the pilot study showed the collective incidence of the 24 screened conditions to be 1 in 1,682. The pilot study demonstrated feasible logistics and a higher than previous estimation of 1 in 4,500 incidence of IEM in HK. Thus, upon completion of the pilot study, the HK government decided to extend the program in phases to all babies born in government hospitals. Universal implementation of metabolic newborn screening has only been made possible by usage of tandem mass spectrometry technology to process the DBS cards collected from newborn babies. The same technology can also be utilized and applied beyond the newborn period with some limitations. The rapid turnover time for important metabolic analytes makes it an attractive tool to frontline clinicians managing sick newborns and children while awaiting conventional confirmatory investigations. We present three cases in whom timely diagnosis of an IEM condition was made using DBS cards. We would like to raise awareness of physicians to the extended scope of using dried blood spots to diagnose IEM diseases beyond the newborn period.
Presenters Joannie Hui
Dried blood spots: Clinical UtilityView Abstract
Speaker 01:55 PM - 02:00 PM (Asia/Hong_Kong) 2019/05/14 05:55:00 UTC - 2019/05/14 06:00:00 UTC
Use of dried blood spots (DBS) to screen newborns for inborn errors of metabolism (IEM) began as a pilot study in Hong Kong (HK) in 2015. Results from the pilot study showed the collective incidence of the 24 screened conditions to be 1 in 1,682. The pilot study demonstrated feasible logistics and a higher than previous estimation of 1 in 4,500 incidence of IEM in HK. Thus, upon completion of the pilot study, the HK government decided to extend the program in phases to all babies born in government hospitals. Universal implementation of metabolic newborn screening has only been made possible by usage of tandem mass spectrometry technology to process the DBS cards collected from newborn babies. The same technology can also be utilized and applied beyond the newborn period with some limitations. The rapid turnover time for important metabolic analytes makes it an attractive tool to frontline clinicians managing sick newborns and children while awaiting conventional confirmatory investigations. We present three cases in whom timely diagnosis of an IEM condition was made using DBS cards. We would like to raise awareness of physicians to the extended scope of using dried blood spots to diagnose IEM diseases beyond the newborn period.
Dried blood spots: Clinical UtilityView Abstract
Speaker 02:00 PM - 02:10 PM (Asia/Hong_Kong) 2019/05/14 06:00:00 UTC - 2019/05/14 06:10:00 UTC
Use of dried blood spots (DBS) to screen newborns for inborn errors of metabolism (IEM) began as a pilot study in Hong Kong (HK) in 2015. Results from the pilot study showed the collective incidence of the 24 screened conditions to be 1 in 1,682. The pilot study demonstrated feasible logistics and a higher than previous estimation of 1 in 4,500 incidence of IEM in HK. Thus, upon completion of the pilot study, the HK government decided to extend the program in phases to all babies born in government hospitals. Universal implementation of metabolic newborn screening has only been made possible by usage of tandem mass spectrometry technology to process the DBS cards collected from newborn babies. The same technology can also be utilized and applied beyond the newborn period with some limitations. The rapid turnover time for important metabolic analytes makes it an attractive tool to frontline clinicians managing sick newborns and children while awaiting conventional confirmatory investigations. We present three cases in whom timely diagnosis of an IEM condition was made using DBS cards. We would like to raise awareness of physicians to the extended scope of using dried blood spots to diagnose IEM diseases beyond the newborn period.
Presenters Sheila Wong
Clinical Utility of Dried Blood Spot Metabolic Tests for Inborn Errors of Metabolism beyond Newborn Screening - The Laboratory ServiceView Abstract
Speaker 02:10 PM - 02:20 PM (Asia/Hong_Kong) 2019/05/14 06:10:00 UTC - 2019/05/14 06:20:00 UTC
Inborn errors of metabolism (IEM) comprise a large group of both clinically and etiologically heterogeneous disorders involving in human metabolism. There are more than 1000 different IEM disorders ranging from organic acidemias, amino acid metabolism, urea cycle defects, fatty acid oxidation, mitochondrial disorders, carbohydrate metabolism disorders, peroxisomal disorders, purines and pyrimidines metabolism, transport and mineral disorders, mucopolysaccharidoses, mucolipidoses, cholesterol and neural lipid metabolism, lipid storage disorders, lysosomal disorders, and miscellaneous.
IEM can present at any age from fetus to elderly. Clinical presentations of IEM are protean and often non-specific rendering clinical diagnostic difficulties. So far, there is no single "universal" screening test available for all IEM. In order to achieve an accurate and timely diagnosis, a right test should be carefully chosen on a case-to-case basis. 
IEM are individually rare but collectively common with an overall incidence of at least 1 in 1400. The local incidence of amino acidemias, urea cycle defects, fatty acid oxidation disorders and organic acidemias is about 1 in 4000.
However, for detection of these four IEM groups, the diagnostic values of spot urinary tests (Ferric Chloride test, Dinitrophenylhydrazine test, Berry test, Nitroprusside-cyanide test and Nitrosonaphthol test) are limited. While performing plasma amino acids, plasma acylcarnitines and urinary organic acids analyses are very laborious and time consuming, the wide-spread uses are often restricted. 
In view of the above disadvantages and limitations, we introduce you a better service of dried blood spot broad spectrum metabolic test by tandem mass spectrometry, which has been extensively studied internationally for its commendable diagnostic performance. This test serves as the first-line broad spectrum metabolic test for some disorders in amino acids, urea cycle, fatty acid oxidation and organic acids metabolism.


Presenters Chloe Mak
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