P689: Maternal mosaic unbalanced translocation detected after atypical cfDNA screen
Abstract
The unbalanced translocation was found in approximately 10% of the maternal sample, which is a very similar percentage to what would be expected for the fetal fraction for a non-mosaic unbalanced translocation. Though the 1st pregnancy did not inherit the derivative chromosome, the patient is still at risk for future pregnancies if the unbalanced translocation is present in her germline. Additionally, every pregnancy is likely to screen positive for these genetic imbalances by cfDNA. Thus, post-test counseling for this positive cfDNA result is crucial for making informed decisions about pregnancy management.
Fields of Study & Subjects
Prenatal Screening and Diagnostics
Genomic variations and chromosomal abnormalities
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104179–104179
- Publication date
- 1 January 2026
- Language
- EN