Article
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Clinical chemistry - 1 Mar 2023
Liang Qiaowei, He Jun, Li Qing, Zhou Yulin, Liu Yanqiu, Li Youqiong, Tang Lingfang, Huang Shengwen, Li Rong, Zeng Fanqian, Mao Aiping, Liu Yinyin, Liang Desheng, Wu Lingqian
Abstract excerpt
BACKGROUND: The aim is to evaluate the clinical utility of a long-read sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) in prenatal diagnosis of thalassemia. METHODS: A total of 278 fetuses from at-risk pregnancies identified in thalassemia carrier screening by PCR-based methods were recruited from 9 hospitals, and PCR-based methods were employed for prenatal diagnosis. CATSA...
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