Noninvasive prenatal screening by next-generation sequencing

Annual Review of Genomics and Human Genetics

Volumn 15, Issue , 2014, Pages 327-347

  Gregg, Anthony R ^a   Van Den Veyver, Ignatia B ^b   Gross, Susan J ^c   Madankumar, Rajeevi ^d   Rink, Britton D ^e   Norton, Mary E ^f  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d LONG ISLAND JEWISH MEDICAL CENTER   (United States)

^e OHIO STATE UNIVERSITY   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

cell free DNA; fetal aneuploidy; noninvasive prenatal screening; noninvasive prenatal testing

Indexed keywords

ANEUPLOIDY; CELL FREE SYSTEM; CLINICAL PRACTICE; COST EFFECTIVENESS ANALYSIS; DNA DETERMINATION; EXPRESSED SEQUENCE TAG; FETUS CELL; FOLLOW UP; GENETIC COUNSELING; GENOME; HUMAN; NEXT GENERATION SEQUENCING; NON INVASIVE PROCEDURE; NONINVASIVE PRENATAL SCREENING; PRENATAL SCREENING; REVIEW; RISK FACTOR; SEQUENCE ANALYSIS; DOWN SYNDROME; FEMALE; FETUS; GENETICS; HIGH THROUGHPUT SEQUENCING; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES;

DNA;

ANEUPLOIDY; DNA; DOWN SYNDROME; FEMALE; FETUS; GENETIC COUNSELING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84906889566     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-090413-025341     Document Type: Review

References (117)

