A cost-effectiveness analysis of first trimester non-invasive prenatal screening for fetal trisomies in the United States

PLoS ONE

Volumn 10, Issue 7, 2015, Pages

  Walker, Brandon S ^a   Nelson, Richard E ^b   Jackson, Brian R ^a   Grenache, David G ^a   Ashwood, Edward R ^a   Schmidt, Robert L ^a  

^a ARUP LABORATORIES   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; FEMALE; FIRST TRIMESTER PREGNANCY; GOVERNMENT; HEALTH CARE POLICY; HUMAN; MATERNAL SERUM SCREENING TEST; NON INVASIVE PROCEDURE; NONINVASIVE PRENATAL TESTING; PRENATAL SCREENING; PREVALENCE; PROBABILITY SAMPLE; RISK FACTOR; SENSITIVITY ANALYSIS; TRISOMY; TRISOMY 13; TRISOMY 18; TRISOMY 21; UNITED STATES; COST BENEFIT ANALYSIS; DECISION TREE; ECONOMICS; HEALTH CARE COST; PREGNANCY; PRENATAL DIAGNOSIS; STATISTICS AND NUMERICAL DATA;

COST-BENEFIT ANALYSIS; DECISION TREES; FEMALE; HEALTH CARE COSTS; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; TRISOMY; UNITED STATES;

EID: 84940023455     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0131402     Document Type: Article

References (71)

1. Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH (2014) Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 35: 156-173. PMID: 24513694
2. Non-Invasive Prenatal Testing (NIPT). this is my: Health Screening & Ultrasound Centres.
3. Agarwal A, Sayres LC, Cho MK, Cook-Deegan R, Chandrasekharan S (2013) Commercial landscape of noninvasive prenatal testing in the United States. Prenat Diagn 33: 521-531. doi: 10.1002/pd.4101 PMID: 23686656
4. Walker BS, Jackson BR, LaGrave D, Ashwood ER, Schmidt RL (2014) A cost-effectiveness analysis of cell free DNA as a replacement for serum screening for Down syndrome. Prenat Diagn.
5. Cuckle H, Benn P, Pergament E (2013) Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis. Prenat Diagn 33: 636-642. doi: 10.1002/pd.4157 PMID: 23674341
6. Morris S, Karlsen S, Chung N, Hill M, Chitty LS (2014) Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service. PLoS One 9: e93559. doi: 10.1371/journal.pone.0093559 PMID: 24714162
7. Wald NJ, Bestwick JP (2013) Incorporating DNA sequencing into current prenatal screening practice for Down's syndrome. PLoS One 8: e58732. doi: 10.1371/journal.pone.0058732 PMID: 23527014
8. Garfield SS, Armstrong SO (2012) Clinical and cost consequences of incorporating a novel non-invasive prenatal test into the diagnostic pathway for fetal trisomies. Journal of Managed Care Medicine 15: 32-39.
9. Song K, Musci TJ, Caughey AB (2013) 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 26: 1180-1185. doi: 10.3109/14767058.2013.770464 PMID: 23356557
10. O'Leary P, Maxwell S, Murch A, Hendrie D (2013) Prenatal screening for Down syndrome in Australia: costs and benefits of current and novel screening strategies. Aust N Z J Obstet Gynaecol 53: 425-433. doi: 10.1111/ajo.12136 PMID: 24090461
11. Beulen L, Grutters JP, Faas BH, Feenstra I, van Vugt JM, et al. (2014) The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis. Eur J Obstet Gynecol Reprod Biol 182: 53-61. doi: 10.1016/j.ejogrb.2014.08.028 PMID: 25238658
12. Drummond M, Sculpher M, Torrance G, O'Brien B, Stoddart G (2005) Methods for the Economic Evaluation of Health Care Programmes: Oxford University Press, Incorporated.
13. Gold M, Siegel J, Russell L, Weinstein M (1996) Cost-Effectiveness in Health and Medicine. USA: Oxford University Press.
14. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, et al. (2003) First and second trimester antenatal screening for Down's syndrome: The results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 10: 56-104. PMID: 14746340
15. Wald N, Rodeck C, Rudnicka A, Hackshaw A (2004) Nuchal translucency and gestational age. Prenatal Diagnosis 24: 150-151. PMID: 14974125
16. Bestwick JP, Huttly WJ, Wald NJ (2013) Detection of trisomy 18 and trisomy 13 using first and second trimester Down's syndrome screening markers. J Med Screen 20: 57-65. doi: 10.1177/0969141313484904 PMID: 23761419
17. (2011) Stata Statistical Software: Release 12. College Station, TX, USA: StataCorp.
18. Wald N, Leck I (2000) Antenatal and Neonatal Screening USA: Oxford University Press.
19. Savva GM, Walker K, Morris JK (2010) The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome). Prenat Diagn 30: 57-64. doi: 10.1002/pd.2403 PMID: 19911411
20. Morris JK, Mutton DE, Alberman E (2002) Revised estimates of the maternal age specific live birth prevalence of Down's syndrome. J Med Screen 9: 2-6. PMID: 11943789
21. Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, et al. (2011) Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 342: c7401. doi: 10.1136/bmj.c7401 PMID: 21224326
22. Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH (2012) Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 206: 322 e321-325. doi: 10.1016/j.ajog.2012.01.029 PMID: 22464073
23. Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G (2012) Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 207: 374 e371-376. doi: 10.1016/j.ajog.2012.08.033 PMID: 23107079
24. Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH (2013) Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound in Obstetrics and Gynecology 42: 34-40. doi: 10.1002/uog.12504 PMID: 23744609
25. Briggs AH, Claxton K, Sculpher MJ (2006) Decision Modelling for Health Economic Evaluation: Oxford University Press.
26. (2012) Centers for Disease Control and Prevention. National Center for Health Statistics. VitalStats.
27. (2012) TreeAge Pro 2012. TreeAge Software Inc.
28. Jones RK, Kooistra K (2011) Abortion incidence and access to services in the United States, 2008. Perspect Sex Reprod Health 43: 41-50. doi: 10.1363/4304111 PMID: 21388504
29. Waitzman NJ, Scheffler RM, Romano PS (1996) The cost of birth defects: estimates of the value of prevention: University Press of America.
30. Kucik JE, Shin M, Siffel C, Marengo L, Correa A (2013) Trends in survival among children with Down syndrome in 10 regions of the United States. Pediatrics 131: e27-36. doi: 10.1542/peds.2012-1616 PMID: 23248222
31. Day SM, Strauss DJ, Shavelle RM, Reynolds RJ (2005) Mortality and causes of death in persons with Down syndrome in California. Dev Med Child Neurol 47: 171-176. PMID: 15739721
32. Vendola C, Canfield M, Daiger SP, Gambello M, Hashmi SS, et al. (2010) Survival of Texas infants born with trisomies 21, 18, and 13. Am J Med Genet A 152a: 360-366. doi: 10.1002/ajmg.a.33156 PMID: 20082470
33. Niedrist D, Riegel M, Achermann J, Schinzel A (2006) Survival with trisomy 18 - data from Switzerland. Am J Med Genet A 140: 952-959. PMID: 16528741
34. Personal Consumption Expenditures Index. Bureau of Ecomonic Analysis.
35. Employment Cost Index. Bureau of Labor Statistics.
36. CMS.gov Centers for Medicare & Medicaid Services.
37. Langreth R, Pettypiece S (June 14, 2013) Myriad Gene Patent Ruling Triggers Race for Cancer Tests. Bloomberg.
38. Ohno M, Caughey A (2013) The role of noninvasive prenatal testing as a diagnostic versus a screening tool - a cost-effectiveness analysis. Prenatal Diagnosis 33: 630-635. doi: 10.1002/pd.4156 PMID: 23674316
39. Palomaki GE, Knight GJ, Ashwood ER, Best RG, Haddow JE (2013) Screening for down syndrome in the United States: results of surveys in 2011 and 2012. Arch Pathol Lab Med 137: 921-926. doi: 10.5858/arpa.2012-0319-CP PMID: 23808464
