Cell-Free Fetal DNA Testing for Prenatal Diagnosis

Advances in Clinical Chemistry

Volumn 76, Issue , 2016, Pages 1-35

  Drury, S ^a,b   Hill, M ^a,b   Chitty, L S ^a,b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Aneuploidy; Cell free DNA; cffDNA; NIPD; NIPT; Noninvasive prenatal diagnosis; Noninvasive prenatal testing; Single gene disorders

Indexed keywords

DNA; GENETIC MARKER;

CELL FREE SYSTEM; FEMALE; FETUS; GENETIC MARKER; GENETIC SCREENING; GENETICS; HUMAN; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES;

CELL-FREE SYSTEM; DNA; FEMALE; FETUS; GENETIC MARKERS; GENETIC TESTING; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84977584637     PISSN: 00652423     EISSN: None     Source Type: Book Series    
DOI: 10.1016/bs.acc.2016.05.004     Document Type: Chapter

References (165)

1. [1] Lo, Y.M., Corbetta, N., Chamberlain, P.F., Rai, V., Sargent, I.L., Redman, C.W., et al. Presence of fetal DNA in maternal plasma and serum. Lancet 350 (1997), 485–487, 10.1016/S0140-6736(97)02174-0.
2. [2] Bianchi, D.W., Williams, J.M., Sullivan, L.M., Hanson, F.W., Klinger, K.W., Shuber, A.P., PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies. Am. J. Hum. Genet. 61 (1997), 822–829, 10.1086/514885.
3. [3] Tabor, A., Alfirevic, Z., Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn. Ther. 27 (2010), 1–7, 10.1159/000271995.
4. [4] 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. 80 (2011), 68–75, 10.1111/j.1399-0004.2010.01533.x.
5. [5] Lewis, C., Hill, M., Skirton, H., Chitty, L.S., Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective. Eur. J. Hum. Genet. 20 (2012), 1127–1133, 10.1038/ejhg.2012.50.
6. [6] Banch Clausen, F., Steffensen, R., Christiansen, M., Rudby, M., Jakobsen, M.A., Jakobsen, T.R., et al. Routine noninvasive prenatal screening for fetal RHD in plasma of RhD-negative pregnant women-2 years of screening experience from Denmark. Prenat. Diagn. 34 (2014), 1000–1005, 10.1002/pd.4419.
7. [7] Chitty, L.S., Mason, S., Barrett, A.N., 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. 35 (2015), 656–662, 10.1002/pd.4583.
8. [8] Fan, H.C., Blumenfeld, Y.J., Chitkara, U., Hudgins, L., Quake, S.R., Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl. Acad. Sci. U.S.A. 105 (2008), 16266–16271, 10.1073/pnas.0808319105.
9. [9] Chiu, R.W.K., Chan, K.C.A., Gao, Y., Lau, V.Y.M., Zheng, W., Leung, T.Y., et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl. Acad. Sci. U.S.A. 105 (2008), 20458–20463, 10.1073/pnas.0810641105.
10. [10] Lo, Y.M.D., Chan, K.C.A., Sun, H., Chen, E.Z., Jiang, P., Lun, F.M.F., et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci. Transl. Med., 2, 2010, 61ra91, 10.1126/scitranslmed.3001720.
11. [11] Bianchi, D.W., Fetal cells in the maternal circulation: feasibility for prenatal diagnosis. Br. J. Haematol. 105 (1999), 574–583.
12. [12] Bianchi, D.W., Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta 25:Suppl. A (2004), S93–S101, 10.1016/j.placenta.2004.01.005.
13. [13] Zhong, X.Y., Holzgreve, W., Hahn, S., Cell-free fetal DNA in the maternal circulation does not stem from the transplacental passage of fetal erythroblasts. Mol. Hum. Reprod. 8 (2002), 864–870.
14. [14] Angert, R.M., LeShane, E.S., Lo, Y.M.D., Chan, L.Y.S., Delli-Bovi, L.C., Bianchi, D.W., Fetal cell-free plasma DNA concentrations in maternal blood are stable 24 hours after collection: analysis of first- and third-trimester samples. Clin. Chem. 49 (2003), 195–198.
15. [15] Chim, S.S.C., Tong, Y.K., Chiu, R.W.K., Lau, T.K., Leung, T.N., Chan, L.Y.S., et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc. Natl. Acad. Sci. U.S.A. 102 (2005), 14753–14758, 10.1073/pnas.0503335102.
16. [16] Chiu, R.W.K., Chim, S.S.C., Wong, I.H.N., Wong, C.S.C., Lee, W.-S., To, K.F., et al. Hypermethylation of RASSF1A in human and rhesus placentas. Am. J. Pathol. 170 (2007), 941–950, 10.2353/ajpath.2007.060641.
