Fetal CNAPS – DNA/RNA

Abstract

The discovery of fetal circulating nucleic acids in maternal plasma and serum has revolutionized prenatal genetic testing by providing a non-invasive source of fetal genetic material. Since fetal DNA coexists with a high background of maternal DNA in the maternal plasma, early studies in the field have been focused on the detection of paternally inherited sequences that are absent from the maternal genome. This approach has been applied to fetal sex and blood type determination, as well as the detection of paternally inherited mutations causing single-gene disorders. The emergence of single molecule counting technologies, such as digital PCR and massively parallel sequencing, have allowed the detection of subtle allelic imbalances and the precise quantification of sequences in the maternal plasma. This precise quantification has enabled the deduction of maternally inherited fetal monogenic diseases, as well as the accurate detection of fetal chromosomal aneuploidies. While some of the applications of fetal circulating nucleic acid have been rapidly incorporated into clinical practice, a number of ethical, legal and social issues have been raised regarding the current and potential use of this technology. Overall, research on fetal circulating nucleic acids in maternal plasma and serum is a rapidly developing and exciting area. It is envisioned that the use of fetal circulating nucleic acids in maternal plasma and serum will play an increasingly important role in prenatal care.