Article
Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing.
Prenatal diagnosis - 1 Mar 2015
Xiong Li, Barrett Angela N, Hua Rui, Tan Tuan Zea, Ho Sherry Sze Yee, Chan Jerry K Y, Zhong Mei, Choolani Mahesh
Abstract excerpt
OBJECTIVE: To develop an accurate non-invasive prenatal test using next generation sequencing (NGS) for HbE and the four most common β-thalassaemia mutations found in South East Asia (namely -28A > G, CD17A > T, CD41/42(-TTCT) and IVS-II-654C > T). METHODS: Cell-free DNA was extracted from maternal plasma from 83 families where both parents were carriers of the HbE mutation or one of four common β-thalassaemia...
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