Abstract: Thalassemiases are a group of the most common monogenic diseases in southern provinces of China. It is first choice method to prevent the birth of the affected children by prenatal genetic diagnosis in those high-risk couples through invasive sampling, which is widely accepted in the world. The risk of fetal injury, miscarriage or intrauterine infection may be caused by the invasive operation to collect villus, amniotic fluid, or cord blood for prenatal diagnosis. Since the cell-free fetal DNA（cff-DNA） was discovered in maternal plasma, the cff-DNA-based non-invasive prenatal diagnosis（NIPD） technology has been rapidly developed. The cff-DNA-based NIPD is safer and easily acceptable. In this review, noninvasive approaches in prenatal diagnosis of thalassemias were briefly discussed.

Key words: alpha-thalassemia, beta-thalassemia, Prenatal diagnosis, DNA, Sequence analysis