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Table 2 Performance of cfDNA testing with or without enrichment for detecting fetal chromosomal aneuploidy in early pregnancy loss

From: A fetal fraction enrichment method reduces false negatives and increases test success rate of fetal chromosome aneuploidy detection in early pregnancy loss

 

SNP array result

cfDNA testing without enrichment

cfDNA testing with enrichment

FF (%)

Z-score

FF (%)

Z-score

Case1

47, XY, + 21

23.6

19.0

59.0

28.5

Case2

47, XY, + 21

19.4

12.9

56.3

25.7

Case3

47, XY, + 22

9.7

6.2

34

15.8

Case4

47, XY, + 18

4.2

5

18.6

9.1

Case5

47, XX, + 8

11.3

2.7

28.3

8.2

Case6

47, XY, + 22

2.8

2.3

17.5

7.5

Case7

45, XO

5.1

− 2.9

21

− 7.5

Case8

47, XY, + 13

10

8.4

30.1

15.3