First- and second-trimester evaluation of risk for Down syndrome

Robert H. Ball, Aaron Caughey, Fergal D. Malone, David A. Nyberg, Christine H. Comstock, George R. Saade, Richard L. Berkowitz, Susan J. Gross, Lorraine Dugoff, Sabrina D. Craigo, Ilan E. Timor-Tritsch, Stephen R. Carr, Honor M. Wolfe, Danielle Emig, Mary E. D'Alton

Research output: Contribution to journalArticle

72 Citations (Scopus)

Abstract

OBJECTIVE: To investigate the differences in costs and outcomes of Down syndrome screening using data from the First and Second Trimester Evaluation of Risk (FASTER) Trial. METHODS: Seven possible screening options for Down syndrome were compared: 1) Triple Screen-maternal serum alpha fetoprotein, estriol, and hCG; 2) Quad-maternal serum alpha fetoprotein, estriol, hCG, and Inhibin A; 3) Combined First-nuchal translucency, pregnancy-associated plasma protein A (PAPP-A), free β-hCG; 4) Integrated-nuchal translucency, PAPP-A, plus Quad; 5) Serum Integrated-PAPP-A, plus Quad; 6) Stepwise Sequential-Combined First plus Quad with results given after each test; and 7) Contingent Sequential-Combined First and only those with risk between 1:30 and 1:1,500 have Quad screen. The detection rates for each option were used given a 5% false-positive rate except for Contingent Sequential with a 4.3% false-positive rate. Outcomes included societal costs of each screening regimen (screening tests, amniocentesis, management of complications, and cost of care of Down syndrome live births), Down syndrome fetuses identified and born, the associated quality-adjusted life years, and the incremental cost-utility ratio. RESULTS: Based on the screening results derived from the 38,033 women evaluated in the FASTER trial, the Contingent Sequential screen dominated (lower costs with better outcomes) all other screens. For example, the Contingent Sequential cost 32.3 million dollars whereas the other screens ranged from 32.8 to 37.5 million dollars. The Sequential strategy led to the identification of the most Down syndrome fetuses of all of the screens, but at a higher cost per Down syndrome case diagnosed ($719,675 compared with $690,427) as compared with the Contingent Sequential. Because of the lower overall false-positive rate leading to fewer procedure-related miscarriages, the Contingent Sequential resulted in the highest quality-adjusted life years as well. The Contingent Sequential remained the most cost-effective option throughout sensitivity analysis of inputs, including amniocentesis rate after positive screen, rate of therapeutic abortion after Down syndrome diagnosis, and rate of procedure-related miscarriages. CONCLUSION: Analysis of this actual data from the FASTER Trial demonstrates that the Contingent Sequential test is the most cost-effective. This information can help shape future policy regarding Down syndrome screening.

Original languageEnglish (US)
Pages (from-to)10-17
Number of pages8
JournalObstetrics and Gynecology
Volume110
Issue number1
DOIs
StatePublished - Jul 2007
Externally publishedYes

Fingerprint

Second Pregnancy Trimester
First Pregnancy Trimester
Down Syndrome
Costs and Cost Analysis
Pregnancy-Associated Plasma Protein-A
Nuchal Translucency Measurement
Estriol
Amniocentesis
Quality-Adjusted Life Years
alpha-Fetoproteins
Spontaneous Abortion
Fetus
Serum
Mothers
Therapeutic Abortion
Live Birth
Elvitegravir, Cobicistat, Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Ball, R. H., Caughey, A., Malone, F. D., Nyberg, D. A., Comstock, C. H., Saade, G. R., ... D'Alton, M. E. (2007). First- and second-trimester evaluation of risk for Down syndrome. Obstetrics and Gynecology, 110(1), 10-17. https://doi.org/10.1097/01.AOG.0000263470.89007.e3

First- and second-trimester evaluation of risk for Down syndrome. / Ball, Robert H.; Caughey, Aaron; Malone, Fergal D.; Nyberg, David A.; Comstock, Christine H.; Saade, George R.; Berkowitz, Richard L.; Gross, Susan J.; Dugoff, Lorraine; Craigo, Sabrina D.; Timor-Tritsch, Ilan E.; Carr, Stephen R.; Wolfe, Honor M.; Emig, Danielle; D'Alton, Mary E.

In: Obstetrics and Gynecology, Vol. 110, No. 1, 07.2007, p. 10-17.

