Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism
| Autor: | Holli M. Drendel, April L. Hall, Jennifer Verbrugge, Katherine L. Schumacher, Mary Pell Abernathy, David D. Weaver, Christian Litton, Christopher B. Griffith, Angela Reese, Gail H. Vance |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Amniotic fluid Trisomy 13 Syndrome Placenta Karyotype Chorionic villus sampling Prenatal diagnosis Chromosome Disorders Trisomy Biology Andrology Fetus Pregnancy Prenatal Diagnosis medicine Humans Genetic Testing Confined placental mosaicism Genetics (clinical) In Situ Hybridization Fluorescence medicine.diagnostic_test Chromosomes Human Pair 13 Mosaicism Infant Newborn medicine.disease Amniotic Fluid Molecular biology Trophoblasts Pregnancy Trimester First medicine.anatomical_structure Cell-free fetal DNA Chorionic Villi Sampling embryonic structures Amniocentesis Chorionic villi Female Chorionic Villi |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics. 15(9) |
| ISSN: | 1530-0366 |
| Popis: | 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. 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. 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. 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. Genet Med 15 9, 729–732. |
| Databáze: | OpenAIRE |
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