Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study

Chan, Olivia Ym; Leung, TY; Cao, Ye; Shi, MM; Kwan, Angel Hw; Chung, Jacqueline Pui Wah; KW, Choy; Chong, Shang Chee

doi:10.12809/hkmj208486

Cited by 11 publications

(8 citation statements)

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“…To further reduce mortality associated with hereditary genetic disorders such as spinal muscular atrophy and fetal akinesia syndrome (which caused NND in 5 cases), there is a need for expanded carrier screening of parents, particularly in families with a history of consanguineous marriage. 10,11 The other main congenital abnormalities that caused NND in our cohort were cardiorespiratory and neuromusculoskeletal disorders, among which congenital diaphragmatic hernia was the most common. Although survival was common among neonates with mild to moderate congenital diaphragmatic hernia, neonates with severe congenital diaphragmatic hernia had a survival rate of 10% to 20% because of pulmonary hypoplasia.…”

Section: Neonatal Death Due To Congenital Abnormalitiesmentioning

confidence: 91%

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Neonatal mortality in singleton pregnancies: a 20-year retrospective study from a tertiary perinatal unit in Hong Kong

et al. 2022

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Introduction:The global neonatal death (NND) rate has been declining in recent decades, but there are no comprehensive data concerning the characteristics of NNDs in Hong Kong. This study investigated the trends and aetiologies of NNDs among singleton pregnancies in Hong Kong. Methods:This study included all cases of NND from singleton pregnancies in a tertiary hospital in Hong Kong between 2000 and 2019. The rates, clinical characteristics, and aetiologies of NND were compared between the first (2000)(2001)(2002)(2003)(2004)(2005)(2006)(2007)(2008)(2009) and the second (2010-2019) decades. Results:The NND rate decreased from 1.66/1000 livebirths (97 cases) in the first decade to 1.32/1000 livebirths (87 cases) in the second decade. Congenital or genetic abnormalities (82 cases) caused 44.6% of all NNDs. There was a significant reduction from 0.82/1000 livebirths in the first decade to 0.52/1000 livebirths in the second decade (P=0.037). Other causes of NND were prematurity (69 cases; 37.5%), sepsis (16 cases; 8.7%), hypoxic-ischaemic encephalopathy (15 cases; 8.2%), and sudden infant death syndrome (2 cases; 1.1%). Gestational agespecific neonatal mortality for moderately preterm neonates (31-33 weeks of gestation) significantly decreased from 34.73/1000 in 2000-2009 to

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Section: Neonatal Death Due To Congenital Abnormalitiesmentioning

confidence: 91%

“…15,16 Although spinal muscular atrophy has no cure, it can be prevented by accurate parental carrier screening using genomic technology and prenatal diagnosis. 10…”

Section: Neonatal Death Due To Congenital Abnormalitiesmentioning

confidence: 99%

Neonatal mortality in singleton pregnancies: a 20-year retrospective study from a tertiary perinatal unit in Hong Kong

et al. 2022

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“…The cost of an ECS panel is often higher than that of a limited panel. The high cost may result in a low level of acceptance of the screening program in China 42 . Third, the prevalence of many rare diseases and the mutation spectra of disease genes in the Chinese population remain uncertain 41 .…”

Section: Discussionmentioning

confidence: 99%

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population

Tan

Yu³

et al. 2022

npj Genom. Med.

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Expanded carrier screening, a type of reproductive genetic testing for couples, has gained tremendous popularity for assessing the risk of passing on certain genetic conditions to offspring. Here, a carrier screening assay for 448 pathogenic variants was developed using capillary electrophoresis-based multiplex PCR technology. The capillary electrophoresis-based multiplex PCR assay achieved a sensitivity, specificity, and accuracy of 97.4%, 100%, and 99.6%, respectively, in detecting the specific variants. Among the 1915 couples (3830 individuals), 708 individuals (18.5%) were identified as carriers for at least one condition. Of the 708 carriers, 633 (89.4%) were heterozygous for one condition, 71 (10.0%) for two disorders, 3 (0.4%) for three disorders, and 1 (0.1%) for four disorders. Meanwhile, 30 (1.57%) couples were identified as at‐risk couples. This study describes an inexpensive and effective method for expanded carrier screening. The simplicity and accuracy of this approach will facilitate the clinical implementation of expanded carrier screening.

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“…Singh et al used a targeted NGS based approach to analyze 200 unrelated individuals from northern India; they found a carrier frequency of 26% and also highlighted that most of the pathogenic variants identified were different from those commonly found in the West, thus underlying the advantage to use NGS [ 35 ]. Similarly, Chan et al, using a NGS-based ECS to evaluate 123 infertile Chinese women, found that 58.7% of the tested individuals were carriers of at least a disease and suggested the use of ECS to better estimate carrier frequency in Chinese people [ 36 ].…”

Section: Expanded Carrier Screening: Definition Pros and Consmentioning

confidence: 99%

Current Updates on Expanded Carrier Screening: New Insights in the Omics Era

et al. 2022

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Genetic carrier screening has been successfully used over the last decades to identify individuals at risk of transmitting specific DNA variants to their newborns, thus having an affected child. Traditional testing has been offered based on familial and/or ethnic backgrounds. The development of high-throughput technologies, such as next-generations sequencing, able to allow the study of large genomic regions in a time and cost-affordable way, has moved carrier screening toward a more comprehensive and extensive approach, i.e., expanded carrier screening (ECS). ECS simultaneously analyses several disease-related genes and better estimates individuals’ carrier status. Indeed, it is not influenced by ethnicity and is not limited to a subset of mutations that may arise from poor information in some populations. Moreover, if couples carry out ECS before conceiving a baby, it allows them to obtain a complete estimation of their genetic risk and the possibility to make an informed decision regarding their reproductive life. Despite these advantages, some weakness still exists regarding, for example, the number of genes and the kind of diseases to be analyzed and the interpretation and communication of the obtained results. Once these points are fixed, it is expectable that ECS will become an ever more frequent practice in clinical settings.

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Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study

Cited by 11 publications

References 0 publications

Neonatal mortality in singleton pregnancies: a 20-year retrospective study from a tertiary perinatal unit in Hong Kong

Neonatal mortality in singleton pregnancies: a 20-year retrospective study from a tertiary perinatal unit in Hong Kong

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population

Current Updates on Expanded Carrier Screening: New Insights in the Omics Era

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