Research output: Contribution to journalArticle

Ball, RH, Caughey, A, Malone, FD, Nyberg, DA, Comstock, CH, Saade, GR, Berkowitz, RL, Gross, SJ, Dugoff, L, Craigo, SD, Timor-Tritsch, IE, Carr, SR, Wolfe, HM, Emig, D & D'Alton, ME 2007, 'First- and second-trimester evaluation of risk for Down syndrome', Obstetrics and Gynecology, vol. 110, no. 1, pp. 10-17. https://doi.org/10.1097/01.AOG.0000263470.89007.e3
Ball, Robert H. ; Caughey, Aaron ; Malone, Fergal D. ; Nyberg, David A. ; Comstock, Christine H. ; Saade, George R. ; Berkowitz, Richard L. ; Gross, Susan J. ; Dugoff, Lorraine ; Craigo, Sabrina D. ; Timor-Tritsch, Ilan E. ; Carr, Stephen R. ; Wolfe, Honor M. ; Emig, Danielle ; D'Alton, Mary E. / First- and second-trimester evaluation of risk for Down syndrome. In: Obstetrics and Gynecology. 2007 ; Vol. 110, No. 1. pp. 10-17.
@article{817df9327ac1471196c4744e3ef44e3e,
title = "First- and second-trimester evaluation of risk for Down syndrome",
abstract = "OBJECTIVE: To investigate the differences in costs and outcomes of Down syndrome screening using data from the First and Second Trimester Evaluation of Risk (FASTER) Trial. METHODS: Seven possible screening options for Down syndrome were compared: 1) Triple Screen-maternal serum alpha fetoprotein, estriol, and hCG; 2) Quad-maternal serum alpha fetoprotein, estriol, hCG, and Inhibin A; 3) Combined First-nuchal translucency, pregnancy-associated plasma protein A (PAPP-A), free β-hCG; 4) Integrated-nuchal translucency, PAPP-A, plus Quad; 5) Serum Integrated-PAPP-A, plus Quad; 6) Stepwise Sequential-Combined First plus Quad with results given after each test; and 7) Contingent Sequential-Combined First and only those with risk between 1:30 and 1:1,500 have Quad screen. The detection rates for each option were used given a 5{\%} false-positive rate except for Contingent Sequential with a 4.3{\%} false-positive rate. Outcomes included societal costs of each screening regimen (screening tests, amniocentesis, management of complications, and cost of care of Down syndrome live births), Down syndrome fetuses identified and born, the associated quality-adjusted life years, and the incremental cost-utility ratio. RESULTS: Based on the screening results derived from the 38,033 women evaluated in the FASTER trial, the Contingent Sequential screen dominated (lower costs with better outcomes) all other screens. For example, the Contingent Sequential cost 32.3 million dollars whereas the other screens ranged from 32.8 to 37.5 million dollars. The Sequential strategy led to the identification of the most Down syndrome fetuses of all of the screens, but at a higher cost per Down syndrome case diagnosed ($719,675 compared with $690,427) as compared with the Contingent Sequential. Because of the lower overall false-positive rate leading to fewer procedure-related miscarriages, the Contingent Sequential resulted in the highest quality-adjusted life years as well. The Contingent Sequential remained the most cost-effective option throughout sensitivity analysis of inputs, including amniocentesis rate after positive screen, rate of therapeutic abortion after Down syndrome diagnosis, and rate of procedure-related miscarriages. CONCLUSION: Analysis of this actual data from the FASTER Trial demonstrates that the Contingent Sequential test is the most cost-effective. This information can help shape future policy regarding Down syndrome screening.",
author = "Ball, {Robert H.} and Aaron Caughey and Malone, {Fergal D.} and Nyberg, {David A.} and Comstock, {Christine H.} and Saade, {George R.} and Berkowitz, {Richard L.} and Gross, {Susan J.} and Lorraine Dugoff and Craigo, {Sabrina D.} and Timor-Tritsch, {Ilan E.} and Carr, {Stephen R.} and Wolfe, {Honor M.} and Danielle Emig and D'Alton, {Mary E.}",
year = "2007",
month = "7",
doi = "10.1097/01.AOG.0000263470.89007.e3",
language = "English (US)",
volume = "110",
pages = "10--17",
journal = "Obstetrics and Gynecology",
issn = "0029-7844",
publisher = "Lippincott Williams and Wilkins",
number = "1",

}

TY - JOUR

T1 - First- and second-trimester evaluation of risk for Down syndrome

AU - Ball, Robert H.

AU - Caughey, Aaron

AU - Malone, Fergal D.

AU - Nyberg, David A.

AU - Comstock, Christine H.

AU - Saade, George R.

AU - Berkowitz, Richard L.

AU - Gross, Susan J.

AU - Dugoff, Lorraine

AU - Craigo, Sabrina D.

AU - Timor-Tritsch, Ilan E.

AU - Carr, Stephen R.

AU - Wolfe, Honor M.

AU - Emig, Danielle

AU - D'Alton, Mary E.

