Maternal Malignancy Evaluation After Discordant Cell-Free DNA Results

Area of Science:

• Reproductive genetics and oncology.

Background:

• Cell-free DNA (cfDNA) screening for fetal aneuploidy is increasingly used in high- and low-risk pregnancies.
• Its superior detection rate for trisomy 21 compared to traditional methods drives adoption.

Observation:

• False-positive cfDNA screening results can indicate adverse maternal conditions, such as mosaicism or malignancy.
• A significantly elevated risk of maternal cancer is associated with detecting multiple aneuploidies discordant from the fetal karyotype.

Findings:

• The study reviews literature and proposes an algorithm for evaluating women with discordant multiple aneuploidy results.
• This approach addresses the rising incidence of cancer in pregnancy.

Implications:

• Patient counseling and malignancy evaluation are crucial for women with discordant multiple aneuploidies on cfDNA screening.
• Early detection and management of potential maternal cancers can improve outcomes.