1. Adinolfi M, Sherlock J. 1997. First trimester prenatal diagnosis using transcervical cells: an evaluation. Hum. Reprod. Update 3:383-92
2. Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E. 2013. Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center. Prenat. Diagn. 33:251-56
3. Am. Coll. Obstet. Gynecol. Comm. Genet. 2012. ACOG Committee Opinion No. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet. Gynecol. 120:1532-34
4. Am. Coll. Obstet. Gynecol. Comm. Pract. Bull. 2007. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet. Gynecol. 109:217-27
5. Am. Coll. Obstet. Gynecol. Comm. Pract. Bull. 2007. ACOG Practice Bulletin No. 88, December 2007: invasive prenatal testing for aneuploidy. Obstet. Gynecol. 110:1459-67
6. Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH. 2013. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet. Gynecol. 41:26-32
7. Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. 2012. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 206:322-25
8. Avent ND, Madgett TE, Maddocks DG, Soothill PW. 2009. Cell-free fetal DNA in the maternal serum and plasma: current and evolving applications. Curr. Opin. Obstet. Gynecol. 21:175-79
9. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, et al. 2011. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12:745-55
10. Bangsgaard L, Tabor A. 2013. Do pregnant women and their partners make an informed choice about first trimester risk assessment for Down syndrome, and are they satisfied with the choice? Prenat. Diagn. 33:146-52
11. Benn PA, Borrell A, Chiu R, Cuckle H, Dugoff L, et al. 2013. Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat. Diagn. 33:622-29
12. Benn PA, Borrell A, Cuckle H, Dugoff L, Gross S, et al. 2012. Prenatal detection of Down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat. Diagn. 32:1-2
13. Benn PA, Chapman AR. 2010. Ethical challenges in providing noninvasive prenatal diagnosis. Curr. Opin. Obstet. Gynecol. 22:128-34
14. Bianchi DW. 2012. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nat. Med. 18:1041-51
15. Bianchi DW, Avent ND, Costa JM, van der Schoot CE. 2005. Noninvasive prenatal diagnosis of fetal Rhesus D: ready for prime(r) time. Obstet. Gynecol. 106:841-44
16. Bianchi DW, Flint AF, Pizzimenti MF, Knoll JH, Latt SA. 1990. Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc. Natl. Acad. Sci. USA 87:3279-83
17. Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. 2012. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet. Gynecol. 119:890-901
18. Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, et al. 2002. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. Prenat. Diagn. 22:609-15
19. Bianchi DW, Zickwolf GK, Weil GJ, Sylvester S, DeMaria MA. 1996. Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum. Proc. Natl. Acad. Sci. USA 93:705-8
20. Brar H, Wang E, Struble C, Musci TJ, Norton ME. 2013. The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy. J. Matern. Fetal Neonatal Med. 26:143-45
21. Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, et al. 2012. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat. Diagn. 32:730-34
22. Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. 2013. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat. Diagn. 33:667-74
23. Caughey AB, Hopkins LM, Norton ME. 2006. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet. Gynecol. 108:612-16
24. Chan KC, Zhang J, Hui AB, Wong N, Lau TK, et al. 2004. Size distributions of maternal and fetal DNA in maternal plasma. Clin. Chem. 50:88-92
25. Chim SS, Tong YK, Chiu RW, Lau TK, Leung TN, et al. 2005. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc. Natl. Acad. Sci. USA 102:14753-58
26. Chitty LS, Khalil A, Barrett AN, Pajkrt E, Griffin DR, Cole TJ. 2013. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat. Diagn. 33:416-23
27. Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, et al. 2011. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 342:c7401
28. Chiu RW, Cantor CR, Lo YM. 2009. Non-invasive prenatal diagnosis by single molecule counting technologies. Trends Genet. 25:324-31
29. Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, et al. 2008. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl. Acad. Sci. USA 105:20458-63
30. Choi H, Lau TK, Jiang FM, Chan MK, Zhang HY, et al. 2013. Fetal aneuploidy screening by maternal plasma DNA sequencing: "false positive" due to confined placental mosaicism. Prenat. Diagn. 33:198-200
31. Christensen CM. 1997. The Innovator's Dilemma: When New Technologies Cause Great Firms to Fail. Boston, MA: Harvard Bus. Sch. Press
32. Cioni R, Bussani C, Scarselli B, Bucciantini S, Marchionni M, Scarselli G. 2005. Comparison of two techniques for transcervical cell sampling performedin the same study population.Prenat. Diagn. 25:198-202
33. Collins FS, Hamburg MA. 2013. First FDA authorization for next-generation sequencer. N. Engl. J. Med. 369:2369-71
34. Costa JM, Benachi A, Gautier E. 2002. New strategy for prenatal diagnosis of X-linked disorders. N. Engl. J. Med. 346:1502
35. Cuckle H, Benn P. 2010. Multi-marker maternal serum screening for chromosomal abnormalities. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, ed. A Milunsky, JM Milunsky, pp. 771-818. Chichester, UK: Wiley-Blackwell. 6th ed.
36. Dan S, Chen F, Choy KW, Jiang F, Lin J, et al. 2012. Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing. PLoS ONE 7:e27835
37. Dan S, Wang W, Ren J, Li Y, Hu H, et al. 2012. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11, 105 pregnancies with mixed risk factors. Prenat. Diagn. 32:1225-32
38. Daniels G, Finning K, Martin P, Massey E. 2009. Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects. Prenat. Diagn. 29:101-7
39. Darnovsky MD, Stern AM. 2013. The bleak new world of prenatal genetics. Wall Street Journal, June 12. http://online.wsj.com/news/articles/ SB10001424127887323844804578533334085530690
40. Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, Flodman P. 2013. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J. Genet. Couns. 22:291-95
41. Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, et al. 2006. Pregnancy loss rates after midtrimester amniocentesis. Obstet. Gynecol. 108:1067-72
42. Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, et al. 2011. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am. J. Obstet. Gynecol. 204:205.e1-11
43. Elias S. 2010. Amniocentesis and fetal blood sampling. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, ed. A Milunsky, JM Milunsky, pp. 63-93. Chichester, UK: Wiley-Blackwell. 6th ed.
44. Ergin T, Baltaci V, Zeyneloglu HB, Duran EH, Ergeneli MH, Batioglu S. 2001. Non-invasive early prenatal diagnosis using fluorescent in situ hybridization on transcervical cells: comparison of two different methods for retrieval. Eur. J. Obstet. Gynecol. Reprod. Biol. 95:37-41
45. Faas BH, de Ligt J, Janssen I, Eggink AJ, Wijnberger LD, et al. 2012. Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells. Expert Opin. Biol. Ther. 12(Suppl. 1):S19-26
46. Fairbrother G, Johnson S, Musci TJ, Song K. 2013. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat. Diagn. 33:580-83
47. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. 2008. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl. Acad. Sci. USA 105:16266-71
48. Fan HC, Gu W, Wang J, Blumenfeld YJ, El-Sayed YY, Quake SR. 2012. Non-invasive prenatal measurement of the fetal genome. Nature 487:320-24
49. Fan HC, Quake SR. 2010. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS ONE 5:e10439
50. Forabosco A, Percesepe A, Santucci S. 2009. Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses. Eur. J. Hum. Genet. 17:897-903
51. Gao Y, Stejskal D, Jiang F, Wang W. 2014. False-negative trisomy 18 non-invasive prenatal test result due to 48, XXX, +18 placental mosaicism. Ultrasound Obstet. Gynecol. 43:477-78
52. Garfield SS, Armstrong SO. 2012. Clinical and cost consequences of incorporating a novel noninvasive prenatal test into the diagnostic pathway for fetal trisomies. J. Manag. Care Med. 15:34-41
53. Gil MM, Quezada MS, Bregant B, Syngelaki A, Nicolaides KH. 2014. Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies. Fetal Diagn. Ther. 35:151-68
54. Goodspeed TA, Allyse M, Sayres LC, Norton ME, Cho MK. 2012. Translating cell-free fetal DNA technology: structural lessons from non-invasive RhD blood typing. Trends Biotechnol. 31:7-9
55. Grande M, Ordoñez E, Cirigliano V, Cid J, Grau E, et al. 2013. Clinical application of midtrimester non-invasive fetal RHD genotyping and identification of RHD variants in a mixed-ethnic population. Prenat. Diagn. 33:173-78
56. Grati FR, Barlocco A, Grimi B, Milani S, Frascoli G, et al. 2010. Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes. Am. J. Med. Genet. A 152A:1434-42
57. Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, et al. 2013. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet. Med. 15:395-98
58. Guetta E, Simchen MJ, Mammon-Daviko K, Gordon D, Aviram-Goldring A, et al. 2004. Analysis of fetal blood cells in the maternal circulation: challenges, ongoing efforts, and potential solutions. Stem Cells Dev. 13:93-99
59. Hahn S, Sant R, Holzgreve W. 1998. Fetal cells in maternal blood: current and future perspectives. Mol. Hum. Reprod. 4:515-21
60. Hahn S, Zhong XY, Holzgreve W. 2008. Recent progress in non-invasive prenatal diagnosis. Semin. Fetal Neonatal Med. 13:57-62
61. Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, et al. 2013. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet. Med. 15:729-32
62. Hui L, Bianchi DW. 2013. Recent advances in the prenatal interrogation of the human fetal genome. Trends Genet. 29:84-91
63. Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, et al. 2012. Noninvasive whole-genome sequencing of a human fetus. Sci. Transl. Med. 4:137ra76
64. Lau TK, Chen F, Pan X, Pooh RK, Jiang F, et al. 2012. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J. Matern. Fetal Neonatal Med. 25:1370-74
65. Lau TK, Jiang FM, Chan MK, Zhang H, Lo PS, Wang W. 2013. Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencingin twin pregnancies. J. Matern. Fetal Neonatal Med. 26:434-37
66. Lau TK, Jiang FM, Stevenson RJ, Lo TK, Chan LW, et al. 2013. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat. Diagn. 33:602-8
67. Liang D, Lv W, Wang H, Xu L, Liu J, et al. 2013. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat. Diagn. 33:409-15
68. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, et al. 1997. Presence of fetal DNA in maternal plasma and serum. Lancet 350:485-87
69. Lo YM, Hjelm NM, Fidler C, Sargent IL, Murphy MF, et al. 1998. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N. Engl. J. Med. 339:1734-38
70. Lo YM, Lun FM, Chan KC, Tsui NB, Chong KC, et al. 2007. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc. Natl. Acad. Sci. USA 104:13116-21
71. Lo YM, Tsui NB, Chiu RW, Lau TK, Leung TN, et al. 2007. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat. Med. 13:218-23
72. Lun FM, Chiu RW, Chan KC, Leung TY, Lau TK, Lo YM. 2008. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin. Chem. 54:1664-72
73. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, et al. 2005. First-trimester or second-trimester screening, or both, for Down's syndrome. N. Engl. J. Med. 353:2001-11
74. Mennuti MT, Cherry AM, Morrissette JJ, Dugoff L. 2013. Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am. J. Obstet. Gynecol. 209:415-19
75. Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. 1984. An association between low maternal serum α-fetoprotein and fetal chromosomal abnormalities. Am. J. Obstet. Gynecol. 148:886-94
76. Miltenyi S, Müller W, Weichel W, Radbruch A. 1990. High gradient magnetic cell separation with MACS. Cytometry 11:231-38
