First trimester contingent test as a screening method for Down's syndrome. A prospective study in the general population

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 25, Issue 11, 2012, Pages 2221-2224

  Sainz, José A ^a,b   Serrano, Rosa ^a   Borrero, Carlota ^a   Turmo, Enriqueta ^a  

^a HOSPITAL UNIVERSITARIO DE VALME   (Spain)

^b UNIVERSITY OF SEVILLE   (Spain)

Author keywords

Down Syndrome; Prenatal screening; Ultrasound markers

Indexed keywords

CHORIONIC GONADOTROPIN; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ARTICLE; BLOOD FLOW; CHROMOSOME ANALYSIS; CONTINGENT TEST; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DOWN SYNDROME; DUCTUS VENOSUS BLOOD FLOW; FALSE POSITIVE RESULT; FEMALE; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; HUMAN; KARYOTYPE 45,X; KARYOTYPE 69 PXXX; NASAL BONE; PRIORITY JOURNAL; PROSPECTIVE STUDY; RISK ASSESSMENT; SCREENING TEST; SENSITIVITY ANALYSIS; SEX CHROMOSOME ABERRATION; TRICUSPID BLOOD FLOW; TRISOMY 13; TRISOMY 18;

ALGORITHMS; BIOLOGICAL MARKERS; CYTOGENETIC ANALYSIS; DOWN SYNDROME; FEMALE; HUMANS; INFANT, NEWBORN; MASS SCREENING; POPULATION; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; PROSPECTIVE STUDIES; SPAIN;

EID: 84867515379     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767058.2012.684168     Document Type: Article

References (42)

1. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, et al.; First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005;353:2001-2011. (Pubitemid 41609093)
2. Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. Screening for trisomy 21 by maternal age fetal nuchal translucency thickness, free beta human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obsted Gynecol 2008;31:618-624.
3. Wright D, Spencer K, Kagan K K, Tørring N, Petersen OB, Christou A, Kallikas J, Nicolaides KH. First-trimester combined screening for trisomy 21 at 7-14 weeks' gestation. Ultrasound Obstet Gynecol 2010;36:404-411.
4. Wald NJ, Watt HC, Hackshaw AK. Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 1999;341:461-467. (Pubitemid 29372885)
5. Wright D, Bradbury I, Benn P, Cuckle H, Ritchie K. Contingent screening for Down syndrome is an efficient alternative to non-disclosure sequential screening. Prenat Diagn 2004;24:762-766. (Pubitemid 39468654)
6. Wright D, Bradbury I, Cuckle H, Gardosi J, Tonks A, Standing S, Benn P. Three-stage contingent screening for Down syndrome. Prenat Diagn 2006;26:528-534. (Pubitemid 43989187)
7. Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol 2005;25:221-226. (Pubitemid 40432687)
8. Programa andaluz de cribado de anomalías congénitas (PACAC). Available at: www.juntadeandalucia.es/servicioandaluzdesalud/ publicaciones.
9. Kagan KO, Cicero S, Staboulidou I, Wright D, Nicolaides KH. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obsted Gynecol 2009;33:259-264.
10. Maiz N, Valencia C, Kagan KO, Wright D, Nicolaides KH. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obsted Gynecol 2009;33:512-517.
11. Kagan KO, Valencia C, Livanos P, Wright D, Nicolaides KH. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0 to 13 + 6 weeks of gestation. Ultrasound Obsted Gynecol 2009;33:18-22.
12. Sahota DS, Leung TY, Chan LW, Law LW, Fung TY, Chen M, Lau TK. Comparison of first-trimester contingent screening strategies for Down syndrome. Ultrasound Obstet Gynecol 2010;35:286-291.
13. Kagan KO, Staboulidou I, Cruz J, Wright D, Nicolaides KH. Two-stage first-trimester screening for trisomy 21 by ultrasound assessment and biochemical testing. Ultrasound Obstet Gynecol 2010;36:542-547.
14. Muñoz-Cortes M, Arigita M, Falguera G, Seres A, Guix D, Baldrich E, Acera A, et al. Contingent screening for Down síndrome completed in the first trimester. Multicenter study. Ultrasound Obsted Gynecol, in press.
15. Cicero S, Avgidou K, Rembouskos G, Kagan KO, Nicolaides KH. Nasal bone in first-trimester screening for trisomy 21. Am J Obstet Gynecol 2006;195:109-114. (Pubitemid 43927522)
16. Borrell A, Gonce A, Martinez JM, Borobio V, Fortuny A, Coll O, Cuckle H. First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers. Prenat Diagn 2005;25:901-905. (Pubitemid 41494985)
17. Bermejo E, Cuevas L, Mendioroz J, Martinez-Frías ML. Vigilancia epidemiológica de anomalías congénitas en España: Análisis de los datos del registro del ECEMC en el período 1980-2008. Boletín del ECEMC. Revista de Dismorfología y Epidemiología. 2009;8:64-91.
18. Direcció General de Salut Pública. Departament de Salut Pública. Generalitat de Catalunya. Indicadors de Salut Maternoinfantil a Catalunya 2003-2005. Available at: http://www.gencat.cat/salut/depsalut/html/ca/ dir2057/indica2003.pdf
19. Christiansen M, Olesen Larsen S. An increase in cost-effectiveness of first trimester maternal screening programmes for fetal chromosome anomalies is obtained by contingent testing. Prenat Diagn 2002;22:482-486. (Pubitemid 34716938)
20. Vadiveloo T, Crossley JA, Aitken DA. First-trimester contingent screening for Down syndrome can reduce the number of nuchal translucency measurements required. Prenat Diagn 2009;29:79-82.
21. Sahota DS, Leung TY, Chan LW, Law LW, Fung TY, Chen M, Lau TK. Comparison of first-trimester contingent screening strategies for Down syndrome. Ultrasound Obsted Gynecol 2010;35:286-291.
22. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, et al. First and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353:2001-2011. (Pubitemid 41609093)
23. Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2008;31:618-624.
24. Wright D, Spencer K, Kagan KK, Torring N, Petersen OB, Christou A, Kallikas J, et al. First-trimester combined screening for trisomy 21 at 7-14 weeks' gestation. Ultrasound Obsted Gynecol 2010;36:404-411.
25. Wald NJ, Watt HC, Hackshaw AK. Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 1999;341:461-467. (Pubitemid 29372885)
26. Wright D, Bradbury I, Benn P, Cuckle H, Ritchie K. Contingent screening for Down syndrome is an efficient alternative to non-disclosure sequential screening. Prenat Diagn. 2004;24:762-766. (Pubitemid 39468654)
27. Wright D, Bradbury I, Cuckle H, Gardosi J, Tonks A, Standing S, Benn P. Three-stage contingent screening for Down syndrome. Prenat Diagn 2006;26:528-534. (Pubitemid 43989187)
28. Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obsted Gynecol 2005;25:221-226. (Pubitemid 40432687)
29. Programa andaluz de cribado de anomalías congénitas (PACAC). Available at: www.juntadeandalucia.es/servicioandaluzdesalud/ publicaciones.
30. Kagan KO, Cicero S, Staboulidou I, Wright D, Nicolaides KH. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol 2009;33:259-264.
31. Maiz N, Valencia C, Kagan KO, Wright D, Nicolaides KH. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol 2009;33:512-517.
32. Kagan KO, Valencia C, Livanos P, Wright D, Nicolaides KH. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. Ultrasound Obstet Gynecol 2009;33:18-22.
33. Sahota DS, Leung TY, Chan LW, Law LW, Fung TY, Chen M, Lau TK. Comparison of first-trimester contingent screening strategies for Down syndrome. Ultrasound Obsted Gynecol 2010;35:286-291.
34. Kagan KO, Staboulidou I, Cruz J, Wright D, Nicolaides KH. Two-stage first-trimester screening for trisomy 21 by ultrasound assessment and biochemical testing. Ultrasound Obsted Gynecol. 2010;36:542-547.
35. Muñoz-Cortes M, Arigita M, Falguera G, Seres A, Guix D, Baldrich E, Acera A, et al. Contingent screening for Down syndrome completed in the first trimester: a multicenter study. Ultrasound Obstet Gynecol 2012;39:396-400.
36. Cicero S, Avgidou K, Rembouskos G, Kagan KO, Nicolaides KH. Nasal bone in first-trimester screening for trisomy 21. Am J Obstet Gynecol. 2006;195:109-114. (Pubitemid 43927522)
37. Borrell A, Gonce A, Martinez JM, Borobio V, Fortuny A, Coll O and Cuckle H. First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers. Prenat Diagn. 2005;25:901-905. (Pubitemid 41494985)
38. Bermejo E, Cuevas L, Mendioroz J, Martinez-Frías ML. Vigilancia epidemiológica de anomalías congénitas en España: Análisis de los datos del registro del ECEMC en el período 1980-2008. Boletín del ECEMC. Revista de Dismorfología y Epidemiología. 2009;8:64-91.
39. Direcció General de Salut Pública. Departament de Salut Pública. Generalitat de Catalunya. Indicadors de Salut Maternoinfantil a Catalunya 2003-2005. Available at: http://www.gencat.cat/salut/depsalut/html/ca/ dir2057/indica2003.pdf
40. Christiansen M, Olesen Larsen S. An increase in cost-effectiveness of first trimester maternal screening programmes for fetal chromosome anomalies is obtained by contingent testing. Prenat Diagn 2002;22:482-486. (Pubitemid 34716938)
41. Vadiveloo T, Crossley JA, Aitken DA. First-trimester contingent screening for Down syndrome can reduce the number of nuchal translucency measurements required. Prenat Diagn 2009;29:79-82.
42. Sahota DS, Leung TY, Chan LW, Law LW, Fung TY, Chen M, Lau TK. Comparison of first-trimester contingent screening strategies for Down syndrome. Ultrasound Obsted Gynecol 2010;35:286-291.