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Table 1 Noninvasive prenatal testing of thalassemia

From: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping

Family

Gene

FF (%)

No. of maternal informative SNPs

No. of paternal informative SNPs

Mat

Hap

Pat

Hap

\( {\mathbf{\mathsf{CS}}}_{\mathbf{\mathsf{mat}}} \) (%)

\( {\mathbf{\mathsf{CS}}}_{\mathbf{\mathsf{pat}}} \) (%)

NIPT (Mat/Pat)

Invasive prenatal diagnosis (Mat/Pat)

   

For Mp

For Mn

For Pp

For Pn

      

52 fetuses received both allele genotypes

 F01

HBB

11.5

70

0

54

0

Mp

Pp

100

100

c.52A>T/c.126_129delCTTT

c.52A>T/c.126_129delCTTT

 F02

HBB

9.4

0

99

0

35

Mn

Pn

100

100

N/N

N/N

 F03

HBB

16.0

0

45

28

13

Mn

Pn

100

100

N/N

N/N

 F04

HBB

12.4

40

0

57

0

Mp

Pp

100

100

c.126_129delCTTT/c.126_129delCTTT

c.126_129delCTTT/c.126_129delCTTT

 F05

HBB

10.2

0

66

53

0

Mn

Pp

100

100

N/c.126_129delCTTT

N/c.126_129delCTTT

 F06

HBB

15.9

36

0

0

92

Mp

Pn

100

100

c.126_129delCTTT/N

c.126_129delCTTT/N

 F07

HBB

12.8

0

110

19

0

Mn

Pp

100

100

N/c.126_129delCTTT

N/c.126_129delCTTT

 F08

HBB

21.8

43

31

33

40

Mp

Pn

100

100

c.126_129delCTTT/N

c.126_129delCTTT/N

 F09

HBB

15.4

12

0

0

64

Mp

Pn

100

100

c.126_129delCTTT/N

c.126_129delCTTT/N

 F10

HBB

17.6

26

3

0

25

Mp

Pn

100

100

c.126_129delCTTT/N

c.126_129delCTTT/N

 F11

HBB

15.5

0

28

23

47

Mn

Pn

100

100

N/N

N/N

 F12

HBB

7.0

0

105

0

21

Mn

Pn

100

100

N/N

N/N

 F13

HBB

10.2

0

161

16

0

Mn

Pp

100

100

N/c.126_129delCTTT

N/c.126_129delCTTT

 F14

HBB

15.1

60

0

70

0

Mp

Pp

100

100

c.126_129delCTTT/c.-78A>G

c.126_129delCTTT/c.-78A>G

 F15

HBB

16.0

167

8

0

25

Mp

Pn

100

100

c.316-197C>T/N

c.316-197C>T/N

 F16

HBB

6.0

85

0

0

51

Mp

Pn

100

100

c.316-197C>T/N

c.316-197C>T/N

 F17

HBB

22.0

96

0

11

31

Mp

Pn

100

100

c.316-197C>T/N

c.316-197C>T/N

 F18

HBB

15.5

72

0

3

42

Mp

Pn

100

100

c.-78A>G/N

c.-78A>G/N

 F19

HBB

16.0

8

102

0

37

Mn

Pn

100

100

N/N

N/N

 F20

HBB

13.5

0

59

0

4

Mn

Pn

100

100

N/N

N/N

 F21

HBB

14.7

0

67

0

66

Mn

Pn

100

100

N/N

N/N

 F22

HBB

14.5

38

0

39

0

Mp

Pp

100

100

c.52A>T/c.126_129delCTTT

c.52A>T/c.126_129delCTTT

 F24

HBB

11.7

0

34

0

32

Mn

Pn

100

100

N/N

N/N

 F25

HBB

13.1

0

40

0

61

Mn

Pn

100

100

N/N

N/N

 F26

HBB

16.3

85

0

28

0

Mp

Pp

100

100

c.126_129delCTTT/c.-78A>G

c.126_129delCTTT/c.-78A>G

 F27

HBA

16.0

21

0

25

0

Mp

Pp

100

100

- -SEA/- -SEA

- -SEA/- -SEA

 F28

HBA

7.0

51

0

21

0

Mp

Pp

100

100

- -SEA/ααWS

- -SEA/ααWS

 F29

HBA

16.6

50

0

13

0

Mp

Pp

100

100

- -SEA/- -SEA

- -SEA/- -SEA

 F30

HBA

14.5

0

64

0

34

Mn

Pn

100

100

N/N

N/N

 F31

HBA

10.5

52

0

9

0

Mp

Pp

100

100

- -SEA/- -SEA

- -SEA/- -SEA

 F32

HBA

16.1

0

38

39

0

Mn

Pp

100

100

N/- -SEA

N/- -SEA

 F33

HBA

18.4

33

0

