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.
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.
Authors: Michael T Mennuti; Athena M Cherry; Jennifer J D Morrissette; Lorraine Dugoff Journal: Am J Obstet Gynecol Date: 2013-03-22 Impact factor: 8.661
Authors: Tze Kin Lau; Fu Man Jiang; Robert J Stevenson; Tsz Kin Lo; Lin Wai Chan; Mei Ki Chan; Pui Shan Salome Lo; Wei Wang; Hong-Yun Zhang; Fang Chen; Kwong Wai Choy Journal: Prenat Diagn Date: 2013-04-02 Impact factor: 3.050
Authors: Andrew B Sparks; Eric T Wang; Craig A Struble; Wade Barrett; Renee Stokowski; Celeste McBride; Jacob Zahn; Kevin Lee; Naiping Shen; Jigna Doshi; Michel Sun; Jill Garrison; Jay Sandler; Desiree Hollemon; Patrick Pattee; Aoy Tomita-Mitchell; Michael Mitchell; John Stuelpnagel; Ken Song; Arnold Oliphant Journal: Prenat Diagn Date: 2012-01-06 Impact factor: 3.050