A unified approach to risk assessment for fetal aneuploidies

Ultrasound in Obstetrics and Gynecology

Volumn 45, Issue 1, 2015, Pages 48-54

  Wright, D ^a   Wright, A ^a   Nicolaides, K H ^b  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Bayes' theorem; Cell free DNA; Fetal fraction; First trimester screening; Nuchal translucency; Serum free hCG; Serum PAPP A; Trisomy 13; Trisomy 18; Trisomy 21

Indexed keywords

BIOLOGICAL MARKER; CHORIONIC GONADOTROPIN BETA SUBUNIT; DNA; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

BAYES THEOREM; BLOOD; CELL FREE SYSTEM; DOWN SYNDROME; FEMALE; FIRST TRIMESTER PREGNANCY; GENETICS; HUMAN; MATERNAL AGE; MATERNAL SERUM SCREENING TEST; METABOLISM; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PRENATAL DIAGNOSIS; RISK ASSESSMENT;

BAYES THEOREM; BIOLOGICAL MARKERS; CELL-FREE SYSTEM; CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN; DNA; DOWN SYNDROME; FEMALE; HUMANS; MATERNAL AGE; MATERNAL SERUM SCREENING TESTS; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; PRENATAL DIAGNOSIS; RISK ASSESSMENT;

EID: 84920928085     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.14694     Document Type: Article

References (13)

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. 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 beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008; 23: 1968-1975.
3. 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.
4. Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 206: 319.e1-9.
5. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011; 13: 913-920.
6. Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013; 33: 667-674.
7. Benn P, Cuckle H. Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma. Prenat Diagn 2014; 34: 778-783.
8. Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol 2008; 31: 376-383.
9. Wright D, Spencer K, Kagan 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.
10. Office for National Statistics. Live Births in England and Wales by Characteristics of Mother 1, 2011. http://www.ons.gov.uk/ons/publications/re-reference-tables.html?edition=tcm%3A77-241261.
11. Wright DE, Bray I. Estimating birth prevalence of Down's syndrome. J Epidemiol Biostat 2000; 5: 89-97.
12. R Development Core Team. R: A language and environment for statistical computing. R Foundation for Statistical Computing: Vienna, Austria, 2011. ISBN 3-900051-07-0, http://www.R-project.org/.
13. Hutcheon JA, Chiolero A, Hanley JA. Random measurement error and regression dilution bias. BMJ 2010; 340: c2289.