0

62

Mp

Pn

100

100

- -SEA/N

- -SEA/N

 F34

HBA

16.5

0

20

13

0

Mn

Pp

100

100

N/- -SEA

N/- -SEA

 F35

HBA

14.3

47

0

0

28

Mp

Pn

100

100

- -SEA/N

- -SEA/N

 F36

HBA

20.6

49

0

0

17

Mp

Pn

100

100

- -SEA/N

- -SEA/N

 F37

HBA

20.6

8

0

11

0

Mp

Pp

100

100

- -SEA/- -SEA

- -SEA/- -SEA

 F38

HBA

15.3

0

51

0

9

Mn

Pn

100

100

N/N

N/N

 F39

HBA

23.9

0

36

0

25

Mn

Pn

100

100

N/N

N/N

 F40

HBA

18.3

47

0

0

7

Mp

Pn

100

100

- -SEA/N

- -SEA/N

 F41

HBA

12.3

0

43

0

34

Mn

Pn

100

100

N/N

N/N

 F42

HBA

17.3

0

33

31

0

Mn

Pp

100

100

N/- -SEA

N/- -SEA

 F43

HBA

8.8

59

0

0

13

Mp

Pn

100

100

- -SEA/N

- -SEA/N

 F44

HBA

26.1

31

0

42

0

Mp

Pp

100

100

- -SEA/- -SEA

- -SEA/- -SEA

 F45

HBA

24.4

0

80

17

0

Mn

Pp

100

100

N/- -SEA

N/- -SEA

 F46

HBA

22.4

29

0

0

19

Mp

Pn

100

100

- -SEA/N

- -SEA/N

 F47

HBA

15.5

35

0

0

5

Mp

Pn

100

100

- -SEA/N

- -SEA/N

 F48

HBA

11.8

0

32

0

54

Mn

Pn

100

100

N/N

N/N

 F50

HBA

16.2

49

0

4

0

Mp

Pp

100

100

- -SEA/- -SEA

- -SEA/- -SEA

 F51

HBA

13.7

40

0

0

35

Mp

Pn

100

100

- -SEA/N

- -SEA/N

 F52

HBA

10.7

0

42

27

0

Mn

Pp

100

100

N/ααCS

N/ααCS

 F54

HBA

12.8

0

44

42

0

Mn

Pp

100

100

N/- -SEA

N/- -SEA

 F56

HBA

18.0

0

21

0

8

Mn

Pn

100

100

N/N

N/N

7 fetuses received only one allele genotype

 F23

HBB

14.0

8

0

2

0

Mp

NC [*]

99

98

c.316-197C>T/NC

c.316-197C>T/c.316-197C>T

 F49

HBA

13.6

0

1

3

0

NC [*]

Pp

83

100

NC/- -SEA

- -SEA/- -SEA

 F53

HBA

21.9

0

1

0

35

NC [*]

Pn

89

100

NC/N

N/N

 F55

HBA

9.0

33

0

0

1

Mp [**]

NC [*]

100

79

- -SEA/NC

N/ααCS

 F57

HBA

21.4

37

0

0

0

Mp

NC [*]

100

0

- -SEA/NC

- -SEA/N

 F58

HBA

22.9

61

0

0

0

Mp

NC [*]

100

0

- -SEA/NC

- -SEA/- -SEA

 F59

HBA

14.4

13

0

1

0

Mp

NC [*]

100

93

- -SEA/NC

- -SEA/- -SEA

  1. Abbreviations: FF, fetal fraction; No., number; NIPT, noninvasive prenatal testing; N, normal allele; NC, no-call; Hb CS, HBA2 c.427T>C; Hb Westmead (WS), HBA2:c.369C>G; Mat Hap, fetal inheritance from maternal haplotype; Pat Hap, fetal inheritance from paternal haplotype; \( {\mathit{\mathsf{CS}}}_{\mathit{\mathsf{mat}}} \), confidence score for fetal inheritance from maternal haplotype; \( {\mathit{\mathsf{CS}}}_{\mathit{\mathsf{pat}}} \), confidence score for fetal inheritance from paternal haplotype; Mp, maternal pathogenic haplotype, Pp, paternal pathogenic haplotype; Mn, maternal normal haplotype; Pn, paternal normal haplotype; SNPs for Mp/Pp, the number of informative SNPs that supported fetal inheritance from parental pathogenic haplotypes; SNPs for Mn/Pn; the number of informative SNPs that supported fetal inheritance from parental normal haplotypes
  2. *No-call: confidence score less than 0.99. **The NIPT result of maternal inheritance for F55 was inconsistent with the invasive prenatal diagnosis result