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Table 2 Clinical details of the 6 cases with fetal trisomies (FTS: first trimester screening)

From: Non-invasive prenatal test to screen common trisomies in twin pregnancies

 

Results of screening tests

Maternal age (years)

Gestational age

Conception

Nuchal translucency

Fetal fraction (%)

Maternal weight (Kg)

NIPT Result

Karyotyping

Case 1

T21 (QUAD test): 1/723 & 1/89

35

16w + 2d

Spontaneous

1.04 mm & 2.2 mm

9

63

T21 High Risk

47,XX,+ 21, 47,XX,+ 21

Case 2

T21 (FTS): 1/2049 & 1/576

45

15w + 1d

Spontaneous

2.3 mm & 2.1 mm

8

61

T13 High Risk

47,XX,+ 13, 46,XX

Case 3

T21 (Sequential): 1/1423 & 1/611

T21 (FTS): 1/6300 & 1/2021

32

12w + 6d

IVF-ICSI

1.2 mm & 1.9 mm

5

73

T18 High Risk

47,XX,+ 18, 46,XX

Case 4

T21 (FTS): 1/78 & 1/125

T13 (FTS): 1/330 & 1/723

32

13w + 2d

Spontaneous

3.01 mm & 2.8 mm

7

65

T21 High Risk

47,XX,+ 21, 46,XX

Case 5

T21 (FTS): 1/1821 & 1/897

T18 (FTS): 1/898 & 1/1002

41

12w + 2d

IVF-ICSI

1.3 mm & 1.5 mm

4

77

Low risk

47,XX,+ 18, 46,XX

Case 6

T21 (FTS): 1/969 & 1/103

36

21w + 3d

Spontaneous

1.7 mm & 2.5 mm

10

52

T21 High Risk

Unknown