[HTML][HTML] Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

S Zhao, J Xiang, C Fan, fnm Asan, X Shang… - European journal of …, 2019 - nature.com
Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of
carriers compared with traditional tests. The aim of this study was to assess the potential
value of ECS for clinical application in Southern China, a region with high prevalence of
thalassemia and with diverse ethnic groups, and to provide a reference for future
implementations in areas with similar population characteristics. A total of 10,476 prenatal/
preconception couples from 34 self-reported ethnic groups were simultaneously tested and …

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

ZSM Zhao SuMin, XJL Xiang JiaLe, FCN Fan ChunNa… - 2019 - cabidigitallibrary.org
Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of
carriers compared with traditional tests. The aim of this study was to assess the potential
value of ECS for clinical application in Southern China, a region with high prevalence of
thalassemia and with diverse ethnic groups, and to provide a reference for future
implementations in areas with similar population characteristics. A total of 10,476 prenatal/
preconception couples from 34 self-reported ethnic groups were simultaneously tested and …
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