17. [17] Chan, K.C.A., Ding, C., Gerovassili, A., Yeung, S.W., Chiu, R.W.K., Leung, T.N., et al. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin. Chem. 52 (2006), 2211–2218, 10.1373/clinchem.2006.074997.
18. [18] 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. 27 (2007), 415–418, 10.1002/pd.1700.
19. [19] Zhou, Y., Zhu, Z., Gao, Y., Yuan, Y., Guo, Y., Zhou, L., et al. Effects of maternal and fetal characteristics on cell-free fetal DNA fraction in maternal plasma. Reprod. Sci. (Thousand Oaks, CA) 22 (2015), 1429–1435, 10.1177/1933719115584445.
20. [20] Guibert, J., Benachi, A., Grebille, A.-G., Ernault, P., Zorn, J.-R., Costa, J.-M., Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique. Hum. Reprod. 18 (2003), 1733–1736.
21. [21] Hochstenbach, R., Nikkels, P.G.J., Elferink, M.G., Oudijk, M.A., van Oppen, C., van Zon, P., et al. Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case. Clin. Case Rep. 3 (2015), 489–491, 10.1002/ccr3.285.
22. [22] Lo, Y.M., Zhang, J., Leung, T.N., Lau, T.K., Chang, A.M., Hjelm, N.M., Rapid clearance of fetal DNA from maternal plasma. Am. J. Hum. Genet. 64 (1999), 218–224, 10.1086/302205.
23. [23] Bianchi, D.W., Zickwolf, G.K., Weil, G.J., Sylvester, S., DeMaria, M.A., Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum. Proc. Natl. Acad. Sci. U.S.A. 93 (1996), 705–708.
24. [24] Lo, Y.M.D., Tein, M.S.C., Lau, T.K., Haines, C.J., Leung, T.N., Poon, P.M.K., et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am. J. Hum. Genet. 62 (1998), 768–775, 10.1086/301800.
25. [25] Lun, F.M.F., Chiu, R.W.K., Allen Chan, K.C., Yeung Leung, T., Kin Lau, T., Dennis Lo, Y.M., Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin. Chem. 54 (2008), 1664–1672, 10.1373/clinchem.2008.111385.
26. [26] 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. 33 (2013), 662–666, 10.1002/pd.4119.
27. [27] Palomaki, G.E., Deciu, C., Kloza, E.M., Lambert-Messerlian, G.M., Haddow, J.E., Neveux, L.M., 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. 14 (2012), 296–305, 10.1038/gim.2011.73.
28. [28] Sparks, A.B., Struble, C.A., Wang, E.T., 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. 206 (2012), 319.e1–319.e9, 10.1016/j.ajog.2012.01.030.
29. [29] Palomaki, G.E., Kloza, E.M., Lambert-Messerlian, G.M., Haddow, J.E., Neveux, L.M., Ehrich, M., et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet. Med. 13 (2011), 913–920, 10.1097/GIM.0b013e3182368a0e.
30. [30] Brar, H., Wang, E., Struble, C., Musci, T.J., Norton, M.E., 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 (2012), 143–145, 10.3109/14767058.2012.722731.
31. [31] Vora, N.L., Johnson, K.L., Basu, S., Catalano, P.M., Hauguel-De Mouzon, S., Bianchi, D.W., A multifactorial relationship exists between total circulating cell-free DNA levels and maternal BMI. Prenat. Diagn. 32 (2012), 912–914, 10.1002/pd.3919.
32. [32] Canick, J.A., Palomaki, G.E., Kloza, E.M., Lambert-Messerlian, G.M., Haddow, J.E., The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat. Diagn. 33 (2013), 667–674, 10.1002/pd.4126.
33. [33] Chiu, R.W.K., Akolekar, R., Zheng, Y.W.L., Leung, T.Y., Sun, H., Chan, K.C.A., et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ, 342, 2011, c7401.
34. [34] Hudecova, I., Sahota, D., Heung, M.M.S., Jin, Y., Lee, W.S., Leung, T.Y., et al. Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies. PLoS One, 9, 2014, e88484, 10.1371/journal.pone.0088484.
35. [35] Attilakos, G., Maddocks, D.G., Davies, T., Hunt, L.P., Avent, N.D., Soothill, P.W., et al. Quantification of free fetal DNA in multiple pregnancies and relationship with chorionicity. Prenat. Diagn. 31 (2011), 967–972, 10.1002/pd.2814.
36. [36] Lo, Y.M., Leung, T.N., Tein, M.S., Sargent, I.L., Zhang, J., Lau, T.K., et al. Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia. Clin. Chem. 45 (1999), 184–188.
37. [37] Zhong, X.Y., Laivuori, H., Livingston, J.C., Ylikorkala, O., Sibai, B.M., Holzgreve, W., et al. Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsia. Am. J. Obstet. Gynecol. 184 (2001), 414–419, 10.1067/mob.2001.109594.
