Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism
Author(s) -
April Hall,
Holli M. Drendel,
Jennifer Verbrugge,
Angela Reese,
Katherine L. Schumacher,
Christopher B. Griffith,
David D. Weaver,
Mary Pell Abernathy,
Christian Litton,
Gail H. Vance
Publication year - 2013
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2013.26
Subject(s) - chorionic villus sampling , cell free fetal dna , amniocentesis , trisomy , fetus , karyotype , chorionic villi , amniotic fluid , aneuploidy , prenatal diagnosis , biology , obstetrics , andrology , medicine , chromosome , pregnancy , genetics , gene
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.
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