Cell Free DNA in Pregnancy: From Fetal Screening to Uncovering Maternal Malignancies
- Understand the biological basis and clinical applications of cell-free DNA analysis in non-invasive prenatal testing (NIPT), including how fetal DNA fragments circulate in maternal plasma and enable screening for chromosomal fetal abnormalities and single gene disorders
- Recognize the potential of cfDNA screening to incidentally detect maternal cancers, exploring the mechanisms by which tumor-derived DNA appears in plasma and the characteristic genomic signatures that distinguish malignancy from fetal aneuploidies
- Evaluate the clinical, ethical, and counseling challenges that arise when prenatal screening unexpectedly reveals maternal malignancies, including follow-up protocols, patient communication strategies, and the evolving role of cfDNA as a dual-purpose diagnostic tool