NIPT detects occult maternal malignancies via cfDNA aberration profiling: a case report

Non-Invasive Prenatal Testing (NIPT), primarily used for fetal aneuploidy screening, can incidentally detect occult maternal malignancies through abnormal genomic patterns such as multiple chromosomal aneuploidies (MCAs) or copy number variations (CNVs). These findings, often discordant with fetal results, have led to diagnoses of various cancers, including breast cancer, lymphoma, and ovarian cancer. Although promising for early detection, this application is currently limited by low specificity for early-stage tumors and the absence of standardized clinical protocols. Multidisciplinary collaboration and the development of integrated predictive models combining cell-free DNA (cfDNA) analysis with serum biomarkers are essential to improve diagnostic accuracy and guide appropriate maternal follow-up.