77. Moise KJ Jr, Boring NH, O'Shaughnessy R, Simpson LL, Wolfe HM, et al. 2013. Circulating cell-free fetal DNA for the detection of RHD status and sex using reflex fetal identifiers. Prenat. Diagn. 33:95-101
78. Morain S, Greene MF, Mello MM. 2013. A new era in noninvasive prenatal testing. N. Engl. J. Med. 369:499-501
79. Natl. Inst. Health. 2013. New NIH awards focus on nanopore technology for DNA sequencing. News Release, Sept. 6, Natl. Inst. Health, Bethesda, MD. http://www.nih.gov/news/health/sep2013/nhgri-06a.htm
80. Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G. 2012. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am. J. Obstet. Gynecol. 207:374-76
81. Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. 2013. 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. 33:575-79
82. Nicolaides KH, Syngelaki A, Gil MM, Quezada MS, Zinevich Y. 2014. Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood. Fetal Diagn. Ther. 35:207-12
83. Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, et al. 2012. 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. 207:137-38
84. Norton ME, Rose NC, Benn P. 2013. Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint. Obstet. Gynecol. 121:847-50
85. Ohno M, Caughey A. 2013. The role of noninvasive prenatal testing as a diagnostic versus a screening tool-a cost-effectiveness analysis. Prenat. Diagn. 33:630-35
86. Osborne CM, Hardisty E, Devers P, Kaiser-Rogers K, Hayden MA, et al. 2013. Discordant noninvasive prenatal testing resultsinapatient subsequently diagnosed with metastatic disease.Prenat. Diagn. 33:609-11
87. Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, et al. 2012. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet. Med. 14:296-305
88. Palomaki GE, Haddow JE. 1987. Maternal serum α-fetoprotein, age, and Down syndrome risk. Am. J. Obstet. Gynecol. 156:460-63
89. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, et al. 2011. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet. Med. 13:913-20
90. Pan M, Li FT, Li Y, Jiang FM, Li DZ, et al. 2013. Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Prenat. Diagn. 33:598-601
91. Papageorgiou EA, Patsalis PC. 2012. Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Med. 4:46
92. Poon LL, Leung TN, Lau TK, Chow KC, Lo YM. 2002. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin. Chem. 48:35-41
93. Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. 2014. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin. Chem. 60:243-50
94. Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, et al. 2013. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat. Diagn. 33:643-49
95. Schaffer A. 2012. Nanopore sequencing. MIT Technol. Rev., May/June. http://www2.technologyreview. com/article/427677/nanopore-sequencing
96. Schindler AM, Martin-du-Pan R. 1972. Prenatal diagnosis of fetal lymphocytes in the maternal blood. Obstet. Gynecol. 40:340-46
97. Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, et al. 2011. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin. Chem. 57:1042-49
98. Simpson JL. 2005. Choosing the best prenatal screening protocol. N. Engl. J. Med. 353:2068-70
99. Simpson JL, Elias S. 2003. Genetics in Obstetrics and Gynecology. Philadelphia: Saunders. 3rd ed.
100. Song K, Musci TJ, Caughey AB. 2013. Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population. J. Matern. Fetal Neonatal Med. 26:1180-85
101. Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J. 2013. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat. Diagn. 33:700-6
102. Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. 2012. 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. 206:319
103. Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, et al. 2012. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat. Diagn. 32:3-9
104. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP. 2013. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am. J. Hum. Genet. 92:167-76
105. Srinivasan P, Westover MB, Bianchi MT. 2012. Propagation of uncertainty in Bayesian diagnostic test interpretation. South. Med. J. 105:452-59
106. Swennenhuis JF, Reumers J, Thys K, Aerssens J, Terstappen LW. 2013. Efficiency of whole genome amplification of single circulating tumor cells enriched by CellSearch and sorted by FACS. Genome Med. 5:106
107. van den Heuvel A, Chitty LS, Dormandy E, Newson A, Deans Z, et al. 2010. Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals. Patient Educ. Couns. 78:24-28
108. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty LS, Mackinson AM. 2003. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technol. Assess. 7(11):1-77
109. Walknowska J, Conte FA, Grumbach MM. 1969. Practical and theoretical implications of fetal-maternal lymphocyte transfer. Lancet 293:1119-22
110. Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. 2013. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat. Diagn. 33:662-66
111. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, et al. 2012. Chromosomal microarray versus karyotyping for prenatal diagnosis. N. Engl. J. Med. 367:2175-84
112. White HE, Dent CL, Hall VJ, Crolla JA, Chitty LS. 2012. Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis. PLoS ONE 7:e45073
113. Wilson KL, Czerwinski JL, Hoskovec JM, Noblin SJ, Sullivan CM, et al. 2013. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. J. Genet. Couns. 22:4-15
114. Woyke T, Tighe D, Mavromatis K, Clum A, Copeland A, et al. 2010. One bacterial cell, one complete genome. PLoS ONE 5:e10314
115. Wright A, Zhou Y, Weier JF, Caceres E, Kapidzic M, et al. 2004. Trisomy 21 is associated with variable defects in cytotrophoblast differentiation along the invasive pathway. Am. J. Med. Genet. A 130A:354-64
116. Wright CF, Burton H. 2009. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum. Reprod. Update. 15:139-51
117. Zimmermann B, Hill M, Gemelos G, Demko Z, Banjevic M, et al. 2012. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat. Diagn. 32:1233-41