Article
Non-invasive prenatal diagnosis of thalassemias using maternal plasma cell free DNA.
Best practice & research. Clinical obstetrics & gynaecology - 1 Feb 2017
Hudecova Irena, Chiu Rossa W K
Abstract excerpt
Non-invasive prenatal testing (NIPT) using maternal plasma cell free DNA has already reshaped the existing prenatal care system for pregnancies screened for common chromosomal aneuploidies. On the other hand, much progress has been made in developing NIPT for monogenic diseases. Thalassemia served as a disease model to develop strategies for NIPT of monogenic traits. One approach focuses on the detection or...
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