Cell-free DNA levels in pregnant women with thrombophilia: a potential tool for high-risk pregnancy

CEPEDA, JULIETA; RACCA, M. EMILIA; CARDOZO, MARÍA ALEJANDRA; MILESI, M. MERCEDES; VARAYOUD, JORGELINA; LUQUE, ENRIQUE H.; MUÑOZ-DE-TORO, MÓNICA; ROSSETTI, M. FLORENCIA; RAMOS, JORGE GUILLERMO

Mar del Plata

Congreso; Reunión Anual de Sociedades de Biociencias.; 2023

Cell-free DNA (cf-DNA) has been proposed as a valuable tool for pregnancy monitoring and predicting adverse obstetric outcomes. We investigated cf-DNA levels in plasma samples from pregnant women with thrombophilia, a condition associated with an increased risk of abnormal coagulation and potential pregnancy complications. First-trimester pregnant women (aged 28-41 years) were recruited from Laboratorios BLUT and Clínica de Ginecología y Maternidad Central in Santa Fe, Argentina. The patients were divided into two groups: those with thrombophilia (TBF group, n=6) and a control group without thrombophilia (C group, n=12). The TBF group included acquired (n=5) and hereditary (n=1) thrombophilia cases. Plasma cf-DNA was isolated using QIAmp DNA blood mini kit (QIAGEN). Actin-β (ACTB) gene was quantified by real-time quantitative PCR using an ACTB standard curve. Median cf-DNA levels were compared between the groups using the Mann-Whitney test. In addition, the groups were compared for age, thromboprophylaxis, and obstetric history using the Exact Fisher test. No statistically significant differences in age or gestational age were found between the TBF and C groups. In the TBF group, 83% (5/6) of patients used heparin and aspirin for thromboprophylaxis, which was significantly different (p=0.0007) from the control group (0%). Moreover, all women in the TBF group had a history of pregnancy loss, which differed from 33% (4/12) in the C group (p=0.0028), suggesting an associationbetween thrombophilia and adverse pregnancy outcomes. Finally, plasma cf-DNA levels were significantly higher in the TBF group than in the C group (43156 copies/mL vs 14697 copies/mL; p=0.0009). Our findings emphasize the potential of cf-DNA as a non-invasive biomarker for identifying high-risk pregnancies in the first trimester, offering valuable insights for early intervention and more vigilant monitoring of individuals at risk.