Abstract
The discovery and research of cell-free fetal DNA (cffDNA) greatly promoted the development of noninvasive prenatal testing (NIPT). With the continuous optimization of high-throughput sequencing technology and the development of bioinformatics, NIPT showed its wide application prospects and clinical value from 21-trisomy syndrome, 18-trisomy syndrome and 13-trisomy syndrome chromosomal aneuploidy to copy number variation and single gene disease research. This article focuses on the detection research progress of cffDNA by NIPT. Key words: Base Sequence; Prenatal diagnosis; Sequence analysis; Fetal diseases
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