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

OYM Chan, TY Leung, Y Cao, AHW Kwan… - Hong Kong Medical …, 2021 - hkmj.org
… followed, many carriers and all five carrier couples identified in our … Pilot study of expanded
carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse

Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology

SC Chen, XY Zhou, SY Li, MM Zhao, HF Huang… - Journal of Assisted …, 2023 - Springer
… The result of the screening would serve as a crucial point to … representative ethnic populations,
and X-linked conditions with … study screened for 11 recessive diseases in Southern China

Clinical implementation of expanded carrier screening in pregnant women at early gestational weeks: a Chinese cohort study

M Shi, AL Liauw, S Tong, Y Zheng, TY Leung… - Genes, 2021 - mdpi.com
… , screened 11 Mendelian disorders in 10,476 prenatal/preconception couples of the southern
China, and the overall carrier rate … Kong Chinese families: A pilot study. Hong Kong Med. J. …

The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases

X Zhang, Q Chen, J Li, X Luo, J Luo, J Li, Z Zeng… - Human Genomics, 2024 - Springer
… of few studies to estimate the effectiveness of ECS in the Chinese … Our findings suggest a
need to promote ECS in clinical … In this study, phenotypically normal couples were screened at …

Knowledge and attitudes toward expanded carrier screening between the medical staff and general population in China

J Yang, M Chen, H Wu, W Shen, J Han, Y Fu… - European Journal of …, 2021 - Elsevier
… of carrier couples of autosomal recessive disorders in the … A pilot study of ECS for 11
autosomal recessive diseases in … Some findings in our study were consistent with the …

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology

Y Xi, G Chen, C Lei, J Wu, S Zhang… - Molecular genetics & …, 2020 - Wiley Online Library
… on 10,476 prenatal/preconception couples from 34 Chinese … In this study, we launched
a pilot population-based ECS for … Our results suggest a need to implement ECS in the ART …

[HTML][HTML] A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns

X Luo, Y Sun, F Xu, J Guo, L Li, Z Lin, J Ye… - Annals of …, 2020 - ncbi.nlm.nih.gov
… of Mendelian disorders in China vary according to the diverse ethnicpilot study of expanded
carrier screening for 11 recessive diseases in China reported that the overall PAH carrier

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study

S Zhao, W Wang, Y Wang, R Han, C Fan, P Ni… - European Journal of …, 2021 - nature.com
… population for the first time, and our results demonstrated that … of autosomal recessive or
X-linked genetic disorders between … more than 90% after several decades’ implementation [11]. …

Clinical application value of expanded carrier screening in the population of childbearing age

Y Fang, J Li, M Zhang, Y Cheng, C Wang… - … of Medical Research, 2023 - Springer
… of expanded carrier screening (ECS) in Chinese population of … measures for high-risk couples
before pregnancy or in early … Finally, the results of this study were not evaluated by NGS. …

Clinical utility of medical exome sequencing: expanded carrier screening for patients seeking assisted reproductive technology in China

K Tong, W He, Y He, X Li, L Hu, H Hu, G Lu… - Frontiers in …, 2022 - frontiersin.org
… (ECS) is an effective method to identify at-risk couples (ARCs) … autosomal recessive disorders
and G6PD for X-linked diseases. … Taken together with the results in this study, we make the …