38. [38] Swinkels, D.W., de Kok, J.B., Hendriks, J.C.M., Wiegerinck, E., Zusterzeel, P.L.M., Steegers, E.A.P., Hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome as a complication of preeclampsia in pregnant women increases the amount of cell-free fetal and maternal DNA in maternal plasma and serum. Clin. Chem. 48 (2002), 650–653.
39. [39] Hahn, S., Holzgreve, W., Fetal cells and cell-free fetal DNA in maternal blood: new insights into pre-eclampsia. Hum. Reprod. Update 8 (2002), 501–508.
40. [40] Leung, T.N., Zhang, J., Lau, T.K., Chan, L.Y., Lo, Y.M., Increased maternal plasma fetal DNA concentrations in women who eventually develop preeclampsia. Clin. Chem. 47 (2001), 137–139.
41. [41] Leung, T.N., Zhang, J., Lau, T.K., Hjelm, N.M., Lo, Y.M., Maternal plasma fetal DNA as a marker for preterm labour. Lancet 352 (1998), 1904–1905, 10.1016/S0140-6736(05)60395-9.
42. [42] Sekizawa, A., Jimbo, M., Saito, H., Iwasaki, M., Sugito, Y., Yukimoto, Y., et al. Increased cell-free fetal DNA in plasma of two women with invasive placenta. Clin. Chem. 48 (2002), 353–354.
43. [43] Sekizawa, A., Sugito, Y., Iwasaki, M., Watanabe, A., Jimbo, M., Hoshi, S., et al. Cell-free fetal DNA is increased in plasma of women with hyperemesis gravidarum. Clin. Chem. 47 (2001), 2164–2165.
44. [44] Lo, Y.M., Fetal DNA in maternal plasma: biology and diagnostic applications. Clin. Chem. 46 (2000), 1903–1906.
45. [45] Barrett, A.N., McDonnell, T.C.R., Chan, K.C.A., Chitty, L.S., Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin. Chem. 58 (2012), 1026–1032, 10.1373/clinchem.2011.178939.
46. [46] Dhallan, R., Au, W., Mattagajasingh, S., et al. Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA 291 (2004), 1114–1119, 10.1001/jama.291.9.1114.
47. [47] Chan, K.C.A., Zhang, J., Hui, A.B.Y., Wong, N., Lau, T.K., Leung, T.N., et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin. Chem. 50 (2004), 88–92, 10.1373/clinchem.2003.024893.
48. [48] Yu, S.C.Y., Chan, K.C.A., Zheng, Y.W.L., Jiang, P., Liao, G.J.W., Sun, H., et al. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc. Natl. Acad. Sci. U.S.A. 111 (2014), 8583–8588, 10.1073/pnas.1406103111.
49. [49] Li, Y., Di Naro, E., Vitucci, A., Zimmermann, B., Holzgreve, W., Hahn, S., Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 293 (2005), 843–849, 10.1001/jama.293.7.843.
50. [50] Lun, F.M.F., Tsui, N.B.Y., Chan, K.C.A., Leung, T.Y., Lau, T.K., 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. U.S.A. 105 (2008), 19920–19925, 10.1073/pnas.0810373105.
51. [51] Scheffer, P.G., van der Schoot, C.E., Page-Christiaens, G.C.M.L., de Haas, M., Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation of a 7-year clinical experience. BJOG 118 (2011), 1340–1348, 10.1111/j.1471-0528.2011.03028.x.
52. [52] Chitty, L.S., 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, 349, 2014, g5243, 10.1136/bmj.g5243.
53. [53] Hyett, J.A., Gardener, G., Stojilkovic-Mikic, T., Finning, K.M., Martin, P.G., Rodeck, C.H., et al. Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy. Prenat. Diagn. 25 (2005), 1111–1116, 10.1002/pd.1284.
54. [54] New, M.I., Abraham, M., Yuen, T., Lekarev, O., An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia. Semin. Reprod. Med. 30 (2012), 396–399, 10.1055/s-0032-1324723.
55. [55] Chitty, L.S., Chatelain, P., Wolffenbuttel, K.P., Aigrain, Y., Prenatal management of disorders of sex development. J. Pediatr. Urol. 8 (2012), 576–584, 10.1016/j.jpurol.2012.10.012.
56. [56] Devaney, S.A., Palomaki, G.E., Scott, J.A., Bianchi, D.W., Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 306 (2011), 627–636, 10.1001/jama.2011.1114.
57. [57] Costa, J.M., Benachi, A., Gautier, E., Jouannic, J.M., Ernault, P., Dumez, Y., First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat. Diagn. 21 (2001), 1070–1074.
58. [58] Rijnders, R.J., van der Schoot, C.E., Bossers, B., de Vroede, M.A., Christiaens, G.C., Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet. Gynecol. 98 (2001), 374–378.
