Characteristic

Value

No. of patients

15.841

Mean maternal age (range) year

31(18-48)

Mean gestational age at sample collection (range) wk

12.5(10.0-14.3)

Race or ethnic group no

White
Black
Asian
Native American
Multiracial
Other
Missing data

11.235 (70.9)
1.295 (82)
1.659 (10.5)
93 (0.6)
422 (2.7)
1.060 (6.7)
77 (0.5)

Hispanic ethinc group no

Hispanic
Non-Hispanic

3.202 (20.2)
12.639 (79.8)

Median maternal weight (range) -- kg

65.8 (31.8-172.4)

Pregnancy trough assisted reproductive technology (no)

480 (3.0)

Current smoker (no)

432 (2.7)

Insulin dependent diabetes (no)

188 (1.2)

Genetic testing (no/total no)

Any
Chorionic villus sampling
Amniocentesis
Products of conception
Newborn

625/15.841 (3.9)
135/625 (21.6)
422/625 (67.5)
16/625 (2.6)
52/625 (8.3)

Pregnancy outcome (no)

Live birth
Termination
Still birth
Miscarriage
Unknown

15.715 (99.2)
62 (0.4)
17 (0.1)
24 (0.2)
23 (0.1)

TEST PERFOMANCE FOR TRISOMY

21
CF-DNA
Variable

Standart
Screning

CF-DNA all
patients

True positive (no)

30

True negative (no)

maternal age <

35 yr

CF-DNA low risk

13

19

14.949

15.794

11.969

14.941

False positive (no)

854

False negative (no)

Sensitivity -- %

78.9 (62.7-90.4)

100 (90.7-100)

100 (82.4-100)

100 (63.1-100)

Specificity (%)

94.6 (94.2-94.9)

99.9 (99.9-100)

99.9 (99.9-100)

99.9 (99.9-100)

Positive Predictive
Value (%)

3.4 (2.3-4.8)

80.9 (66.7-80.9)

76.0 (54.9-90.6)

50.0 (24.7-75.3)

Negative Predictive
Value (%)

99.9 (99.9-100)

100 (99.9-100)

100 (99.9-100)

100 (99.9-100)

Positive likelihood
ratio

14.6

1755.9

1995.8

1868.6

Negative likelihood
ratio

0.22

Metric

TEST PERFOMANCE FOR TRISOMY

18 & 13
Trisomy 18 -- SS

Trisomy 18 -CFDNA

Trisomy 13 -- SS

Trisomy 13
CFDNA

True positive no

19

True negative no

15.782

15.830

11.155

11.181

False positive no

49

28

False negative no

Sensitivity no

80.0 (44.4-97.5)

90.0 (55.5-99.7)

50.0 (1.2-98.7)

100 (15.8-100)

Specificity no

99.7 (99.6-99.8)

100 (99.9-100)

99.7 (99.6-99.8)

100 (99.9-100)

Positive predictive
value -- %

14.0 (6.2-25.8)

90.0 (55.5-99.7)

3.4 (0.1-17.8)

50.0 (6.8-93.2)

100 (99.9-100)

100 (99.9-100)

100 (99.9-100)

Negative predictive 100 (99.9-100)

value -- %