title: Cell-free fetal DNA and cell-free total DNA levels in spontaneous abortion with fetal chromosomal aneuploidy.
abstract: BACKGROUND
  Cell-free fetal DNA and cell-free total DNA in maternal circulation have been proposed as potential markers for noninvasive monitoring of the placental condition during the pregnancy. However, the correlation of and change in cell-free fetal DNA and cell-free total DNA in spontaneous abortion (SA) with fetal chromosomal aneuploidy have not yet been reported. Therefore, we investigated cell-free fetal DNA and cell-free total DNA levels in SA women with fetal chromosomal aneuploidy.
  
  
  RESULTS
  A nested case-control study was conducted with maternal plasma collected from 268 women in their first trimester of pregnancy. Subjects included 41 SA with normal fetal karyotype, 26 SA with fetal chromosomal aneuploidy, and 201 normal controls. The unmethylated PDE9A gene was used to measure the maternal plasma levels of cell-free fetal DNA. The GAPDH gene was used to measure the maternal plasma levels of cell-free total DNA. The diagnostic accuracy was measured using receiver-operating characteristic (ROC) curves. Levels of cell-free fetal DNA and cell-free total DNA were significantly higher in both SA women with normal fetal karyotype and SA women with fetal chromosomal aneuploidy in comparison with the normal controls (P<0.001 in both). The correlation between cell-free fetal DNA and cell-free total DNA levels was stronger in the normal controls (r = 0.843, P<0.001) than in SA women with normal karyotype (r = 0.465, P = 0.002) and SA women with fetal chromosomal aneuploidy (r = 0.412, P = 0.037). The area under the ROC curve for cell-free fetal DNA and cell-free total DNA was 0.898 (95% CI, 0.852-0.945) and 0.939 (95% CI, 0.903-0.975), respectively.
  
  
  CONCLUSIONS
  Significantly high levels of cell-free fetal DNA and cell-free total DNA were found in SA women with fetal chromosomal aneuploidy. Our findings suggest that cell-free fetal DNA and cell-free total DNA may be useful biomarkers for the prediction of SA with fetal chromosomal aneuploidy, regardless of fetal gender.
authors: Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea.
authors: Ji Hyae
authors: JH
authors: Lim
authors: Min Hyoung
authors: MH
authors: Kim
authors: You Jung
authors: YJ
authors: Han
authors: Da Eun
authors: DE
authors: Lee
authors: So Yeon
authors: SY
authors: Park
authors: Jung Yeol
authors: JY
authors: Han
authors: Moon Young
authors: MY
authors: Kim
authors: Hyun Mee
authors: HM
authors: Ryu
mesh_terms: D000022:Abortion, Spontaneous / Q000097:blood* / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D016022:Case-Control Studies; D002474:Cell-Free System / Q000378:metabolism; D004247:DNA / Q000097:blood* / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000378:metabolism*; D006801:Humans; D009035:Mothers; D011247:Pregnancy
chemical_list: D004247:DNA