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Table 1 The efficacy of indications in detecting chromosomal abnormality

From: Cell-free fetal DNA testing and its correlation with prenatal indications

Clinical indications

Characteristic

Population with high risk

T21

T18

T13

SCAs

Total(%)

Maternal age (years)

GA at NIPT (wks)

P (TP)

PPV

P (TP)

PPV

P (TP)

PPV

P (TP)

PPV

P (TP)

PPV

AMA (≥35 years)

3295 (23.02)

37.39 ± 2.37

16.54 ± 2.58

63 (38)

60.32%

23 (21)

91.30%

8 (6)

75.00%

6 (2)

33.3%

15 (9)

60.00%

aMSS

7608 (53.14)

28.06 ± 3.52

17.40 ± 2.83

24 (11)

45.83%

5 (5)

100.00%

2 (1)

50.00%

1 (0)

0.00%

8 (5)

62.50%

abnormally thickened NT

120 (0.84)

27.58 ± 3.54

15.32 ± 2.17

5 (3)

60.00%

1 (1)

100.00%

2 (2)

100.00%

0 (0)

NA

1 (0)

0.00%

aUS

112 (0.78)

27.69 ± 3.22

22.69 ± 3.04

3 (1)

33.33%

0 (0)

NA

0 (0)

NA

0 (0)

NA

2 (1)

50.00%

Twin /IVF-ET pregnancy

429 (3.00)

28.81 ± 3.27

15.26 ± 2.05

6 (5)

83.33%

3 (3)

100.00%

0 (0)

NA

0 (0)

NA

3 (2)

66.67%

Miss other screening opportunities

5 (0.03)

25.80 ± 2.99

25.40 ± 0.49

0 (0)

0.00%

0 (0)

NA

0 (0)

NA

0 (0)

NA

0 (0)

NA

Voluntary Testing

2524 (17.63)

27.59 ± 3.68

16.03 ± 2.23

88 (42)

47.73%

17 (15)

88.24%

4 (2)

50.00%

9 (4)

44.44%

34 (21)

61.76%

Interventional surgery contraindication

14 (0.10)

27.64 ± 2.12

16.29 ± 1.39

0 (0)

0.00%

0 (0)

NA

0 (0)

NA

0 (0)

NA

0 (0)

NA

Other risk factors

209 (1.46)

28.44 ± 3.41

15.35 ± 2.35

0 (0)

0.00%

0 (0)

NA

0 (0)

NA

0 (0)

NA

0 (0)

NA

Total

14,316

  

189 (100)

59.79%

49 (45)

91.84%

16 (11)

68.75%

16 (6)

37.5%

63 (38)

60.32%

  1. Data are given as mean (range) or n (%)
  2. Others – all other combinations except the indications in the table; abnormal ultrasound findings (aUS), abnormal maternal serum screening (aMSS, high risk: T21 ≥ 1/270, T18 ≥ 1/350; T13 ≥ 1/100 and intermediate risk: 1/1000 ≤ T21 < 1/270; 1/1000 ≤ T18 < 1/350; 1/1000 ≤ T13 < 1/100), nuchal translucency (NT) (increase extent > 95), advance maternal age (AMA); interventional surgery contraindication includes infection and coagulopathy; Other risk factors group include the pregnant women with other inherited disease, chromosomal polymorphism, drugs use history during pregnancy, medical history. or mental abnormality, et al
  3. P Positive, the NIPT(+), TP True positive, both NIPT(+) and interventional prenatal diagnosis (+), PPV positive predictive value, Down syndrome, GA gestational age, NA not applicable, wks weeks