Abstract: Non-invasive prenatal diagnosis (NIPD) based on the analysis of cell-free fetal DNA (cffDNA) in maternal plasma has been applied in clinical practice for more and more monogenic conditions. NIPD allows parents with high risk pregnancies the option of safer testing with a maternal blood sample rather than invasive prenatal diagnosis that carries a small miscarriage risk. In some countries the NIPD method has been used to diagnose some single gene disorders, and it does not need to be verified by invasive prenatal diagnosis. This paper mainly reviews the research progress and challenges of NIPD.

Key words: prenatal diagnosis, genetic diseases, inborn, cell-free fetal DNA, non-invasive prenatal diagnosis