Analysis of fetal DNA in biological samples derived from maternal exhaled breath

OBJECTIVES: Detection of cell-free fetal DNA (cffDNA) in maternal plasma has paved the way for non-invasive prenatal testing (NIPT). The ability to detect cffDNA in various body fluids has increased interest in alternative sampling methods. Exhaled breath condensate (EBC) is a non-invasive specimen that allows analysis of genetic materials such as DNA and RNA. This study aimed to investigate the presence of fetal DNA in EBC samples from pregnant women.
Materials and Methods: Thirty pregnant women carrying male fetuses as confirmed by routine ultrasonography were included in the study. EBC samples were collected, and DNA was extracted. The presence of the SRY gene was analyzed using digital droplet PCR (ddPCR).
Results: The mean maternal age was 30.1 years, mean gestational age was 37 weeks, and mean DNA concentration was 17 ng/µl. The SRY gene was detected in 11 of 30 samples (36.6%). All newborns were phenotypically male.
Conclusion: This study demonstrates the detectability of fetal DNA in EBC samples from pregnant women and supports the feasibility of EBC as a novel non-invasive sampling matrix for prenatal genetic analysis. Although further methodological optimization is required, these findings highlight the potential of EBC as an alternative source of fetal genetic material for future prenatal testing applications. &#xD.