Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis

Figures & data

Table 1. Probability and cost variables.

	Base case	Range	References
Variables
T21 prevalence, 1st trimester	1 in 530	(1 in 450 to 1 in 600)	[18]
T18 prevalence, 1st trimester	1 in 1100	(1 in 900 to 1 in 1500)	[19]
T13 prevalence, 1st trimester	1 in 3500	(1 in 2500 to 1 in 5000)	[19]
FTS performance
Cumulative false-positive rate	5%	(3–7%)	[2]
Sensitivity, T21	85%	(75–90%)	[2]
Sensitivity, T18	84%	(80–90%)	[3]
Sensitivity, T13	84%	(80–90%)	[3]
% patients referred out for screening	35%	(25–50%)	Data on file
NIPT performance
Cumulative false-positive rate	0.3%	(0.1–0.5%)	[6]
Sensitivity, T21	99.0%	(98.0–99.9%)	[6]
Sensitivity, T18	96.8%	(90.0–99.9%)	[6]
Sensitivity, T13	92.1%	(85.0–95.0%)	[6]
Termination rate for T21	75%	(60–90%)	[20]
Termination rate for T18	90%	(80–95%)	[21]
Termination rate for T13	90%	(80–95%)	[21]
Procedure-related miscarriage	0.5%	(0.2–2%)	[9,22]
Costs
NIPT	$400–700	($400–$700)	n/a
1st trimester serum	$48.30	($30–$100)	see text
NT	$122.51	($100–$300)	see text
Invasive procedure	$1300	($500–$2500)	[9]
Office visit with counseling	$120	($80–$200)	[9]
T21 birth	$850 000	($600 000–$1 000 000)	[23]
T18 birth	$50 000	($30 000–$70 000)	[23]
T13 birth	$38 000	($25 000–$50 000)	[23]
Termination	$600	($400–$1000)	[9]

Figure 1. (a) Number of trisomies cases identified with FTS or NIPT by trisomy type and total. (b) Number of invasive procedures that were indicated or unnecessary due to false-positive results with FTS or NIPT.

Figure 2. NIPT unit cost analysis. The dotted area shows NIPT unit costs at which total costs are less compared to FTS. The shaded area shows NIPT unit costs at which the cost per trisomy case identified with NIPT is equivalent or lower than that of FTS, but the total overall costs are higher.

Cuckle HS, Wald NJ, Thompson SG. Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level. Br J Obs Gynaecol 1987;94:387–402

 PubMedGoogle Scholar

Snijders RJ, Sebire NJ, Souka A, et al. Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation. Ultrasound Obs Gynecol 1995;6:250–5

 PubMed Web of Science ®Google Scholar

ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obs Gynecol 2007;109:217–27

 PubMedGoogle Scholar

Kagan KO, Wright D, Valencia C, et al. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008;23:1968–75

 PubMed Web of Science ®Google Scholar

Gil MM, Akolekar R, Quezada MS, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 2014;35:156–73

 PubMed Web of Science ®Google Scholar

Natoli JL, Ackerman DL, McDermott S, Edwards JG. Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011). Prenat Diagn 2012;32:142–53

 PubMed Web of Science ®Google Scholar

Shaffer BL, Caughey AB, Norton ME. Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenat Diagn 2006;26:667–71

 PubMed Web of Science ®Google Scholar

Song K, Musci TJ, Caughey AB. Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population. J Matern Fetal Neonatal Med 2013;7058:1–6

 Google Scholar

Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obs Gynecol 2006;108:612–16

 PubMed Web of Science ®Google Scholar

Centers for Disease Control and Prevention (CDC). Economic costs of birth defects and cerebral palsy–United States, 1992. MMWR Morb Mortal Wkly Rep 1995;44:694–9

 PubMedGoogle Scholar