Research Progress of Cell-Free Fetal DNA in Non-Invasive Prenatal Diagnosis of Thalassemia

Abstract

Thalassemia is a genetic disease that seriously affects the health of the fetus. At present, invasive prenatal diagnosis is the main method of thalassemia screening, but invasive prenatal diagnosis has the risk of fetal abortion. The discovery of cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women provides the possibility for non-invasive prenatal diagnosis (NIPD). Rapid and efficient capture of mutational information on cffDNA in maternal plasma can help prevent the birth of children with thalassemia major. Currently, strategies for cffDNA-based NIPD of thalassemia include the detection of paternal mutations in maternal plasma, detection of a proportion of wild and mutant alleles in maternal plasma, linkage disequilibrium single nucleotide polymorphism (SNP) based on pedigree probands, and prediction of fetal genotypes by bioinformatics combined with population information. Therefore, this paper will focus on the above aspects, in order to provide an essential reference to the prevention and treatment of thalassemia.

Keywords:

• Thalassemia
• cell-free fetal DNA (cffDNA)
• single nucleotide polymorphism (SNP)
• bioinformatics
• noninvasive prenatal diagnosis (NIPD)

Author contributions

TW and DL conceived the manuscript. DL, NC and FL performed the relevant literature search. DL and CN drafted the manuscript. YT and TW contributed to a critical revision of the manuscript. All authors have both read and approved the final version of the manuscript.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This manuscript was supported by grants from the Guangxi Young and Middle-aged Teachers’ basic ability improvement Project (2019KY0575) and Guangxi Natural Science Foundation of China (2019GXNSFBA245101).