Open accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: A systematic review and meta-analysis

BMJ Open

Volumn 6, Issue 1, 2016, Pages

  Taylor Phillips, Sian ^a   Freeman, Karoline ^a   Geppert, Julia ^a   Agbebiyi, Adeola ^a   Uthman, Olalekan A ^a   Madan, Jason ^a   Clarke, Angus ^b   Quenby, Siobhan ^a   Clarke, Aileen ^a  

^a UNIVERSITY OF WARWICK   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DNA DETERMINATION; DOWN SYNDROME; EDWARDS SYNDROME; FALSE POSITIVE RESULT; FEMALE; FIRST TRIMESTER PREGNANCY; HIGH RISK POPULATION; HUMAN; META ANALYSIS; NON INVASIVE MEASUREMENT; PREGNANCY; PRENATAL SCREENING; REVIEW; SENSITIVITY AND SPECIFICITY; SYSTEMATIC REVIEW; TRISOMY 13; TWINS; BLOOD; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME DISORDERS; PRENATAL DIAGNOSIS; PROCEDURES; TRISOMY;

BIOLOGICAL MARKER; DNA;

BIOMARKERS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; DNA; DOWN SYNDROME; FEMALE; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; TRISOMY;

EID: 84960158680     PISSN: None     EISSN: 20446055     Source Type: Journal    
DOI: 10.1136/bmjopen-2015-010002     Document Type: Review

References (64)

1. Chandrasekharan S, Minear MA, Hung A, et al. Noninvasive prenatal testing goes global. Sci Transl Med 2014;6:231fs15.
2. Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn 2013;33:542-6.
3. Leighton JW, Valverde K, Bernhardt BA. The general public's understanding and perception of direct-to-consumer genetic test results. Public Health Genomics 2012;15:11-21.
4. Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45:249-66.
5. Zhang H, Gao Y, Jiang F, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146, 958 pregnancies. Ultrasound Obstet Gynecol 2015;45:530-8.
6. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;372:1589-97.
7. Reitsma JB, Glas AS, Rutjes AW, et al. Bivariate analysis of sensitivity and specificity produces informative summary measures in diagnostic reviews. J Clin Epidemiol 2005;58:982-90.
8. Hand DJ. Evaluating diagnostic tests: the area under the ROC curve and the balance of errors. Stat Med 2010;29:1502-10.
9. Jackson D, Riley R, White IR. Multivariate meta-analysis: potential and promise. Stat Med 2011;30:2481-98.
10. Whiting PF, Rutjes AW, Westwood ME, et al. QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies. Ann Intern Med 2011;155:529-36.
11. Leeflang MM, Deeks JJ, Gatsonis C, et al. Systematic reviews of diagnostic test accuracy. Ann Intern Med 2008;149:889-97.
12. Dwamena BA. MIDAS: Stata module for meta-analytical integration of diagnostic test accuracy studies. Boston, MA: Boston College Department of Economics, 2008.
13. Schuetz GM, Schlattmann P, Dewey M. Use of 3×2 tables with an intention to diagnose approach to assess clinical performance of diagnostic tests: meta-analytical evaluation of coronary CT angiography studies. BMJ 2012;345:e6717.
14. Shinkins B, Thompson M, Mallett S, et al. Diagnostic accuracy studies: how to report and analyse inconclusive test results. BMJ 2013;346:f2778.
15. Glas AS, Lijmer JG, Prins MH, et al. The diagnostic odds ratio: a single indicator of test performance. J Clin Epidemiol 2003;56:1129-35.
16. Lijmer JG, Bossuyt PM, Heisterkamp SH. Exploring sources of heterogeneity in systematic reviews of diagnostic tests. Stat Med 2002;21:1525-37.
17. Deeks JJ, Macaskill P, Irwig L. The performance of tests of publication bias and other sample size effects in systematic reviews of diagnostic test accuracy was assessed. J Clin Epidemiol 2005;58:882-93.
18. Harbord RM, Higgins JPT. Meta-regression in Stata. Stata J 2008;8:493-519.
19. Harbord RM, Whiting P. metandi: Meta-analysis of diagnostic accuracy using hierarchical logistic regression. Stata J 2009;9:211-29.
20. White IR. Multivariate random-effects meta-regression: updates to mvmeta. Stata J 2011;11:255-70.
21. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370:799-808.
22. Dan S, Ren J, Hu H, et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11105 pregnancies with mixed risk factors. Prenat Diagn 2012;32:1225-32.
23. del Mar Gil M, Quezada MS, Bregant B, et al. Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies. Fetal Diagn Ther 2014;35:204-11.
24. Huang X, Zheng J, Chen M, et al. Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies. Prenat Diagn 2014;34:335-40.
25. Jiang F, Ren J, Chen F, et al. Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Medical Genomics 2012;5:57.
26. Lau TK, Chen F, Pan X, et al. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med 2012;25:1370-4.
27. Lau TK, Cheung SW, Lo PS, et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol 2014;43:254-64.
28. Liang D, Lv W, Wang H, et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013;33:409-15.
29. Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207:374. e1-6.
30. Nicolaides KH, Syngelaki A, Gil M, et al. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013;33:575-9.
31. Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;207:137. e1-8.
32. Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol 2014;124(2 Pt 1):210-18.
33. Porreco RP, Garite TJ, Maurel K, et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol 2014;211:365. e1-12.
34. Shaw SW, Hsiao CH, Chen CY, et al. Noninvasive prenatal testing for whole fetal chromosomal aneuploidies: a multicenter prospective cohort trial in Taiwan. Fetal Diagn Ther 2014;35:13-17.
35. Song Y, Liu C, Qi H, et al. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013;33:700-6.
36. Stumm M, Entezami M, Haug K, et al. Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. Prenat Diagn 2014;34:185-91.
37. Verweij EJ, Jacobsson B, van Scheltema PA, et al. European non-invasive trisomy evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing. Prenat Diagn 2013;33:996-1001.
38. Beamon CJ, Hardisty EE, Harris SC, et al. A single center's experience with noninvasive prenatal testing. Genet Med 2014;16:681-7.
39. Bevilacqua E, Gil MM, Nicolaides KH, et al. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound Obstet Gynecol 2015;45:61-6.
40. Comas C, Echevarria M, Rodriguez MA, et al. Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting. J Matern Fetal Neonatal Med 2015;28:1196-201.
41. Jeon YJ, Zhou Y, Li Y, et al. The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform. PLoS ONE 2014;9:e110240.
42. Korostelev S, Totchiev G, Kanivets I, et al. Association of non-invasive prenatal testing and chromosomal microarray analysis for prenatal diagnostics. Gynecol Endocrinol 2014;30(Suppl 1):13-16.
43. Quezada MS, Gil MM, Francisco C, et al. 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.
44. Sago H, Sekizawa A. Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: one-year experience. Prenat Diagn 2015;35:331-6.
45. Wax JR, Cartin A, Chard R, et al. Noninvasive prenatal testing: impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection. J Clin Ultrasound 2015;43:1-6.
46. Zhou Q, Pan L, Chen S, et al. Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience. Prenat Diagn 2014;34:1061-5.
47. Song Y, Huang S, Zhou X, et al. Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy. Ultrasound Obstet Gynecol 2015;45:55-60.
48. Ashoor G, Syngelaki A, Wagner M, et al. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;206:322. e1-5.
49. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890-901.
50. Chen EZ, Chiu RW, Sun H, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE 2011;6:e21791.
51. Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.
52. 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.
53. Hall MP, Hill M, Zimmermann B, et al. Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach. PLoS ONE 2014;9:e96677.
54. Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14:296-305.
55. 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.
56. Sparks AB, Struble CA, Wang ET, et al. 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.
57. Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32:1233-41.
58. Alberti A, Salomon LJ, Le Lorc'h M, et al. Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma. Prenat Diagn 2015;35:471-6.
59. Dhallan R, Guo X, Emche S, et al. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study. Lancet 2007;369:474-81.
60. Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013;33:569-74.
61. Mersy E, Smits LJ, van Winden LA, et al. Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012. Hum Reprod Update 2013;19:318-29.
62. Verweij EJ, van den Oever JM, de Boer MA, et al. Diagnostic accuracy of noninvasive detection of fetal trisomy 21 in maternal blood: a systematic review. Fetal Diagn Ther 2012;31:81-6.
63. Berkey CS, Hoaglin DC, Antczak-Bouckoms A, et al. Meta-analysis of multiple outcomes by regression with random effects. Stat Med 1998;17:2537-50.
64. McCullough RM, Almasri EA, Guan X, et al. Non-invasive prenatal chromosomal aneuploidy testing-clinical experience: 100, 000 clinical samples. PLoS ONE 2014;9:e109173.