Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism

April L. Hall, Holli M. Drendel, Jennifer L. Verbrugge, Angela M. Reese, Katherine L. Schumacher, Christopher B. Griffith, David Weaver, Mary P. Abernathy, Christian G. Litton, Gail Vance

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

Purpose: We report on a case in which cell-free fetal DNA was positive for trisomy 13 most likely due to confined placental mosaicism. Cell-free fetal DNA testing analyzes DNA derived from placental trophoblast cells and can lead to incorrect results that are not representative of the fetus. Methods: We sought to confirm commercial cell-free fetal DNA testing results by chorionic villus sampling and amniocentesis. These results were followed up by postnatal chromosome analysis of cord blood and placental tissue. Results: First-trimester cell-free fetal DNA test results were positive for trisomy 13. Cytogenetic analysis of chorionic villus sampling yielded a mosaic karyotype of 47,XY,+13[10]/46,XY[12]. G-banded analysis of amniotic fluid was normal, 46,XY. Postnatal cytogenetic analysis of cord blood was normal. Karyotyping of tissues from four quadrants of the placenta demonstrated mosaicism for trisomy 13 in two of the quadrants and a normal karyotype in the other two. Conclusion: Our case illustrates several important aspects of this new testing methodology: that cell-free fetal DNA may not be representative of the fetal karyotype; that follow-up with diagnostic testing of chorionic villus sampling and/or amniotic fluid for abnormal test results should be performed; and that pretest counseling regarding the full benefits, limitations, and possible testing outcomes of cell-free fetal DNA screening is important.

Original languageEnglish
Pages (from-to)729-732
Number of pages4
JournalGenetics in Medicine
Volume15
Issue number9
DOIs
StatePublished - Sep 2013

Fingerprint

Mosaicism
Chorionic Villi Sampling
DNA
Karyotype
Cytogenetic Analysis
Amniotic Fluid
Fetal Blood
Karyotyping
Amniocentesis
Trophoblasts
First Pregnancy Trimester
Trisomy 13 syndrome
Placenta
Counseling
Fetus
Chromosomes

Keywords

  • cell-free fetal DNA
  • chromosomes
  • confined placental mosaicism
  • noninvasive prenatal testing
  • trisomy 13

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Hall, A. L., Drendel, H. M., Verbrugge, J. L., Reese, A. M., Schumacher, K. L., Griffith, C. B., ... Vance, G. (2013). Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genetics in Medicine, 15(9), 729-732. https://doi.org/10.1038/gim.2013.26

Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. / Hall, April L.; Drendel, Holli M.; Verbrugge, Jennifer L.; Reese, Angela M.; Schumacher, Katherine L.; Griffith, Christopher B.; Weaver, David; Abernathy, Mary P.; Litton, Christian G.; Vance, Gail.

In: Genetics in Medicine, Vol. 15, No. 9, 09.2013, p. 729-732.

Research output: Contribution to journalArticle

Hall, AL, Drendel, HM, Verbrugge, JL, Reese, AM, Schumacher, KL, Griffith, CB, Weaver, D, Abernathy, MP, Litton, CG & Vance, G 2013, 'Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism', Genetics in Medicine, vol. 15, no. 9, pp. 729-732. https://doi.org/10.1038/gim.2013.26
Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB et al. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genetics in Medicine. 2013 Sep;15(9):729-732. https://doi.org/10.1038/gim.2013.26
Hall, April L. ; Drendel, Holli M. ; Verbrugge, Jennifer L. ; Reese, Angela M. ; Schumacher, Katherine L. ; Griffith, Christopher B. ; Weaver, David ; Abernathy, Mary P. ; Litton, Christian G. ; Vance, Gail. / Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. In: Genetics in Medicine. 2013 ; Vol. 15, No. 9. pp. 729-732.
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