NEJM Study: Prenatal Blood Test May Detect Hidden Cancers in 1 in 2 Pregnant Women

Dec 5, 2024, 11:45 AM

A study published in the New England Journal of Medicine (NEJM) has revealed that prenatal blood tests, specifically cell-free DNA (cfDNA) sequencing for fetal aneuploidy, can sometimes indicate the presence of hidden cancers in pregnant women. The IDENTIFY study found that among 107 participants with unusual or nonreportable results from these tests, approximately half were diagnosed with an occult cancer. Most of the genetic variants detected were copy number variations (CNVs) across multiple chromosomes. The study was conducted by commercial laboratories in North America and highlights the potential of prenatal testing to alert healthcare providers to maternal health issues beyond fetal conditions.