Overview and recent developments in cell-based noninvasive prenatal testing

Investigators have long been interested in the natural phenomenon of fetal and placental cell trafficking into the maternal circulation. The scarcity of these circulating cells makes their detection and isolation technically challenging. However, as a DNA source of fetal origin not mixed with maternal DNA, they have the potential of considerable benefit over circulating cell-free DNA-based noninvasive prenatal genetic testing (NIPT). Endocervical trophoblasts, which are less rare but more challenging to recover are also being investigated as an approach for cell-based NIPT. We review published studies from around the world describing both forms of cell-based NIPT and highlight the different approaches' advantages and drawbacks. We also offer guidance for developing a sound cell-based NIPT protocol.

Automated summary

Investigators have been interested in the natural phenomenon of fetal and placental cell trafficking into the maternal circulation. The scarcity of these cells makes their detection and isolation technically challenging, but they have the potential for considerable benefit over cell-free DNA-based NIPT. Endocervical trophoblasts are also being investigated as an approach for cell-based NIPT, with different approaches' advantages and drawbacks being highlighted in studies around the world. Guidance for developing a sound cell-based NIPT protocol is also provided.