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RECENT DEVELOPMENTS IN NON-INVASIVE PRENATAL DIAGNOSIS AND TESTING

Published online by Cambridge University Press:  24 June 2016

SUZANNE DRURY
Affiliation:
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
MELISSA HILL
Affiliation:
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
LYN S CHITTY
Affiliation:
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK
Corresponding
E-mail address:

Extract

The ability to obtain fetal material that could be used for prenatal genetic diagnosis without requirement for an invasive test was a watershed moment in antenatal care. Cell-free fetal DNA (cffDNA) was identified in the maternal plasma by Lo and colleagues in 1997 1 and despite being technically challenging, non-invasive tests for fetal sex determination, fetal rhesus D (RHD) genotyping, some single gene disorders and the major aneuploidies are now being offered in clinical practice throughout the world 2 . Progress continues at pace and recent developments in next generation sequencing (NGS) are driving significant advances in research and in the clinical application of non-invasive prenatal testing (NIPT) and diagnosis (NIPD) (Table 1).

Type
Review Article
Copyright
Copyright © Cambridge University Press 2016 

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References

1. Lo, YM, Corbetta, N, Chamberlain, PF, Rai, V, Sargent, IL, Redman, CW et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485–7.CrossRefGoogle ScholarPubMed
2. Minear, MA, Lewis, C, Pradhan, S, Chandrasekharan, S. Global perspectives on clinical adoption of NIPT. Prenat Diagn 2015; 35: 959–67.CrossRefGoogle Scholar
3. Faas, BH, Beuling, EA, Christiaens, GC, von dem Borne, AE, van der Schoot, CE. Detection of fetal RHD-specific sequences in maternal plasma. Lancet 1998; 352: 1196.CrossRefGoogle ScholarPubMed
4. Amicucci, P, Gennarelli, M, Novelli, G, Dallapiccola, B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem 2000; 46: 301–2.Google ScholarPubMed
5. Chiu, RW, Lau, TK, Cheung, PT, Gong, ZQ, Leung, TN, Lo, YM. Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin Chem 2002; 48: 778–80.Google ScholarPubMed
6. Chiu, RW, Lau, TK, Leung, TN, Chow, KC, Chui, DH, Lo, YM. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 2002; 360: 9981000.CrossRefGoogle ScholarPubMed
7. Gonzalez-Gonzalez, MC, Garcia-Hoyos, M, Trujillo, MJ, Rodríguez de Alba, M, Lorda-Sánchez, I, Díaz-Recasens, J et al. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn 2002; 22: 946–8.CrossRefGoogle ScholarPubMed
8. Finning, K, Martin, P, Summers, J, Daniels, G. Fetal genotyping for the K (Kell) and Rh C, c, and E blood groups on cell-free fetal DNA in maternal plasma. Transfusion 2007; 47: 2126–33.CrossRefGoogle Scholar
9. 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.CrossRefGoogle ScholarPubMed
10. Chiu, RW, Chan, KC, Gao, Y, Lau, VYM, Zheng, W, Leunget, TY 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.CrossRefGoogle ScholarPubMed
11. Lun, FM, Tsui, NB, Chan, KC, Leung, TY, Lau, TK, Charoenkwan, P et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci USA 2008; 105: 19920–5.CrossRefGoogle ScholarPubMed
12. Lo, Y, Chan, K, Sun, H, Chen, EZ, Jiang, P, Lun, FM et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010; 2: 61ra91.CrossRefGoogle ScholarPubMed
13. Clausen, FB, Christiansen, M, Steffensen, R, Jørgensen, S, Nielsen, C, Jakobsen, MA et al. Report of the first nationally implemented clinical routine screening for fetal RHD in D- pregnant women to ascertain the requirement for antenatal RhD prophylaxis. Transfusion 2012; 52: 752–8.CrossRefGoogle Scholar
14. Chiu, RW, Akolekar, R, Zheng, YW, Leung, TY, Sun, H, Chan, KC et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011; 342: c7401.CrossRefGoogle ScholarPubMed
15. Ehrich, M, Deciu, C, Zwiefelhofer, T, Tynan, JA, Cagasan, L, Tim, R 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.CrossRefGoogle Scholar