40. Lewis C, Hill M, Silcock C, Daley R, Chitty LS (2014) Non-invasive prenatal testing for trisomy 21: a cross-sectional survey of service users' views and likely uptake. Bjog 121: 582-594. doi: 10.1111/1471-0528.12579 PMID: 24433394
41. Platt LD, Greene N, Johnson A, Zachary J, Thom E, et al. (2004) Sequential pathways of testing after first-trimester screening for trisomy 21. Obstet Gynecol 104: 661-666. PMID: 15458882
42. Cunningham GC, Tompkinison DG (1999) Cost and effectiveness of the California triple marker prenatal screening program. Genet Med 1: 199-206. PMID: 11256673
43. Priest JH, FitzGerald JM, Haag MM, Streets K, Vanisko M, et al. (1998) Acceptance of amniocentesis by women in the state of Montana (USA) who are screen positive for Down's syndrome. J Med Screen 5: 178-182. PMID: 9934647
44. de la Vega A, Verdiales M, Leavitt G (2002) Method of risk assessment affects acceptance rate of amniocentesis. P R Health Sci J 21: 233-235. PMID: 12243114
45. Baker D, Teklehaimanot S, Hassan R, Guze C (2004) A look at a Hispanic and African American population in an urban prenatal diagnostic center: referral reasons, amniocentesis acceptance, and abnormalities detected. Genet Med 6: 211-218. PMID: 15266209
46. Currier R, Wu N, Van Meter K, Goldman S, Lorey F, et al. (2012) Integrated and first trimester prenatal screening in California: program implementation and patient choice for follow-up services. Prenat Diagn 32: 1077-1083. doi: 10.1002/pd.3961 PMID: 22903386
47. Kazerouni NN, Currier B, Malm L, Riggle S, Hodgkinson C, et al. (2009) Triple-marker prenatal screening program for chromosomal defects. Obstet Gynecol 114: 50-58. doi: 10.1097/AOG.0b013e3181a9479e PMID: 19546758
48. Won RH, Currier RJ, Lorey F, Towner DR (2005) The timing of demise in fetuses with trisomy 21 and trisomy18. Prenat Diagn 25: 608-611. PMID: 16032775
49. Bishop J, Huether CA, Torfs C, Lorey F, Deddens J (1997) Epidemiologic study of Down syndrome in a racially diverse California population, 1989-1991. Am J Epidemiol 145: 134-147. PMID: 9006310
50. Forrester MB, Merz RD (2002) Pregnancy outcome distribution and prenatal diagnosis of autosomal abnormalities, Hawaii, 1986-1999. Teratology 66 Suppl 1: S7-11. PMID: 12239737
51. Knight GJ, Palomaki GE, Neveux LM, Smith DE, Kloza EM, et al. (2005) Integrated serum screening for Down syndrome in primary obstetric practice. Prenat Diagn 25: 1162-1167. PMID: 16231402
52. Shaffer BL, Caughey AB, Norton ME (2006) Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenat Diagn 26: 667-671. PMID: 16724363
53. Benn PA (1998) Preliminary evidence for associations between second-trimester human chorionic gonadotropin and unconjugated oestriol levels with pregnancy outcome in Down syndrome pregnancies. Prenat Diagn 18: 319-324. PMID: 9602476
54. Wray AM, Landy HJ, Meck JM (2007) Patient decisions regarding prenatal aneuploid fluorescence in situ hybridization results. Int J Gynaecol Obstet 96: 103-107. PMID: 17239384
55. Caruso TM, Westgate MN, Holmes LB (1998) Impact of prenatal screening on the birth status of fetuses with Down syndrome at an urban hospital, 1972-1994. Genet Med 1: 22-28. PMID: 11261425
56. Kramer RL, Jarve RK, Yaron Y, Johnson MP, Lampinen J, et al. (1998) Determinants of parental decisions after the prenatal diagnosis of Down syndrome. Am J Med Genet 79: 172-174. PMID: 9788556
57. Perni SC, Predanic M, Kalish RB, Chervenak FA, Chasen ST (2006) Clinical use of first-trimester aneuploidy screening in a United States population can replicate data from clinical trials. Am J Obstet Gynecol 194: 127-130. PMID: 16389021
58. Perry S, Woodall AL, Pressman EK (2007) Association of ultrasound findings with decision to continue Down syndrome pregnancies. Community Genet 10: 227-230. PMID: 17895628
59. Horger EO 3rd, Finch H, Vincent VA (2001) A single physician's experience with four thousand six hundred genetic amniocenteses. Am J Obstet Gynecol 185: 279-288. PMID: 11518880
60. Forrester MB, Merz RD (1999) Trisomies 13 and 18: prenatal diagnosis and epidemiologic studies in Hawaii, 1986-1997. Genet Test 3: 335-340. PMID: 10627940
61. Forrester MB, Merz RD (1999) Prenatal diagnosis and elective termination of Down syndrome in a racially mixed population in Hawaii, 1987-1996. Prenat Diagn 19: 136-141. PMID: 10215071
62. Morris JK, Wald NJ, Watt HC (1999) Fetal loss in Down syndrome pregnancies. Prenat Diagn 19: 142-145. PMID: 10215072
63. Morris JK, Savva GM (2008) The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A 146a: 827-832. doi: 10.1002/ajmg.a.32220 PMID: 18361449
64. Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F (2015) Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 45: 16-26. doi: 10.1002/uog.14636 PMID: 25042845
65. Wang E, Batey A, Struble C, Musci T, Song K, et al. (2013) Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenatal Diagnosis 33: 662-666. doi: 10.1002/pd.4119 PMID: 23553731
66. Hui L, Teoh M, da Silva Costa F, Ramsay P, Palma-Dias R, et al. (2015) Clinical implementation of cellfree DNA-based aneuploidy screening: perspectives from a national audit. Ultrasound Obstet Gynecol 45: 10-15. doi: 10.1002/uog.14699 PMID: 25323392
67. Comas C, Echevarria M, Rodriguez MA, Prats P, Rodriguez I, et al. (2014) Initial experience with noninvasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting. J Matern Fetal Neonatal Med: 1-6.
68. Waitzman NJ, Romano PS, Grosse SD (2005) Half-life of cost of illness estimates: the case of spina bifida. In: Wyszynski DF, editor. Neural Tube Defects: From Origin to Treatment 1ed. USA: Oxford University Press. pp. 342-351.
69. Brewer C, Holloway S, Stone D, Carothers A, FitzPatrick D (2002) Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. Journal of Medical Genetics 39: e54-e54. PMID: 12205124
70. Wu J, Springett A, Morris JK (2013) Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. Am J Med Genet A 161a: 2512-2518. doi: 10.1002/ajmg.a.36127 PMID: 23949924
71. Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM (2003) Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 111: 777-784. PMID: 12671111