Publications by authors named "Pablo Marchili"
Article Synopsis
- Cell-free DNA screening is a noninvasive method used to detect common fetal trisomies and can also identify rare autosomal aneuploidies (RAAs) and other genetic anomalies.
- A global study involving 109 cases showed that about 20.3% of patients with a positive cfDNA result for RAAs were confirmed to have one after diagnostic testing, with many experiencing adverse pregnancy outcomes.
- The findings suggest that genome-wide cfDNA screening can inform pregnancy management and counseling, as it may help explain negative outcomes and lead to closer monitoring.