16. Chitty, LS, Mason, S, Barrett, AN, McKay, F, Lench, N, Daley, R et al. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. Prenat Diagn 2015; 35: 656–62.CrossRefGoogle Scholar
17. 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.CrossRefGoogle ScholarPubMed
18. Ashoor, G, Syngelaki, A, Wagner, M, Birdir, C, Nicolaides, KH. 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.CrossRefGoogle ScholarPubMed
19. Lam, KW, Jiang, P, Liao, GJ, Chan, KC, Leung, TY, Chiu, RW et al. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia. Clin Chem 2012; 58: 1467–75.CrossRefGoogle Scholar
20. Zimmermann, B, Hill, M, Gemelos, G, Demko, Z, Banjevic, M, Baner, J 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.CrossRefGoogle Scholar
21. Nicolaides, KH, Syngelaki, A, Gil, M, Atanasova, V, Markova, D. 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.CrossRefGoogle Scholar
22. Srinivasan, A, Bianchi, DW, Huang, H, Sehnert, AJ, Rava, RP. Non-invasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013; 92: 167176.CrossRefGoogle Scholar
23. Hill, M, Wright, D, Daley, R, Lewis, C, McKay, F, Mason, S et al. Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol. BMC Pregnancy Childbirth 2014; 14: 229.CrossRefGoogle Scholar
25. Gil, MM, Giunta, G, Macalli, EA, Poon, LC, Nicolaides, KH. UK NHS pilot study on cell-free DNA testing in screening for fetal trisomies: factors affecting uptake. Ultrasound Obstet Gynecol 2015; 45: 6773.CrossRefGoogle ScholarPubMed
26. PEGASUS Study. http://pegasus-pegase.ca/pegasus/. Accessed April 2015.Google Scholar
27. Bianchi, DW, Parker, RL, Wentworth, J, Madankumar, R, Saffer, C, Das, AF et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014; 370: 799808.CrossRefGoogle ScholarPubMed
28. Norton, ME, Jacobsson, B, Swamy, GK, Laurent, LC, Ranziniet, AC, Brar, H et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015; 372: 1589–97.CrossRefGoogle ScholarPubMed
29. Hegelson, JH, Wardrop, J, Boomer, T, Almasri, E, Paxton, WB, Saldivar, JS et al. Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing. Prenat Diagn 2015; 35: 9991004.Google Scholar
30. UK National Screening Committee. Consultation for cell-free DNA testing in the first trimester in the fetal anomaly screening programme. http://legacy.screening.nhs.uk/fetalanomalies. Accessed August 2015.Google Scholar
31. Alberry, M, Maddocks, D, Jones, M, Abdel Hadi, M, Abdel-Fattah, S, Avent, N et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn 2007; 27: 415–18.CrossRefGoogle ScholarPubMed
32. Lo, YM, Zhang, J, Leung, TN, Lau, TK, Chang, AM and Hjelm, NM. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999; 64: 218–24.CrossRefGoogle ScholarPubMed
33. Wang, E, Batey, A, Struble, C, Musci, T, Song, K, Oliphant, A. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013; 33: 662–6.CrossRefGoogle ScholarPubMed
34. Ashoor, G, Syngelaki, A, Poon, LC, Rezende, JC, Nicolaides, KH. Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013; 41: 2632.CrossRefGoogle ScholarPubMed
35. Rava, RP, Srinivasan, A, Sehnert, AJ, Bianchi, DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem 2014; 60: 243–50.CrossRefGoogle ScholarPubMed
36. Barrett, AN, Zimmermann, BG, Wang, D, Holloway, A, Chitty, LS. Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield. PLoS One 2011; 6: e25202.CrossRefGoogle ScholarPubMed
37. Hill, M, Finning, K, Martin, P, Hogg, J, Meaney, C, Norbury, G et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 2011; 80: 6875.CrossRefGoogle ScholarPubMed
38. Daniels, G, Finning, K, Martin, P, Massey, E. Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects. Prenat Diagn 2009; 29: 101–7.CrossRefGoogle ScholarPubMed
39. Devaney, SA, Palomaki, GE, Scott, JA, Bianchi, DW. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011; 306: 627–36.CrossRefGoogle ScholarPubMed