59. [59] Odeh, M., Granin, V., Kais, M., Ophir, E., Bornstein, J., Sonographic fetal sex determination. Obstet. Gynecol. Surv. 64 (2009), 50–57, 10.1097/OGX.0b013e318193299b.
60. [60] Emerson, D.S., Felker, R.E., Brown, D.L., The sagittal sign. An early second trimester sonographic indicator of fetal gender. J. Ultrasound Med. 8 (1989), 293–297.
61. [61] Efrat, Z., Akinfenwa, O.O., Nicolaides, K.H., First-trimester determination of fetal gender by ultrasound. Ultrasound Obstet. Gynecol. 13 (1999), 305–307, 10.1046/j.1469-0705.1999.13050305.x.
62. [62] Efrat, Z., Perri, T., Ramati, E., Tugendreich, D., Meizner, I., Fetal gender assignment by first-trimester ultrasound. Ultrasound Obstet. Gynecol. 27 (2006), 619–621, 10.1002/uog.2674.
63. [63] Finning, K.M., Chitty, L.S., Non-invasive fetal sex determination: impact on clinical practice. Semin. Fetal Neonatal Med. 13 (2008), 69–75, 10.1016/j.siny.2007.12.007.
64. [64] Hill, M., Taffinder, S., Chitty, L.S., Morris, S., Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England. Prenat. Diagn. 31 (2011), 267–273, 10.1002/pd.2680.
65. [65] Lench, N., Barrett, A., Fielding, S., McKay, F., Hill, M., Jenkins, L., et al. The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made. Prenat. Diagn. 33 (2013), 555–562, 10.1002/pd.4124.
66. [66] Chitty, L.S., Griffin, D.R., 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. 37 (2011), 283–289, 10.1002/uog.8893.
67. [67] Bellus, G.A., Hefferon, T.W., Ortiz de Luna, R.I., Hecht, J.T., Horton, W.A., Machado, M., et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am. J. Hum. Genet. 56 (1995), 368–373.
68. [68] Brook, J.D., McCurrach, M.E., Harley, H.G., Buckler, A.J., Church, D., Aburatani, H., et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell, 69, 1992, 385.
69. [69] Amicucci, P., Gennarelli, M., Novelli, G., Dallapiccola, B., Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin. Chem. 46 (2000), 301–302.
70. [70] González-González, M.C., García-Hoyos, M., Trujillo, M.J., 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. 22 (2002), 946–948, 10.1002/pd.439.
71. [71] González-González, M.C., Trujillo, M.J., Rodríguez de Alba, M., García-Hoyos, M., Lorda-Sánchez, I., Díaz-Recasens, J., et al. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat. Diagn. 23 (2003), 232–234, 10.1002/pd.570.
72. [72] González-González, M.C., Garcia-Hoyos, M., Trujillo-Tiebas, M.J., Bustamante Aragonés, A., Rodriguez de Alba, M., Diego Alvarez, D., et al. Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease. J. Assist. Reprod. Genet. 25 (2008), 477–481, 10.1007/s10815-008-9256-8.
73. [73] Bustamante-Aragones, A., Gonzalez-Gonzalez, C., de Alba, M.R., Ainse, E., Ramos, C., Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art. Expert Rev. Mol. Diagn. 10 (2010), 197–205, 10.1586/erm.09.86.
74. [74] van den Oever, J.M.E., Bijlsma, E.K., Feenstra, I., Muntjewerff, N., Mathijssen, I.B., Bakker, E., et al. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma. Prenat. Diagn. 35 (2015), 945–949, 10.1002/pd.4593.
75. [75] Hill, M., Twiss, P., Verhoef, T.I., 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. 35 (2015), 950–958, 10.1002/pd.4585.
76. [76] Nasis, O., Thompson, S., Hong, T., Sherwood, M., Radcliffe, S., Jackson, L., et al. Improvement in sensitivity of allele-specific PCR facilitates reliable noninvasive prenatal detection of cystic fibrosis. Clin. Chem. 50 (2004), 694–701, 10.1373/clinchem.2003.025981.
77. [77] Bustamante-Aragones, A., Gallego-Merlo, J., Trujillo-Tiebas, M.J., de Alba, M.R., Gonzalez-Gonzalez, C., Glover, G., et al. New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma. J. Cyst. Fibros. 7 (2008), 505–510, 10.1016/j.jcf.2008.05.006.
78. [78] Chiu, R.W.K., Lau, T.K., Cheung, P.T., Gong, Z.Q., Leung, T.N., Lo, Y.M.D., Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin. Chem. 48 (2002), 778–780.
79. [79] Chiu, R.W.K., Lau, T.K., Leung, T.N., Chow, K.C.K., Chui, D.H.K., Lo, Y.M.D., Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 360 (2002), 998–1000.
80. [80] Tsui, N.B.Y., Kadir, R.A., Chan, K.C.A., Chi, C., Mellars, G., Tuddenham, E.G., et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 117 (2011), 3684–3691, 10.1182/blood-2010-10-310789.
81. [81] Gu, W., Koh, W., Blumenfeld, Y.J., El-Sayed, Y.Y., Hudgins, L., Hintz, S.R., et al. Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. Genet. Med. 16 (2014), 564–567, 10.1038/gim.2013.194.
82. [82] Lv, W., Wei, X., Guo, R., Liu, Q., Zheng, Y., Chang, J., et al. Non-invasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART). Clin. Chem. 61 (2015), 172–181, 10.1373/clinchem.2014.229328.
83. [83] New, M.I., Tong, Y.K., Yuen, T., Jiang, P., Pina, C., Chan, K.C.A., et al. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J. Clin. Endocrinol. Metab. 99 (2014), E1022–E1030, 10.1210/jc.2014-1118.
84. [84] Drury, S., Lo, K.K., Boustred, C., Gibson, N., McKay, F., Mason, S., et al. Non-invasive prenatal diagnosis for congenital adrenal hyperplasia in a clinically accredited laboratory. Prenat. Diagn., 2015, 27–109.
85. [85] Ma, D., Ge, H., Li, X., Jiang, T., Chen, F., Zhang, Y., et al. Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing. Gene 544 (2014), 252–258, 10.1016/j.gene.2014.04.055.
86. [86] Lam, K.-W.G., Jiang, P., Liao, G.J.W., Chan, K.C.A., Leung, T.Y., Chiu, R.W.K., et al. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia. Clin. Chem. 58 (2012), 1467–1475, 10.1373/clinchem.2012.189589.
87. [87] Yoo, S.-K., Lim, B.C., Byeun, J., Hwang, H., Kim, K.J., Hwang, Y.S., et al. Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus. Clin. Chem. 61 (2015), 829–837, 10.1373/clinchem.2014.236380.
88. [88] You, Y., Sun, Y., Li, X., Li, Y., Wei, X., Chen, F., et al. Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease. Genet. Med. 16 (2014), 594–600, 10.1038/gim.2013.197.
89. [89] Meng, M., Li, X., Ge, H., Chen, F., Han, M., Zhang, Y., et al. Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness. Genet. Med. 16 (2014), 972–976, 10.1038/gim.2014.51.
90. [90] Liao, G.J.W., Lun, F.M.F., Zheng, Y.W.L., Chan, K.C.A., Leung, T.Y., Lau, T.K., et al. Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles. Clin. Chem. 57 (2011), 92–101, 10.1373/clinchem.2010.154336.
91. [91] Kitzman, J.O., Snyder, M.W., Ventura, M., Lewis, A.P., Qiu, R., Simmons, L.E., et al. Noninvasive whole-genome sequencing of a human fetus. Sci. Transl. Med., 4, 2012, 137ra76, 10.1126/scitranslmed.3004323.
92. [92] Song, Y., Liu, C., Qi, H., Zhang, Y., Bian, X., Liu, J., Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat. Diagn. 33 (2013), 700–706, 10.1002/pd.4160.
93. [93] Zhang, H., Gao, Y., Jiang, F., Fu, M., Yuan, Y., Guo, Y., et al. Noninvasive prenatal testing for trisomy 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet. Gynecol. 45 (2015), 530–538, 10.1002/uog.14792.
94. [94] Minear, M.A., Lewis, C., Pradhan, S., Chandrasekharan, S., Global perspectives on clinical adoption of NIPT. Prenat. Diagn. 35 (2015), 959–967, 10.1002/pd.4637.
95. [95] Gil, M.M., Quezada, M.S., Revello, R., Akolekar, R., Nicolaides, K.H., Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet. Gynecol. 45 (2015), 249–266, 10.1002/uog.14791.
96. [96] Norton, M.E., Jacobsson, B., Swamy, G.K., Laurent, L.C., Ranzini, A.C., Brar, H., et al. Cell-free DNA analysis for noninvasive examination of trisomy. N. Engl. J. Med. 372 (2015), 1589–1597, 10.1056/NEJMoa1407349.
97. [97] Lo, K.K., Boustred, C., Chitty, L.S., Plagnol, V., RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy. Bioinformatics 30 (2014), 2965–2967, 10.1093/bioinformatics/btu419.
98. [98] Straver, R., Sistermans, E.A., Reinders, M.J.T., Introducing WISECONDOR for noninvasive prenatal diagnostics. Expert Rev. Mol. Diagn. 14 (2014), 513–515, 10.1586/14737159.2014.919855.
99. [99] Straver, R., Sistermans, E.A., Holstege, H., Visser, A., Oudejans, C.B.M., Reinders, M.J.T., WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme. Nucleic Acids Res., 42, 2014, e31, 10.1093/nar/gkt992.
100. [100] Boon, E.M.J., Faas, B.H.W., Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies. Prenat. Diagn. 33 (2013), 563–568, 10.1002/pd.4111.