PY - 2007/7

Y1 - 2007/7

N2 - OBJECTIVE: To investigate the differences in costs and outcomes of Down syndrome screening using data from the First and Second Trimester Evaluation of Risk (FASTER) Trial. METHODS: Seven possible screening options for Down syndrome were compared: 1) Triple Screen-maternal serum alpha fetoprotein, estriol, and hCG; 2) Quad-maternal serum alpha fetoprotein, estriol, hCG, and Inhibin A; 3) Combined First-nuchal translucency, pregnancy-associated plasma protein A (PAPP-A), free β-hCG; 4) Integrated-nuchal translucency, PAPP-A, plus Quad; 5) Serum Integrated-PAPP-A, plus Quad; 6) Stepwise Sequential-Combined First plus Quad with results given after each test; and 7) Contingent Sequential-Combined First and only those with risk between 1:30 and 1:1,500 have Quad screen. The detection rates for each option were used given a 5% false-positive rate except for Contingent Sequential with a 4.3% false-positive rate. Outcomes included societal costs of each screening regimen (screening tests, amniocentesis, management of complications, and cost of care of Down syndrome live births), Down syndrome fetuses identified and born, the associated quality-adjusted life years, and the incremental cost-utility ratio. RESULTS: Based on the screening results derived from the 38,033 women evaluated in the FASTER trial, the Contingent Sequential screen dominated (lower costs with better outcomes) all other screens. For example, the Contingent Sequential cost 32.3 million dollars whereas the other screens ranged from 32.8 to 37.5 million dollars. The Sequential strategy led to the identification of the most Down syndrome fetuses of all of the screens, but at a higher cost per Down syndrome case diagnosed ($719,675 compared with $690,427) as compared with the Contingent Sequential. Because of the lower overall false-positive rate leading to fewer procedure-related miscarriages, the Contingent Sequential resulted in the highest quality-adjusted life years as well. The Contingent Sequential remained the most cost-effective option throughout sensitivity analysis of inputs, including amniocentesis rate after positive screen, rate of therapeutic abortion after Down syndrome diagnosis, and rate of procedure-related miscarriages. CONCLUSION: Analysis of this actual data from the FASTER Trial demonstrates that the Contingent Sequential test is the most cost-effective. This information can help shape future policy regarding Down syndrome screening.

AB - OBJECTIVE: To investigate the differences in costs and outcomes of Down syndrome screening using data from the First and Second Trimester Evaluation of Risk (FASTER) Trial. METHODS: Seven possible screening options for Down syndrome were compared: 1) Triple Screen-maternal serum alpha fetoprotein, estriol, and hCG; 2) Quad-maternal serum alpha fetoprotein, estriol, hCG, and Inhibin A; 3) Combined First-nuchal translucency, pregnancy-associated plasma protein A (PAPP-A), free β-hCG; 4) Integrated-nuchal translucency, PAPP-A, plus Quad; 5) Serum Integrated-PAPP-A, plus Quad; 6) Stepwise Sequential-Combined First plus Quad with results given after each test; and 7) Contingent Sequential-Combined First and only those with risk between 1:30 and 1:1,500 have Quad screen. The detection rates for each option were used given a 5% false-positive rate except for Contingent Sequential with a 4.3% false-positive rate. Outcomes included societal costs of each screening regimen (screening tests, amniocentesis, management of complications, and cost of care of Down syndrome live births), Down syndrome fetuses identified and born, the associated quality-adjusted life years, and the incremental cost-utility ratio. RESULTS: Based on the screening results derived from the 38,033 women evaluated in the FASTER trial, the Contingent Sequential screen dominated (lower costs with better outcomes) all other screens. For example, the Contingent Sequential cost 32.3 million dollars whereas the other screens ranged from 32.8 to 37.5 million dollars. The Sequential strategy led to the identification of the most Down syndrome fetuses of all of the screens, but at a higher cost per Down syndrome case diagnosed ($719,675 compared with $690,427) as compared with the Contingent Sequential. Because of the lower overall false-positive rate leading to fewer procedure-related miscarriages, the Contingent Sequential resulted in the highest quality-adjusted life years as well. The Contingent Sequential remained the most cost-effective option throughout sensitivity analysis of inputs, including amniocentesis rate after positive screen, rate of therapeutic abortion after Down syndrome diagnosis, and rate of procedure-related miscarriages. CONCLUSION: Analysis of this actual data from the FASTER Trial demonstrates that the Contingent Sequential test is the most cost-effective. This information can help shape future policy regarding Down syndrome screening.

UR - http://www.scopus.com/inward/record.url?scp=34347333627&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34347333627&partnerID=8YFLogxK

U2 - 10.1097/01.AOG.0000263470.89007.e3

DO - 10.1097/01.AOG.0000263470.89007.e3

M3 - Article

VL - 110

SP - 10

EP - 17

JO - Obstetrics and Gynecology

JF - Obstetrics and Gynecology

SN - 0029-7844

IS - 1

ER -