40. Forest, M, Morel, Y, David, M. Prenatal treatment of congenital adrenal hyperplasia. Trends Endocrinol Metab 1998; 9: 284–9.CrossRefGoogle ScholarPubMed
41. Lewis, C, Hill, M, Skirton, H, Chitty, LS. Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery. Prenat Diagn 2012; 32: 735–41.CrossRefGoogle ScholarPubMed
42. Lewis, C, Hill, M, Skirton, H, Chitty, LS. Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective. Eur J Hum Genet 2012; 20: 1127–33.CrossRefGoogle ScholarPubMed
43. Hill, M, Taffinder, S, Chitty, LS, Morris, S. Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England. Prenat Diagn 2011; 31: 267–73.CrossRefGoogle Scholar
44. Rieneck, K, Bak, M, Jonson, L, Clausen, FB, Krog, GR, Tommerup, N et al. Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma. Transfusion 2013; 53: 2892–8.Google ScholarPubMed
45. Clausen, FB. Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care. Prenat Diagn 2014; 34: 409–15.CrossRefGoogle Scholar
46. Chitty, LS, Finning, K, Wade, A, Soothill, P, Martin, B, Oxenford, K et al. Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study. BMJ 2014; 349: g5243.CrossRefGoogle ScholarPubMed
47. Oxenford, K, Silcock, C, Hill, M, Chitty, L. Routine testing of fetal Rhesus D status in Rhesus D negative women using cell-free fetal DNA: an investigation into the preferences and information needs of women. Prenat Diagn 2013; 33: 688–94.CrossRefGoogle Scholar
48. Chitty, LS, Griffin, DR, Meaney, C, Barrett, A, Khalil, A, Pajkrt, E et al. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol 2011; 37: 283–9.CrossRefGoogle ScholarPubMed
49. Hill, M, Twiss, P, Verhoef, TI, Drury, S, McKay, F, Mason, S et al. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn 2015; 35: 950–8.CrossRefGoogle ScholarPubMed
50. Galbiati, S, Brisci, A, Lalatta, F, Seia, M, Makrigiorgos, GM, Ferrari, M et al. Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases. Clin Chem 2011; 57: 136–8.CrossRefGoogle ScholarPubMed
51. Barrett, AN, McDonnell, TC, Chan, KC, Chitty, LS. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin Chem 2012; 58: 1026–32.CrossRefGoogle ScholarPubMed
52. Gu, W, Koh, W, Blumenfeld, YJ, El-Sayed YY Hudgins, L, Hintz, SR et al. Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. Genet Med 2014; 16: 564–7.CrossRefGoogle Scholar
53. Tsui, NB, Kadir, RA, Chan, KC, Chi, C, Mellars, G, Tuddenham, EG et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011; 117: 3684–91.CrossRefGoogle ScholarPubMed
54. New, MI, Tong, YK, Yuen, T, Jiang, P, Pina, C, Chan, KC et al. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J Clin Endocrinol Metab 2014; 99: E1022–30.CrossRefGoogle ScholarPubMed
55. Papasavva, T, van Ijcken, WF, Kockx, CE, van den Hout, MC, Kountouris, P, Kythreotis, L et al. Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to beta-thalassaemia. Eur J Hum Genet 2013; 21: 1403–10.CrossRefGoogle ScholarPubMed
56. Kitzman, JO, Snyder, MW, Ventura, M, Lewis, AP, Qiu, R, Simmons, LE et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012; 4: 137ra76.CrossRefGoogle Scholar
57. Fan, HC, Gu, W, Wang, J, Blumenfeld, YJ, El-Sayed, YY, Quake, SR. Non-invasive prenatal measurement of the fetal genome. Nature 2012; 487: 320–4.CrossRefGoogle ScholarPubMed
58. Lewis, C, Hill, M, Chitty, LS. Non-invasive prenatal diagnosis for single gene disorders: experience of patients. Clin Genet 2014; 85: 336–42.CrossRefGoogle ScholarPubMed
59. Malone, FD, Canick, JA, Ball, RH, Nyberg, DA, Comstock, CH, Bukowski, R et al. First-trimester or second-trimester screening, or both, for down's syndrome. N Engl J Med 2005; 353: 2001–11.CrossRefGoogle ScholarPubMed
60. American College of Obstetricians and Gynecologists. Committee opinion No. 640: Cell-free DNA screening for fetal aneuploidy. Obstet Gynecol 2015; 126: e31–7.CrossRefGoogle ScholarPubMed
61. Sparks, AB, Wang, ET, Struble, CA, Barrett, W, Stokowski, R, McBride, C et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012; 32: 39.CrossRefGoogle ScholarPubMed