101. [101] Nicolaides, K.H., 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. 33 (2013), 575–579, 10.1002/pd.4103.
102. [102] 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. 32 (2012), 1233–1241, 10.1002/pd.3993.
103. [103] Juneau, K., Bogard, P.E., Huang, S., Mohseni, M., Wang, E.T., Ryvkin, P., et al. Microarray-based cell-free DNA analysis improves noninvasive prenatal testing. Fetal Diagn. Ther. 36 (2014), 282–286, 10.1159/000367626.
104. [104] Bianchi, D.W., Parker, R.L., Wentworth, J., Madankumar, R., Saffer, C., Das, A.F., et al. DNA sequencing versus standard prenatal aneuploidy screening. N. Engl. J. Med. 370 (2014), 799–808, 10.1056/NEJMoa1311037.
105. [105] Leung, T.Y., Qu, J.Z.Z., Liao, G.J.W., Jiang, P., Cheng, Y.K.Y., Chan, K.C.A., et al. Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing. Prenat. Diagn. 33 (2013), 675–681, 10.1002/pd.4132.
106. [106] Mennuti, M.T., Cherry, A.M., Morrissette, J.J.D., Dugoff, L., 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, 10.1016/j.ajog.2013.03.027.
107. [107] Futch, T., Spinosa, J., Bhatt, S., de Feo, E., Rava, R.P., Sehnert, A.J., Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat. Diagn. 33 (2013), 569–574, 10.1002/pd.4123.
108. [108] Lau, T.K., Jiang, F.M., Stevenson, R.J., Lo, T.K., Chan, L.W., Chan, M.K., et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat. Diagn. 33 (2013), 602–608, 10.1002/pd.4076.
109. [109] Dugo, N., Padula, F., Mobili, L., Brizzi, C., D'Emidio, L., Cignini, P., et al. Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre. J. Prenat. Med. 8 (2014), 31–35.
110. [110] Chen, C., Cram, D.S., Xie, F., Wang, P., Xu, X., Li, H., et al. A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis. Reprod. Biomed. Online 29 (2014), 136–139, 10.1016/j.rbmo.2014.03.017.
111. [111] Kalousek, D.K., Vekemans, M., Confined placental mosaicism. J. Med. Genet. 33 (1996), 529–533.
112. [112] Benn, P., Cuckle, H., Pergament, E., Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet. Gynecol. 42 (2013), 15–33, 10.1002/uog.12513.
113. [113] Grati, F.R., Malvestiti, F., Ferreira, J.C.P.B., Bajaj, K., Gaetani, E., Agrati, C., et al. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet. Med. 16 (2014), 620–624, 10.1038/gim.2014.3.
114. [114] Osborne, C.M., Hardisty, E., Devers, P., Kaiser-Rogers, K., Hayden, M.A., Goodnight, W., et al. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat. Diagn. 33 (2013), 609–611, 10.1002/pd.4100.
115. [115] Dharajiya, N., Monroe, T., Farkas, D.H., Boomer, T., Wardrop, J., Jesiolowski, J., Almasri, E., Zhao, C., Deciu, C., Saldiva, J., Adventitious detection of maternal neoplasia during noninvasive prenatal testing. J. Mol. Diag. 16 (2014), 699–789.
116. [116] Bianchi, D.W., Chudova, D., Sehnert, A.J., et al. Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA 314 (2015), 162–169, 10.1001/jama.2015.7120.
117. [117] Dharajiya, N.G., Namba, A., Horiuchi, I., Miyai, S., Farkas, D.H., Almasri, E., et al. Uterine leiomyoma confounding a noninvasive prenatal test result. Prenat. Diagn. 35 (2015), 990–993, 10.1002/pd.4629.
118. [118] Hughes, V., NIPT Tests Find Cancer in Some Pregnant Women. 2015, GenomeWeb https://www.genomeweb.com/scan/nipt-tests-find-cancer-some-pregnant-women accessed 22.09.15.
119. [119] Bianchi, D.W., Pregnancy: prepare for unexpected prenatal test results. Nature 522 (2015), 29–30, 10.1038/522029a.
120. [120] 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. 60 (2014), 251–259, 10.1373/clinchem.2013.215145.
121. [121] Flowers, N., Kelley, J., Sigurjonsson, S., Bruno, D.L., Pertile, M.D., Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy. Prenat. Diagn. 35 (2015), 986–989, 10.1002/pd.4636.
122. [122] Bianchi, D.W., Wilkins-Haug, L., Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?. Clin. Chem. 60 (2014), 78–87, 10.1373/clinchem.2013.202663.
123. [123] Willems, P.J., Dierickx, H., Vandenakker, E., Bekedam, D., Segers, N., Deboulle, K., et al. The first 3,000 non-invasive prenatal tests (NIPT) with the harmony test in Belgium and the Netherlands. Facts Views Vis. Obgyn. 6 (2014), 7–12.
