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Table 4 Practical performance comparison between fetal genome recovery methods

From: Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing

Category

Current study

Kitzman et al.

Fan et al.

   

Trio I1

Trio G1

P1T1

P1T2

P2T3

Gestational week

13

18.5

8.14

9

29

39

Estimated average cff-DNA concentration

5.69%

13%a

6%a

6%a

16%a

30%a

Average sequence depth (fold)

43.91

78a,b

56a,b

52.7

20.8

10.7

Fetal gender

Male

Male

-

Female

Female

Female

Maternal allele

      

Predicted rate

100%

91.4%

-

>99.2%

Predictionaccuracy

95.37% (autosome)

98.45% (ChrX)

-

-

>99.8%

Paternal allele

    

Predicted rate

100%

-

-

71.60%

72.84%

72.94%

Prediction accuracy

98.57%

-

-

93.79%

95.84%

96.56%

Accuracy of inferred fetal genotype

      

Autosome

Paternal-only heterozygous

99.12%, n = 65,409

96.8%

60.3%

-

-

-

 

Maternal-only heterozygous

95.84%, n = 66,238

99.3%c

95.7%c

-

-

-

 

Biparentally heterozygous

94.90%, n = 41,849

98.7%d

91.3%d

-

-

-

ChrX

Maternal-only heterozygous

98.45%, n = 1,932

-

-

-

-

-

  1. - = No data
  2. aApproximate.
  3. bNon-duplicate.
  4. cEstimated based on maternal phased sites.
  5. dAccuracy of transmitted maternal allele prediction, estimated based on maternal phased sites.