|
|
||||||||
ORIGINAL RESEARCH |
From the Research Division, NTD Laboratories, Huntington Station, New York; Centro Di Diagnosi Prenatale, Palermo, Italy; GeneCare Medical Genetics Center, Chapel Hill, North Carolina; and the Department of Obstetrics and Gynecology, The George Washington University Medical Center, Washington, DC.
Address reprint requests to: David A. Krantz NTD Laboratories 403 Oakwood Road Huntington Station, NY 11746
Objective: To assess the effectiveness of free ß-hCG, pregnancy-associated plasma protein A, and nuchal translucency in a prospective first-trimester prenatal screening study for Down syndrome and trisomy 18.
Methods: Risks were calculated for Down syndrome and trisomy 18 based on maternal age and biochemistry only (n = 10,251), nuchal translucency only (n = 5809), and the combination of nuchal translucency and biochemistry (n = 5809).
Results: The study population included 50 Down syndrome and 20 trisomy 18 cases. Nuchal translucency measurement was done on 33 Down syndrome and 13 trisomy 18 cases. Down syndrome screening using combined biochemistry and ultrasound resulted in a false-positive rate of 4.5% (95% confidence interval [CI] 3.9%, 5.2%) and detection rate of 87.5% (95% CI 47%, 100%) in patients under age 35 years. In older patients, the false-positive rate was 14.3% (95% CI 12.7%, 15.8%) and detection rate was 92% (95% CI 74%, 99%). For trisomy 18 screening, the false-positive rate was 0.4% (95% CI 0.24%, 0.69%) and detection rate was 100% (95% CI 40%, 100%) in younger patients, whereas in older patients the false-positive rate was 1.4% (95% CI 0.9%, 2.0%) and detection rate was 100% (95% CI 66%, 100%). Using modeling, at a fixed 5% false-positive rate, the Down syndrome detection rate was 91%. Conversely, at a fixed 70% Down syndrome detection rate, the false-positive rate was 1.4%.
Conclusion: First-trimester screening for Down syndrome and trisomy 18 is effective and offers substantial benefits to clinicians and patients.
This article has been cited by other articles:
![]() |
B. Weisz and C. H. Rodeck An update on antenatal screening for Down's syndrome and specific implications for assisted reproduction pregnancies Hum. Reprod. Update, September 1, 2006; 12(5): 513 - 518. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. O. Odibo, D. M. Stamilio, D. B. Nelson, H. M. Sehdev, and G. A. Macones A Cost-Effectiveness Analysis of Prenatal Screening Strategies for Down Syndrome Obstet. Gynecol., September 1, 2005; 106(3): 562 - 568. [Abstract] [Full Text] [PDF] |
||||
![]() |
L. D. Platt, N. Greene, A. Johnson, J. Zachary, E. Thom, D. Krantz, J. L. Simpson, R. K. Silver, R. J. M. Snijders, L. Goetzl, et al. Sequential Pathways of Testing After First-Trimester Screening for Trisomy 21 Obstet. Gynecol., October 1, 2004; 104(4): 661 - 666. [Abstract] [Full Text] [PDF] |
||||
![]() |
V. L. Souter, D. A. Nyberg, P. A. Benn, A. Zebelman, F. Luthardt, and D. A. Luthy Correlation of Second-Trimester Sonographic and Biochemical Markers J. Ultrasound Med., April 1, 2004; 23(4): 505 - 511. [Abstract] [Full Text] [PDF] |
||||
![]() |
F. D. Malone and M. E. D'Alton First-Trimester Sonographic Screening for Down Syndrome Obstet. Gynecol., November 1, 2003; 102(5): 1066 - 1079. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. Wapner, E. Thom, J. L. Simpson, E. Pergament, R. Silver, K. Filkins, L. Platt, M. Mahoney, A. Johnson, W. A. Hogge, et al. First-Trimester Screening for Trisomies 21 and 18 N. Engl. J. Med., October 9, 2003; 349(15): 1405 - 1413. [Abstract] [Full Text] [PDF] |
||||
![]() |
P. Rozenberg, L. Malagrida, H. Cuckle, I. Durand-Zaleski, I. Nisand, F. Audibert, C. Benattar, S. Tribalat, M. Cartron, P. Lemarie, et al. Down's syndrome screening with nuchal translucency at 12+0-14+0 weeks and maternal serum markers at 14+1-17+0 weeks: a prospective study Hum. Reprod., April 1, 2002; 17(4): 1093 - 1098. [Abstract] [Full Text] [PDF] |
||||
![]() |
Q.-P. Qin, M. Christiansen, and K. Pettersson Point-of-Care Time-resolved Immunofluorometric Assay for Human Pregnancy-associated Plasma Protein A: Use in First-Trimester Screening for Down Syndrome Clin. Chem., March 1, 2002; 48(3): 473 - 483. [Abstract] [Full Text] [PDF] |
||||
![]() |
A.W. Liao, V. Heath, N. Kametas, K. Spencer, and K.H. Nicolaides First-trimester screening for trisomy 21 in singleton pregnancies achieved by assisted reproduction Hum. Reprod., July 1, 2001; 16(7): 1501 - 1504. [Abstract] [Full Text] [PDF] |
||||
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |