Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18

American Journal of Obstetrics and Gynecology

Volumn 206, Issue 4, 2012, Pages 322.e1-322.e5

  Ashoor, Ghalia ^a   Syngelaki, Argyro ^a   Wagner, Marion ^a   Birdir, Cahit ^a   Nicolaides, Kypros H ^a,b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

first trimester; trisomy 18; trisomy 21

Indexed keywords

CELL FREE DNA; CHORIONIC GONADOTROPIN BETA SUBUNIT; DNA; PREGNANCY ASSOCIATED PLASMA PROTEIN A; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE CONTROL STUDY; CHORION VILLUS; CROWN RUMP LENGTH; DNA DETERMINATION; DUCTUS VENOSUS; FALSE POSITIVE RESULT; FEMALE; FIRST TRIMESTER PREGNANCY; GENE AMPLIFICATION; GENE SEQUENCE; GESTATIONAL AGE; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MATERNAL PLASMA; NUCHAL TRANSLUCENCY MEASUREMENT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT; SENSITIVITY ANALYSIS; SENSITIVITY AND SPECIFICITY; TRICUSPID VALVE REGURGITATION; TRISOMY 18; TRISOMY 21;

EID: 84859320067     PISSN: 00029378     EISSN: 10976868     Source Type: Journal    
DOI: 10.1016/j.ajog.2012.01.029     Document Type: Article

References (25)

1. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011; 31:7-15.
2. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH; Fetal Medicine Foundation First Trimester Screening Group. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Lancet 1998;352:343-6. (Pubitemid 28352196)
3. 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;23:1968-75.
4. Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 2004;191:45-67. (Pubitemid 39077955)
5. Lo YMD, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-7. (Pubitemid 27343304)
6. Chiu RWK, Chan KCA, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 2008;105:20458-63.
7. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 2008; 105:16266-71.
8. Chiu RW, Akolekar R, Zheng YWL, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.
9. Ehrich M, Deciu C, Zwiefelhofer T, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011; 204:205.e1-11.
10. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13:913-20.
11. Sehnert AJ, Rhees B, Comstock D, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011;57:1042-9.
12. Chen EZ, Chiu RWK, Sun H, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011;6:e21791.
13. Shulman L. One small step and one giant leap for noninvasive prenatal screening: an editorial. Am J Obstet Gynecol 2011;204: 183-5.
14. 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.
15. Robinson HP, Fleming JE. A critical evaluation of sonar crown rump length measurements. BJOG 1975;182:702-10.
16. 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;31:376-83.
17. Kagan KO, Wright D, Spencer K, Molina FS, Nicolaides KH. First-trimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancy characteristics. Ultrasound Obstet Gynecol 2008;31:493-502.
18. Alberry MS, Maddocks DG, Hadi MA, et al. Quantification of cell free fetal DNA in maternal plasma in normal pregnancies and in pregnancies with placental dysfunction. Am J Obstet Gynecol 2009;200:98.e1-6.
19. Sifakis S, Zaravinos A, Maiz N, Spandidos DA, Nicolaides KH. First-trimester maternal plasma cell-free fetal DNA and preeclampsia. Am J Obstet Gynecol 2009;201:7.
20. Benn PA, Borrell A, Cuckle H, et al. Prenatal detection of Down syndrome using massively parallel sequencing (MPS): a rapid response position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Available at: http://ispdhome.org/public/ news/2011/ISPD-RR-MPS-24Oct11.pdf. Accessed Dec. 1, 2011.
21. Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med 2011;17:510-3.
22. Nicolaides KH. A model for a new pyramid of prenatal care based on the 11 to 13 weeks'assessment. Prenat Diagn 2011;31:3-6.
23. Chitty LS, Kagan KO, Molina FS, Waters JJ, Nicolaides KH. Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study. BMJ 2006;332:452-5.
24. 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;25:221-6. (Pubitemid 40432687)
25. Nicolaides KH, Chervenak FA, McCullough LB, Avgidou K, Papageorghiou A. Evidence-based obstetric ethics and informed decision-making by pregnant women about invasive diagnosis after first-trimester assessment of risk for trisomy 21. Am J Obstet Gynecol 2005; 193:322-6. (Pubitemid 41159522)