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- Title
Placental mosaicism for Trisomy 13: a challenge in providing the cell-free fetal DNA testing.
- Authors
Liu, Xiang-Yin; Zhang, Hong-Guo; Wang, Rui-Xue; Chen, Shuang; Yu, Xiao-Wei; Liu, Rui-Zhi
- Abstract
Purpose: We investigated the disagreement between the positive cell-free fetal DNA test for trisomy 13 and the standard cytogenetic diagnosis of one case. Methods: Cell-free fetal DNA testing was performed by massively parallel sequencing. We used conventional cytogenetic analysis to confirm the commercial cell-free fetal DNA testing. Additionally, postnatal fluorescent in situ hybridization (FISH) testing was performed on placental tissues. Results: The cell-free fetal DNA testing result was positive for trisomy 13. G-banded analysis of amniotic fluid was normal, 46, XY. FISH testing of tissues from four quadrants of the placenta demonstrated mosaicism for trisomy 13. Conclusions: A positive cell-free fetal DNA testing result may not be representative of the fetal karyotype because of placental mosaicism. Cytogenetic analysis should be performed when abnormal cell-free fetal DNA test results are obtained.
- Subjects
MOSAICISM; TRISOMY; DNA; FLUORESCENCE in situ hybridization; KARYOTYPES; CYTOGENETICS; AMNIOTIC liquid
- Publication
Journal of Assisted Reproduction & Genetics, 2014, Vol 31, Issue 5, p589
- ISSN
1058-0468
- Publication type
Report
- DOI
10.1007/s10815-014-0182-7