62. Ashoor, G, Poon, L, Syngelaki, A, Mosimann, B, Nicolaides, KH. Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks' gestation: effect of maternal and fetal factors. Fetal Diagn Ther 2012; 31: 237–43.CrossRefGoogle ScholarPubMed
63. Norton, ME, Brar, H, Weiss, J, Karimi, A, Laurent, LC, Caughey, AB 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.CrossRefGoogle ScholarPubMed
64. Gil, MM, Quezada, MS, Revello, R, Akolekar, R, Nicolaides, KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015; 45: 249–66.CrossRefGoogle ScholarPubMed
65. Lau, TK, Chan, MK, Salome Lo, PS, Chan, HY, Chan, WS, Koo, TY et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test - early experience. J Matern Fetal Neonatal Med 2012; 25: 1856–9.CrossRefGoogle ScholarPubMed
66. Rabinowitz, M, Valenti, E, Pettersen, B, Sigurjonsson, S, Hill, M, Zimmermann, B. Noninvasive aneuploidy detection by multiplexed amplification and sequencing of polymorphic Loci. Obstet Gynecol 2014; 123 (Suppl. 1): 167S.Google Scholar
67. Leung, TY, Qu, JZ, Liao, GJ, Jiang, P, Cheng, YK, Chan, KC et al. Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing. Prenat Diagn 2013; 33: 675–81.CrossRefGoogle ScholarPubMed
68. Benn, P, Cuckle, H, Pergament, E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013; 42: 1533.CrossRefGoogle ScholarPubMed
69. Wang, Y, Chen, Y, Tian, F, Zhang, J, Song, Z, Wu, Y et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014; 60: 251–9.CrossRefGoogle ScholarPubMed
70. Agatisa, PK, Mercer, MB, Leek, AC, Smith, MB, Philipson, E, Farrell, RM. A first look at women's perspectives on noninvasive prenatal testing to detect sex chromosome aneuploidies and microdeletion syndromes. Prenat Diagn 2015; 35: 692–8.CrossRefGoogle Scholar
71. Dondorp, W, de Wert, G, Bombard, Y, Bianchi, DW, Bergmann, C, Borry, P et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet 2015; 23: 1438–50.CrossRefGoogle ScholarPubMed
72. Lau, TK, Chan, MK, Salome Lo, PS, Chan, HY, Chan, WK, Koo, TY et al. Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women. J Matern Fetal Neonatal Med 2012; 25: 2616–19.CrossRefGoogle ScholarPubMed
73. Futch, T, Spinosa, J, Bhatt, S, de Feo, E, Rava, RP, Sehnert, AJ. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013; 33: 569–74.CrossRefGoogle ScholarPubMed
74. 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: 667–74.CrossRefGoogle ScholarPubMed
75. Wang, JC, Sahoo, T, Schonberg, S, Kopita, KA, Ross, L, Patek, K et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med 2015; 17: 234–6.CrossRefGoogle ScholarPubMed
76. Zhang, H, Gao, Y, Jiang, F, Fu, M, Yuan, Y, Guo, Y 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.CrossRefGoogle ScholarPubMed
77. Gromminger, S, Yagmur, E, Erkan, S, Nagy, S, Schöcket, U, Bonnet, J et al. Fetal aneuploidy detection by cell-free DNA sequencing for multiple pregnancies and quality issues with vanishing twins. J Clin Med 2014; 3: 679–92.CrossRefGoogle ScholarPubMed
78. Pan, M, Li, FT, Li, Y, Jiang, FM, Li, DZ, Lau, TK et al. 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 2013; 33: 598601.CrossRefGoogle Scholar
79. Bianchi, DW, Chudova, D, Sehnert, AJ, Sehnert, AJ, Bhatt, S, Murray, K et al. Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA 2015; 314: 162–9.CrossRefGoogle ScholarPubMed
80. 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 (8): 778–83.CrossRefGoogle ScholarPubMed
81. Pergament, E, Cuckle, H, Zimmermann, B, Banjevic, M, Sigurjonsson, S, Ryan, A et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol 2014; 124: 210–8.CrossRefGoogle Scholar
82. Norton, ME, Jelliffe-Pawlowski, LL, Currier, RJ. Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing. Obstet Gynecol 2014; 124: 979–86.CrossRefGoogle ScholarPubMed
83. Petersen, OB, Vogel, I, Ekelund, C, Hyett, J, Tabor, A. Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. Ultrasound Obstet Gynecol 2014; 43: 265–71.CrossRefGoogle ScholarPubMed
