AI Article Synopsis
- The study investigated a disagreement between a positive cell-free fetal DNA test for trisomy 13 and a standard cytogenetic diagnosis.
- Cell-free fetal DNA testing was done using advanced sequencing, and conventional cytogenetic analysis confirmed the results with additional FISH testing on placental tissues.
- Results indicated a positive DNA test for trisomy 13, but normal amniotic fluid and placental mosaicism suggest that DNA test results may not accurately represent the fetal genetic status, highlighting the need for further cytogenetic analysis in such cases.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016375 | PMC |
| http://dx.doi.org/10.1007/s10815-014-0182-7 | DOI Listing |
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