Prenatal Cell-free DNA Sequencing and Incidental Detection of Maternal Cancer
( N Engl J Med. 2024;391(22):2123–2132. doi: 10.1056/NEJMoa2401029) The study investigates the incidental detection of maternal cancer through prenatal cell-free DNA (cfDNA) sequencing, which is primarily used for screening fetal aneuploidy. The unexpected discovery of maternal malignancy through cfDNA sequencing results prompted the researchers to explore whether specific DNA sequencing patterns could identify women at higher risk of cancer, even in the absence of symptoms. The study involved pregnant or postpartum individuals with unusual or nonreportable cfDNA results from 12 commercial laboratories in North America.
Authors
- Jennifer S Lin (ORCID: https://orcid.org/0000-0001-9169-7410)
- Christina M. Annunziata (ORCID: https://orcid.org/0000-0003-2033-6532)
- Ian S. Goldlust (ORCID: https://orcid.org/0009-0003-2803-7219)
- PS Rajagopal
- Bernadette Redd (ORCID: https://orcid.org/0000-0001-9058-9485)
- Ashkan A. Malayeri (ORCID: https://orcid.org/0000-0002-4442-7343)
- Miroslava Pavelova (ORCID: https://orcid.org/0000-0001-5664-1067)
- D. W. Bianchi
- AE Turriff
Institutions
- National Human Genome Research Institute (US)
Publication Details
- Journal
- Obstetric Anesthesia Digest
- Published
- 2025-05-24
- DOI
- https://doi.org/10.1097/01.aoa.0001113140.18270.69
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00