The potential of serum fetal DNA for early diagnosis of gestational trophoblastic disease

Objective: To study cell-free DNA (cfDNA) levels in patients with gestational trophoblastic disease (GTD) in order to test the hypothesis that cfDNA circulating in maternal plasma could provide early detection of GTD. Materials and Methods: This study included 32 patients with GTD (complete mole and partial mole) and 30 non-GTD patients in the first trimester of pregnancy with no other medical problems. cfDNA levels in maternal serum were measured using polymerase chain reaction analysis on Y-chromosome-specific sequences. Results: cfDNA was found as 327 +/- 367 pg on average in the control group and 600 +/- 535 pg in the GTD group. Within the GTD group, the partial mole group had an cfDNA average of 636 +/- 549 pg, and the complete mole group had an cfDNA average of 563 +/- 536 pg. Although there was a statistically significant difference between the GTD group and the control group in terms of cfDNA (p=0.02), there was no statistically significant difference between the complete mole group and the partial mole group (p=0.76). Conclusion: Non-parametric analysis of covariance in terms of cfDNA in GTD was performed, thereby increasing its power and revealing a significant difference compared with the control group. This indicates that maternal peripheral bloodstream cfDNA monitoring might be significant in the early diagnosis of GTD.