First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing

Ultrasound in Obstetrics and Gynecology

Volumn 45, Issue 1, 2015, Pages 42-47

  Kagan, K O ^a   Wright, D ^b   Nicolaides, K H ^c  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF EXETER   (United Kingdom)

^c KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Cell free DNA; Ductus venosus flow; First trimester screening; Nuchal translucency; Trisomy

Indexed keywords

BIOLOGICAL MARKER; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ADULT; BLOOD; BLOOD FLOW VELOCITY; CELL FREE SYSTEM; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; EARLY DIAGNOSIS; FEMALE; FIRST TRIMESTER PREGNANCY; GENETIC COUNSELING; HUMAN; LABORATORY DIAGNOSIS; MATERNAL AGE; MATERNAL SERUM SCREENING TEST; METABOLISM; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; SENSITIVITY AND SPECIFICITY; TRISOMY;

ADULT; BIOLOGICAL MARKERS; BLOOD FLOW VELOCITY; CELL-FREE SYSTEM; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 21; EARLY DIAGNOSIS; FALSE POSITIVE REACTIONS; FEMALE; GENETIC COUNSELING; HUMANS; MATERNAL AGE; MATERNAL SERUM SCREENING TESTS; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; SENSITIVITY AND SPECIFICITY; TRISOMY;

EID: 84920842694     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.14691     Document Type: Article

References (23)

1. 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.
2. 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.
3. 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 + 6weeks of gestation. Ultrasound Obstet Gynecol 2009; 33: 18-22.
4. 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.
5. Maiz N, Wright D, Ferreira AFA, Syngelaki A, Nicolaides KH. Amixture model of ductus venosus pulsatility index in screening for aneuploidies at 11-13 weeks' gestation. Fetal Diagn Ther 2012; 31: 221-229.
6. 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.
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.
8. 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.
9. Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 2014; 35: 156-173.
10. Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 2013; 42: 41-50.
11. Nicolaides KH, Syngelaki A, Poon LC, Gil MM, Wright D. First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. Fetal Diagn Ther 2014; 35: 185-192.
12. Kagan KO, Wright D, Valencia C, Maiz N, Nicolaides KH. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free b-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008; 23: 1968-1975.
13. Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 2014; 35: 118-126.
14. Wright DE, Bray I. Estimating birth prevalence of Down's syndrome. J Epidemiol Biostat 2000; 5: 89-97.
15. Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first trimester population. Am J Obstet Gynecol 2012; 207: 374.e1-e6.
16. Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013; 33: 700-706.
17. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, Craig JA, Chudova DI, Devers PL, Jones KW, Oliver K, Rava RP, Sehnert AJ; CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014; 370: 799-808.
18. Quezada MS, Gil MM, Francisco C, Oròsz G, Nicolaides KH. Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks. Ultrasound Obstet Gynecol 2015; 45: 36-41.
19. Cuckle H, Benn P, Pergament E. Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis. Prenat Diagn 2013; 33: 636-642.
20. Morris S, Karlsen S, Chung N, Hill M, Chitty LS. 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 2014; 4: e93559.
21. Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH. Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal Diagn Ther 2014; 35: 174-184.
22. Kagan KO, Hoopmann M, Hammer R, Stressig R, Kozlowski P. Screening for chromosomal abnormalities by first trimester combined screening and noninvasive prenatal testing. Ultraschall Med 2014 Sep 25. [Epub ahead of print]
23. Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999; 13: 231-237.