Table 7 Data analysis of reexamination results of 5 NIPT missed samples.

From: Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases

Cases

Redetect method

DNA concentration (ng/μl)

Library concentration (pM)

UniMap reads (M)

Fetal%

Q30

GC%

Gender

Result

Case 1

Increase depth

0.245

395.3

17.9

11.99

94.72

40.17

Male

Low risk

Case 2

Increase depth

0.072

128.2

14.8

8.51

94.66

40.56

Male

Low risk

Case 3

Increase depth

0.097

156.54

14.2

7.06

94.61

40.33

Female

Low risk

Case 4

Original depth

0.152

140.95

4.5

20.09

94.3

40.37

Male

Low risk

Case 5

Original depth

0.156

170.09

4.2

5.93

95.38

39.42

Female

Low risk

  1. Original depth: 0.06x; Increase depth: 0.24x.
  2. Q30 refers to the percentage of bases with sequencing errors less than or equal to 1/1000.
  3. GC% GC content refers to the percentage of guanine (G) and cytosine (C) nucleotides in a DNA sequence.
  4. Fetal% fetal fraction refers to the proportion of fetal DNA in maternal plasma during pregnancy.
Back to article page