Table 2 Performance of reflex DNA screening using a 1 in 800 combined test risk cutoff to select women for a DNA test compared with women only receiving the combined test using a 1 in 150 risk cutoff

From: Prenatal reflex DNA screening for trisomies 21, 18, and 13

Screening method

 

Affected

Unaffected a

 

Trisomy

Positive/total

DR (95% CI)

Positive/total

FPR (95% CI)

OAPR

Reflex DNA screening

21

69/73

95% (87–98%)

4/22,706

0.02% (0.00–0.05%)

17:1

 

18

24/25

96% (80–100%)

0/22,706

0.00% (0.00–0.02%)

>24:1

 

13

8/8

100% (63–100%)

0/22,706

0.00% (0.00–0.02%)

>8:1

 

All

101/106

95% (89–98%)

4/22,706

0.02% (0.00–0.05%)

25:1

Combined test only

21

59/73

81% (70–89%)

532/22,706

2.34% (2.15–2.55%)

1:9

 

18

20/25

80% (59–93%)

10/22,706

0.05% (0.02–0.08%)

1:2

 

13

6/8

75% (35–97%)

55/22,706

0.24% (0.18–0.32%)

1:9

 

All

86/106

81% (72–88%)

549/22,706

2.42% (2.22–2.62%)

1:6

  1. CI, confidence interval; DR, detection rate; FPR, false-positive rate; OAPR, odds of being affected given a positive result.
  2. aUnaffected with any of trisomy 21, 18, or 13.