124. [124] Palomaki, G.E., Kloza, E.M., Lambert-Messerlian, G.M., van den Boom, D., Ehrich, M., Deciu, C., et al. Circulating cell free DNA testing: are some test failures informative?. Prenat. Diagn. 35 (2015), 289–293, 10.1002/pd.4541.
125. [125] 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. 124 (2014), 210–218, 10.1097/AOG.0000000000000363.
126. [126] American College of Obstetricians and Gynecologists, Committee opinion No. 640: cell-free DNA screening for fetal aneuploidy. Obstet. Gynecol. 126 (2015), e31–e37, 10.1097/01.AOG.0000471172.63927.b6.
127. [127] Wapner, R.J., Martin, C.L., Levy, B., Ballif, B.C., Eng, C.M., Zachary, J.M., et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N. Engl. J. Med. 367 (2012), 2175–2184, 10.1056/NEJMoa1203382.
128. [128] Peters, D., Chu, T., Yatsenko, S.A., Hendrix, N., Hogge, W.A., Surti, U., et al. Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. N. Engl. J. Med. 365 (2011), 1847–1848, 10.1056/NEJMc1106975.
129. [129] Chu, T., Yeniterzi, S., Rajkovic, A., Hogge, W.A., Dunkel, M., Shaw, P., et al. High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm. Prenat. Diagn. 34 (2014), 469–477, 10.1002/pd.4331.
130. [130] Vora, N.L., O'Brien, B.M., Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution. Obstet. Gynecol. 123 (2014), 1097–1099, 10.1097/AOG.0000000000000237.
131. [131] Vora, N.L., O'Brien, B.M., In reply. Obstet. Gynecol. 124 (2014), 379–380, 10.1097/AOG.0000000000000401.
132. [132] Bombard, A.T., Farkas, D.H., Monroe, T.J., Saldivar, J.-S., Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution. Obstet. Gynecol., 124, 2014, 379, 10.1097/AOG.0000000000000400.
133. [133] Helgeson, J., Wardrop, J., Boomer, T., Almasri, E., Paxton, W.B., Saldivar, J.S., et al. Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing. Prenat. Diagn. 35 (2015), 999–1004, 10.1002/pd.4640.
134. [134] Wapner, R.J., Babiarz, J.E., Levy, B., Stosic, M., Zimmermann, B., Sigurjonsson, S., et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am. J. Obstet. Gynecol. 212 (2015), 332.e1–332.e9, 10.1016/j.ajog.2014.11.041.
135. [135] K. Lo, E. Karampetsou, C. Boustred, F. McKay, S. Mason, M. Hill, et al., Detection of sub-chromosomal abnormalities by sequencing cell-free DNA in maternal plasma, Am. J. Hum. Genet. submitted (n.d.).
136. [136] Yatsenko, S.A., Peters, D.G., Saller, D.N., Chu, T., Clemens, M., Rajkovic, A., Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. Genet. Med. 17 (2015), 836–838, 10.1038/gim.2014.197.
137. [137] Gross, S., Stosic, M., Norvez, A., Dhamankar, R., Jinnett, K., Demko, Z., et al. Clinical experience with an SNP-based noninvasive prenatal test for 22q11.2 deletion syndrome. Prenat. Diagn. 35:Suppl. 1 (2015), 1–26.
138. [138] Skirton, H., Patch, C., Factors affecting the clinical use of non-invasive prenatal testing: a mixed methods systematic review. Prenat. Diagn. 33 (2013), 532–541.
139. [139] Deans, Z., Newson, A.J., Should non-invasiveness change informed consent procedures for prenatal diagnosis?. Health Care Anal. 19 (2011), 122–132, 10.1007/s10728-010-0146-8.
140. [140] Deans, Z., Newson, A.J., Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection. J. Med. Ethics 38 (2012), 614–618, 10.1136/medethics-2011-100180.
141. [141] de Jong, A., Dondorp, W.J., Frints, S.G.M., de Die-Smulders, C.E.M., de Wert, G.M.W.R., Advances in prenatal screening: the ethical dimension. Nat. Rev. Genet. 12 (2011), 657–663, 10.1038/nrg3036.
142. [142] Greely, H.T., Get ready for the flood of fetal gene screening. Nature 469 (2011), 289–291, 10.1038/469289a.
143. [143] Smith, R.P., Lombaard, H., Soothill, P.W., The obstetrician's view: ethical and societal implications of non-invasive prenatal diagnosis. Prenat. Diagn. 26 (2006), 631–634, 10.1002/pd.1476.
144. [144] Lewis, C., Silcock, C., Chitty, L.S., Non-invasive prenatal testing for Down's syndrome: pregnant women's views and likely uptake. Public Health Genomics 16 (2013), 223–232, 10.1159/000353523.
145. [145] 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. 23 (2014), 1012–1021, 10.1007/s10897-014-9725-4.
