Article
Non‑invasive prenatal diagnosis of thalassemia through multiplex PCR, target capture and next‑generation sequencing.
Molecular medicine reports - 1 Aug 2020
Yang Xu, Ye Yanchou, Fan Dongmei, Lin Sheng, Li Ming, Hou Hongying, Zhang Jun, Yang Xuexi
Abstract excerpt
Prenatal clinical detection of thalassemia involves gap‑PCR and reverse dot blot (RDB) analysis of fetal DNA acquired through invasive methods. The present study aimed to develop a non‑invasive prenatal diagnostic method for thalassemia based on next‑generation sequencing (NGS). A total of eight families with proband children with thalassemia were recruited for the study during a subsequent pregnancy. The...
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