title: Double Aneuploidy Detected by Cell-Free DNA Testing and Confirmed by Fetal Tissue Analysis.
abstract: BACKGROUND
  Double aneuploidies account for 0.21-2.8% of spontaneous abortions resulting from chromosomal abnormalities. Rarely, cell-free DNA testing detects multiple aneuploidies; however, to discern among maternal, placental, and fetal origin, further evaluation is required.
  
  
  METHODS
  A 49-year-old woman, gravida 5 para 0, underwent cell-free DNA testing at 11 4/7 weeks of gestation, which revealed a fetus that was high risk for trisomies 18 and 21. On ultrasonography at 14 weeks of gestation, she was diagnosed with a missed abortion and underwent surgical management. Fetal and placental tissues were sent for analysis and were positive for trisomies 18 and 21, confirming the results of cell-free DNA testing.
  
  
  CONCLUSIONS
  Our case highlights the ability of cell-free DNA testing to recognize a double aneuploidy confirmed by fetal tissue analysis.
authors.affiliation: Department of Obstetrics and Gynecology, Walter Reed National Military Medical Center, Bethesda, Maryland.
authors.forename: Charlene G
authors.initials: CG
authors.lastname: Echague
authors.forename: Scott M
authors.initials: SM
authors.lastname: Petersen
mesh_terms: D000782:Aneuploidy; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D004247:DNA / Q000097:blood*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008875:Middle Aged; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA