Society for Maternal-Fetal Medicine (SMFM) Consult Series #36: Prenatal aneuploidy screening using cell-free DNA

American Journal of Obstetrics and Gynecology

Volumn 212, Issue 6, 2015, Pages 711-716

[No Author Info available]

Author keywords

[No Author keywords available]

Indexed keywords

CELL FREE DEOXYRIBONUCLEIC ACID; DNA; UNCLASSIFIED DRUG;

ANEUPLOIDY; CHROMOSOME; CHROMOSOME DELETION; DIAGNOSTIC ACCURACY; DIAGNOSTIC IMAGING; DIAGNOSTIC TEST ACCURACY STUDY; DNA DETERMINATION; DNA SCREENING; FALSE POSITIVE RESULT; FEMALE; FETUS ECHOGRAPHY; HUMAN; KARYOTYPING; MATERNAL AGE; MATERNAL SERUM SCREENING TEST; MEDICAL SOCIETY; NEXT GENERATION SEQUENCING; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; BLOOD; FETAL DISEASES; GENETICS; PRACTICE GUIDELINE; PREGNANCY; PROCEDURES; STANDARDS;

ANEUPLOIDY; DNA; FEMALE; FETAL DISEASES; HUMANS; MATERNAL SERUM SCREENING TESTS; PREGNANCY;

EID: 84931028539     PISSN: 00029378     EISSN: 10976868     Source Type: Journal    
DOI: 10.1016/j.ajog.2015.03.043     Document Type: Review

References (45)

1. M.E. Norton, H. Brar, and J. Weiss 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 207 2012 137.e1 137.e8
2. G.E. Palomaki, E.M. Kloza, and G.M. Lambert-Messerlian DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study Genet Med 13 2011 913 920
3. D.W. Bianchi, L.D. Platt, and J.D. Goldberg On behalf of the maternal blood is source to accurately diagnose fetal aneuploidy (MELISSA) study group: genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing Obstet Gynecol 119 2012 890 901
4. A.B. Sparks, C.A. Struble, and E.T. Wang 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 206 2012 319.e1 319.e9
5. B. Zimmermann, M. Hill, and G. Gemelos Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci Prenat Diagn 32 2012 1233 1241
6. M.M. Gil, M.S. Quezada, R. Revello, R. Akolekar, and K.H. Nicolaides Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis Ultrasound Obstet Gynecol 45 2015 249 266
7. G.E. Palomaki, C. Deciu, and E.M. Kloza DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study Genet Med 14 2012 296 305
8. J.R. Wax, A. Cartin, R. Chard, F.L. Lucas, and M.G. Pinette Noninvasive prenatal testing: impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21detection J Clin Ultrasound 43 2015 1 6
9. J.R. Wax, R. Chard, A. Cartin, C. Litton, M.G. Pinette, and F.L. Lucas Noninvasive prenatal testing: the importance of pretest trisomy risk and posttest predictive values Am J Obstet Gynecol 212 2015 548 549
10. D.W. Bianchi, R.L. Parker, and J. Wentworth DNA sequencing versus standard prenatal aneuploidy screening N Engl J Med 370 2014 799 808
11. Daley B. Oversold prenatal tests spur some to choose abortions. New England Center for Investigative Reporting. The Boston Globe Dec. 14, 2014. Available at: http://www.bostonglobe.com/metro/2014/12/14/oversold-and-unregulated-flawed-prenatal-tests-leading-abortions-healthy-fetuses/aKFAOCP5N0Kr8S1HirL7EN/story.html. Boston Globe online. Accessed March 19, 2015.
12. M.T. Mennuti, A.M. Cherry, J.J. Morrissette, and L. Dugoff Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am J Obstet Gynecol 209 2013 415 419
13. P. Dar, K.J. Curnow, and S.J. Gross Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing Am J Obstet Gynecol 211 2014 527
14. C.S. Han, and L.D. Platt Noninvasive prenatal testing: need for informed enthusiasm Am J Obstet Gynecol 211 2014 577 580
15. E. Pergament, H. Cuckle, and B. Zimmermann Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort Obstet Gynecol 124 2014 210 218
16. H. Sago, A. Sekizawa Japan NIPT consortium Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: one-year experience Prenat Diagn 35 2015 331 336
17. P.J. Willems, H. Dierickx, and E.S. Vandenakker The first 3,000 non-invasive prenatal testsâ€(NIPT) with the Harmony test in Belgium and the Netherlands Facts Views Vis Obgyn 6 2014 7 12
18. G. Ashoor, A. Syngelaki, L.C.Y. Poon, J.C. Rezende, and K.H. Nicolaides Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics Ultrasound Obstet Gynecol 41 2013 26 32
19. J.A. Canick, E.M. Kloza, and G.M. Lambert-Messerlian DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations Prenat Diagn 32 2012 730 734
20. E. Bevilacqua, M.M. Gil, and K.H. Nicolaides Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies Ultrasound Obstet Gynecol 45 2015 61 66
21. M. del Mar Gil, M.S. Quezada, B. Bregant, A. Syngelaki, and K.H. Nicolaides Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies Fetal Diagn Ther 35 2014 204 211
22. Y. Wang, Y. Chen, and F. Tian Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing Clin Chem 60 2014 251 259
23. D.W. Bianchi, S. Parsa, and S. Bhatt Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology Obstet Gynecol 125 2015 375 382
24. C.J. McNamara, L.A. Limone, T. Westover, and R.C. Miller Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing Obstet Gynecol 123 suppl 1 2014 69S 70S
25. C.M. Osborne, E. Hardisty, and P. Devers Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease Prenat Diagn 33 2013 609 611
26. American College of Obstetricians and Gynecologists Committee on Genetics Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion, no. 545 Obstet Gynecol 120 2012 1532 1534
27. American College of Obstetricians and Gynecologists Committee on Genetics The use of chromosomal microarray analysis in prenatal diagnosis. Committee Opinion, no. 581 Obstet Gynecol 122 2013 1374 1377
28. M.E. Norton, R. Wapner, M. Kupperman, L. Jelliffe-Pawlowski, and R. Currier Cell free DNA analysis vs sequential screening as primary testing considering all fetal chromosomal abnormalities Am J Obstet Gynecol 212 suppl 2015 S2
29. D.W. Bianchi, R.P. Rava, and A.J. Sehnert DNA sequencing versus standard prenatal aneuploidy screening N Engl J Med 371 2014 578
30. H. Zhang, Y. Gao, and F. Jiang Noninvasive prenatal testing for trisomy 21, 18 and 13: clinical experience from 146,958 pregnancies Ultrasound Obstet Gynecol 45 2015 530 538
31. M. Kuppermann, S. Pena, and J.T. Bishop Effect of enhanced information, values clarification, and removal of financial barriers on use of prenatal genetic testing: a randomized clinical trial JAMA 312 2014 1201 1207
32. American College of Obstetricians and Gynecologists Screening for fetal chromosomal abnormalities ACOG Practice Bulletin: no. 77 Obstet Gynecol 109 2007 217 227
33. American College of Obstetricians and Gynecologists Invasive prenatal testing for aneuploidy. ACOG Practice Bulletin no. 88, December 2007 Obstet Gynecol 110 2007 1459 1467
34. S. Chetty, M.J. Garabedian, and M.E. Norton Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening Prenat Diagn 33 2013 542 546
35. D. Wellesley, H. Dolk, and P.A. Boyd Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe Eur J Hum Genet 20 2012 521 526
36. C.M. Alamillo, D. Krantz, M. Evans, M. Fiddler, and E. Pergament Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center Prenat Diagn 33 2013 251 256
37. K.H. Nicolaides, A. Syngelaki, G. Ashoor, C. Birdir, and G. Touzet Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population Am J Obstet Gynecol 207 2012 374.e1 374.e6
38. M.E. Norton, L.L. Jelliffe-Pawlowski, and R.J. Currier Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing Obstet Gynecol 124 2014 979 986
39. B. Bromley, T.D. Shipp, J. Lyons, R.S. Navathe, Y. Groszmann, and B.R. Benacerraf Detection of fetal structural anomalies in a basic first-trimester screening program for aneuploidy J Ultrasound Med 33 2014 1737 1745
40. R.J. Baer, M.E. Norton, and G.M. Shaw Risk of selected structural abnormalities in infants after increased nuchal translucency measurement Am J Obstet Gynecol 211 2014 675.e1 675.e19
41. F.M. Breathnach, F.D. Malone, and G. Lambert-Messerlian First- and second-trimester screening: detection of aneuploidies other than Down syndrome Obstet Gynecol 110 2007 651 657
42. N.L. Vora, and B.M. OEBrien Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution Obstet Gynecol 123 2014 1097 1099
43. R.J. Wapner, C.L. Martin, and B. Levy Chromosomal microarray versus karyotyping for prenatal diagnosis N Engl J Med 367 2012 2175 2184
44. R.J. Shprintzen Velo-cardio-facial syndrome: 30 years of study Dev Disabil Res Rev 14 2008 3 10
45. R.J. Wapner, J.E. Babiarz, and B. Levy Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes Am J Obstet Gynecol 212 2015 332.e1 332.e9