P749: Why atypical findings matter: Follow-up testing finds diagnostic results related to atypical cfDNA screening
Abstract
Prenatal cell-free DNA (cfDNA) routinely screens for trisomies 13,18, and 21, and sex chromosome abnormalities during pregnancy. Though cfDNA is designed to detect whole-chromosome aneuploidy, it has the capacity to detect other genomic abnormalities, which are often described as “atypical” when reported. Atypical results from cfDNA screens are a reality for an increasing number of pregnant patients; however, there are no specific guidelines for reporting or follow-up testing for the pregnant person or pregnancy.
Fields of Study & Subjects
Prenatal Screening and Diagnostics
Genomics and Rare Diseases
Maternal and Perinatal Health Interventions
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104241–104241
- Publication date
- 1 January 2026
- Language
- EN