84. Chen, S, Lau, TK, Zhang, C, Xu, C, Xu, Z, Hu, P et al. A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn 2013; 33: 584–90.CrossRefGoogle ScholarPubMed
85. Lo, KK, Karampetsou, E, Boustred, C, McKay, F, Mason, S, Hill, M et al. Limited clinical utility of non-invasive prenatal testing for subchromosomal abnormalities. Am J Hum Genet 2016; 98: 3444.CrossRefGoogle ScholarPubMed
86. Hill, M, Compton, C, Karunaratna, M, Lewis, C, Chitty, L. Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis. J Genet Couns 2014; 23: 1012–21.CrossRefGoogle ScholarPubMed
87. Hill, M, Karunaratna, M, Lewis, C, Forya, F, Chitty, L. Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom. Am J Med Genet A 2013; 161A: 1612–18.CrossRefGoogle ScholarPubMed
88. Benn, P, Borrell, A, Cuckle, H, Dugoff, L, Gross, S, Johnson, JA et al. 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 2012; 32: 12.CrossRefGoogle Scholar
89. Devers, PL, Cronister, A, Ormond, KE, Facio, F, Brasington, CK, Flodman, P. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the national society of genetic counselors. J Genet Couns 2013; 22: 291–5.CrossRefGoogle ScholarPubMed
90. Royal College of Obsetricians and Gynaecologists. Non-invasive prenatal testing for chromosomal abnormality using maternal plasma DNA (Scientific Impact Paper No. 15). Available from http://wwwrcogorguk/noninvasive-prenantal-diagnosis-using-cell-free-dna-maternal-blood. Accessed September 2015.Google Scholar
91. Lewis, C, Silcock, C, Chitty, LS. Non-invasive prenatal testing for Down's syndrome: pregnant women's views and likely uptake. Public Health Genomics 2013; 16: 223–32.CrossRefGoogle ScholarPubMed
92. Lewis, C, Hill, M, Silcock, C, Daley, R, Chitty, L. Non-invasive prenatal testing for trisomy 21: a cross-sectional survey of service users' views and likely uptake. BJOG 2014; 121: 582–94.CrossRefGoogle ScholarPubMed
93. Allyse, M, Sayres, LC, Goodspeed, TA, Cho, MK. Attitudes towards non-invasive prenatal testing for aneuploidy among US adults of reproductive age. J Perinatol 2014; 34: 429–34.CrossRefGoogle ScholarPubMed
94. Skirton, H, Patch, C. Factors affecting the clinical use of non-invasive prenatal testing: a mixed methods systematic review. Prenatal Diagnosis 2013; 33: 532–41.CrossRefGoogle ScholarPubMed
95. Skirton, H, Goldsmith, L, Jackson, L, Lewis, C, Chitty, L. Offering prenatal diagnostic tests: European guidelines for clinical practice. Eur J Hum Genet 2014; 22: 580–6.CrossRefGoogle ScholarPubMed
96. Hill, M, Fisher, J, Chitty, LS, Morris, S. Women's and health professionals' preferences for prenatal tests for down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests. Genet Med 2012; 14: 905–13.CrossRefGoogle ScholarPubMed
97. van Schendel, RV, Dondorp, WJ, Timmermans, DR, van Hugte, EJ, de Boer, A, Pajkrt, E et al. NIPT-based screening for down syndrome and beyond: what do pregnant women think? Prenat Diagn 2015; 35: 598604.CrossRefGoogle ScholarPubMed
98. Skirton, H, Goldsmith, L, Chitty, LS. An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders. Eur J Hum Genet 2015; 23: 1004–9.CrossRefGoogle ScholarPubMed
99. Farrell, RM, Agatisa, PK, Nutter, B. What women want: lead considerations for current and future applications of noninvasive prenatal testing in prenatal care. Birth 2014; 41: 276–82.CrossRefGoogle ScholarPubMed
100. Horsting, JM, Dlouhy, SR, Hanson, K, Quaid, K, Bai, S, Hines, KA. Genetic counselors' experience with cell-free fetal DNA testing as a prenatal screening option for aneuploidy. J Genet Couns 2014; 23: 377400.CrossRefGoogle ScholarPubMed
101. de Jong, A, Dondorp, WJ, Frints, SG, de Die-Smulders, CE, de Wert, GM. Advances in prenatal screening: the ethical dimension. Nature Reviews Genetics 2011; 12: 657–63.CrossRefGoogle ScholarPubMed
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