146. [146] 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 121 (2014), 582–594, 10.1111/1471-0528.12579.
147. [147] Allyse, M., Sayres, L.C., Goodspeed, T.A., Cho, M.K., Attitudes towards non-invasive prenatal testing for aneuploidy among US adults of reproductive age. J. Perinatol. 34 (2014), 429–434, 10.1038/jp.2014.30.
148. [148] van Schendel, R.V., Dondorp, W.J., Timmermans, D.R.M., van Hugte, E.J.H., de Boer, A., Pajkrt, E., et al. NIPT-based screening for Down syndrome and beyond: what do pregnant women think?. Prenat. Diagn. 35 (2015), 598–604, 10.1002/pd.4579.
149. [149] Lewis, C., Hill, M., Chitty, L.S., Non-invasive prenatal diagnosis for single gene disorders: experience of patients. Clin. Genet. 85 (2014), 336–342, 10.1111/cge.12179.
150. [150] Lewis, C., Hill, M., Skirton, H., Chitty, L.S., Fetal sex determination using cell-free fetal DNA: service users’ experiences of and preferences for service delivery. Prenat. Diagn. 32 (2012), 735–741, 10.1002/pd.3893.
151. [151] Agatisa, P.K., Mercer, M.B., Leek, A.C., Smith, M.B., Philipson, E., Farrell, R.M., A first look at women's perspectives on noninvasive prenatal testing to detect sex chromosome aneuploidies and microdeletion syndromes. Prenat. Diagn. 35 (2015), 692–698, 10.1002/pd.4594.
152. [152] Devers, P.L., Cronister, A., Ormond, K.E., Facio, F., Brasington, C.K., Flodman, P., Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J. Genet. Couns. 22 (2013), 291–295, 10.1007/s10897-012-9564-0.
153. [153] Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D.W., 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. 23 (2015), 1438–1450, 10.1038/ejhg.2015.57.
154. [154] Soothill, P.W., Non-invasive prenatal testing for chromosomal abnormality using maternal plasma DNA. Scientific Impact Paper No. 15, 2014 https://www.google.co.uk/search?q=Non-Invasive+Prenatal+Testing+for+Chromosomal+Abnormality+Using+Maternal+Plasma+DNA+rcog&ie=utf-8&oe=utf-8&gws_rd=cr&ei=5PkvVc2HJomnsAGYrIGwBg accessed 16.04.15.
155. [155] Cuckle, H., Benn, P., Pergament, E., Maternal cfDNA screening for Down syndrome: a cost sensitivity analysis. Prenat. Diagn. 33 (2013), 636–642, 10.1002/pd.4157.
156. [156] Morris, S., Karlsen, S., Chung, N., Hill, M., Chitty, L.S., Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service. PLoS One, 9, 2014, e93559, 10.1371/journal.pone.0093559.
157. [157] Gratacós, E., Nicolaides, K., Clinical perspective of cell-free DNA testing for fetal aneuploidies. Fetal Diagn. Ther. 35 (2014), 151–155, 10.1159/000362940.
158. [158] 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, 14, 2014, 229, 10.1186/1471-2393-14-229.
159. [159] Lewis, C., Hill, M., Skirton, H., Chitty, L.S., Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy. Eur. J. Hum. Genet. 24 (2016), 809–816.
160. [160] McCombs, M.E., Shaw, D.L., The evolution of agenda-setting research: twenty-five years in the marketplace of ideas. J. Commun. 43 (1993), 58–67, 10.1111/j.1460-2466.1993.tb01262.x.
161. [161] Lewis, C., Choudhury, M., Chitty, L.S., “Hope for safe prenatal gene tests”. A content analysis of how the UK press media are reporting advances in non-invasive prenatal testing. Prenat. Diagn. 35 (2014), 420–427, 10.1002/pd.4488.
162. [162] Skirton, H., Goldsmith, L., Jackson, L., Lewis, C., Chitty, L.S., Non-invasive prenatal testing for aneuploidy: a systematic review of Internet advertising to potential users by commercial companies and private health providers. Prenat. Diagn. 35 (2015), 1167–1175, 10.1002/pd.4673.
163. [163] Ellard, S., Kivuva, E., Turnpenny, P., Stals, K., Johnson, M., Xie, W., et al. An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur. J. Hum. Genet. 23 (2015), 401–404, 10.1038/ejhg.2014.120.
164. [164] Snyder, M., Simmons, L., Kitzman, J., Santillan, D., Santillan, D., Gammill, H., et al. Noninvasive fetal genome sequencing: a primer. Prenat. Diagn. 33 (2013), 547–554.
165. [165] Wou, K., Feinberg, J.L., Wapner, R.J., Simpson, J.L., Cell-free DNA versus intact fetal cells for prenatal genetic diagnostics: what does the future hold?. Expert Rev. Mol. Diagn. 15 (2015), 989–998, 10.1586/14737159.2015.1051529.