Table 14:

Accuracy of Prenatal Screening Tests, Reference Case

	Mean; Distribution (Parameter 1; Parameter 2)
Screening Option	Detection Rate	False-Positive Rate	Sources
NIPT
Trisomy 21	98.5%; beta (197; 3) in first-tier and second-tier NIPT	2%; beta (160; 7,840)a	BORN data
Trisomy 18	93.1%; beta (27; 2) in first-tier NIPT	NA	Clinical evidence review
	98.2%; beta (110; 2) in second-tier NIPT	NA	Badeau et al, 201767
Trisomy 13	75%; beta (9; 3) in first-tier NIPT	NA	Clinical evidence review
	100%; fixed in second-tier NIPT	NA	Badeau et al, 201767
Failure rate at first and/or second blood draw	2% uniform (0.01, 0.03)	NA	Clinical evidence review
eFTS
Trisomy 21 (risk cutoff: 1/400)	91.2%; beta (125; 12)	5.0%; beta (34; 650)	Huang et al, 20152
Trisomy 18	72.9%; beta (35; 13)	Extra 0.2%b; fixed	Okun and Dougan, 2017; Huang et al 201883,103
MSS (quadruple screening)
Trisomy 21 (risk cutoff: 1/200)	65.4%; beta (39.2; 20.8)	3.5%; beta (1,038; 28,962)	BORN data
Trisomy 18	52.8%; beta (66; 59)	0.15%; beta (647, 423123)	Summers et al, 2003104

Abbreviation: BORN, Better Outcomes Registry and Network; eFTS, enhanced first-trimester screening; MSS, maternal serum screening (also known as quadruple screening); NA, not applicable; NIPT, noninvasive prenatal testing.

Note: The accuracy of traditional prenatal screening is based on multiple serum biomarker testing and may or may not include nuchal translucency ultrasound (depending on the prenatal screening option).

^aCombined false-positive rate: according to BORN data, the false-positive rate of NIPT for trisomy 21 was 1.9%. We estimated that the combined false-positive rate for trisomies 21, 18, and 13 was 2%. Note: BORN data collection is currently ongoing and data is incomplete. We addressed potential data issues by using a lower false-positive rate in the sensitivity analysis.

^bThe combined false-positive rate for trisomies 21 and 18 was the false-positive rate of trisomy 21 plus 0.2% for trisomy 18.