Clinical implementation of NIPT - technical and biological challenges

Clinical Genetics

Volumn 89, Issue 5, 2016, Pages 523-530

  Brady, P ^a   Brison, N ^a   Van Den Bogaert, K ^a   de Ravel, T ^a   Peeters, H ^a   Van Esch, H ^a   Devriendt, K ^a   Legius, E ^a   Vermeesch, J R ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Cell free DNA, (cfDNA); Cell free fetal DNA, (cffDNA); Copy number variation, (CNV); Genome sequencing; Mosaicism; Non invasive prenatal testing, (NIPT); Prenatal diagnosis

Indexed keywords

AMNIOCENTESIS; ANEUPLOIDY; CELL FREE SYSTEM; CHORION VILLUS SAMPLING; CHROMOSOME ANALYSIS; CONFINED PLACENTAL MOSAICISM; COPY NUMBER VARIATION; DNA FINGERPRINTING; EMBRYO DEVELOPMENT; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FETUS GROWTH; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; KARYOTYPING; MEIOSIS; META ANALYSIS (TOPIC); MITOSIS; MOSAICISM; MULTIPLE PREGNANCY; NON INVASIVE PRENATAL TESTING; NON INVASIVE PROCEDURE; PLACENTA TISSUE; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SEX CHROMOSOME ABERRATION; FEMALE; FETAL DISEASES; GENETICS; GENOME-WIDE ASSOCIATION STUDY; PREGNANCY; PROCEDURES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY;

DNA;

ANEUPLOIDY; DNA; FEMALE; FETAL DISEASES; GENOME-WIDE ASSOCIATION STUDY; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84943356995     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12598     Document Type: Review

References (106)

1. Chiu RW, Akolekar R, Zheng YW et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011: 342: c7401.
2. Ehrich M, Deciu C, Zwiefelhofer T et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011: 204 (3): 205-211.
3. Palomaki GE, Kloza EM, Lambert-Messerlian GM et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011: 13 (11): 913-920.
4. Sehnert AJ, Rhees B, Comstock D et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011: 57 (7): 1042-1049.
5. 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 (4): 322-325.
6. Bianchi DW, Platt LD, Goldberg JD et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012: 119 (5): 890-901.
7. Jiang F, Ren J, Chen F et al. Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics 2012: 5: 57.
8. Lau TK, Chen F, Pan X et al. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med 2012: 25 (8): 1370-1374.
9. Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012: 207 (5): 374-376.
10. Norton ME, Brar H, Weiss J et al. Non-invasive chromosomal evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012: 207 (2): 137-138.
11. 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 (4): 319.
12. Zimmermann B, Hill M, Gemelos G et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012: 32 (13): 1233-1241.
13. Guex N, Iseli C, Syngelaki A et al. A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood. Prenat Diagn 2013: 33 (7): 707-710.
14. Liang D, Lv W, Wang H et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013: 33 (5): 409-415.
15. 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 (6): 575-579.
16. Song Y, Liu C, Qi H et al. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013: 33 (7): 700-706.
17. Stumm M, Entezami M, Haug K et al. Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. Prenat Diagn 2014: 34 (2): 185-191.
18. Verweij EJ, Jacobsson B, van Scheltema PA et al. European non-invasive trisomy evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing. Prenat Diagn 2013: 33 (10): 996-1001.
19. McCullough RM, Almasri EA, Guan X et al. Non-invasive prenatal chromosomal aneuploidy testing - clinical experience: 100, 000 clinical samples. PLoS One 2014: 9 (10): e109173.
20. Zhou Q, Pan L, Chen S et al. Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience. Prenat Diagn 2014: 34 (11): 1061-1065.
21. Bianchi DW, Parker RL, Wentworth J et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014: 370 (9): 799-808.
22. Dar P, Curnow KJ, Gross SJ et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014: 211 (5): 527.
23. Pergament E, Cuckle H, Zimmermann B et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol 2014: 124 (2 Pt 1): 210-218.
24. Rabinowitz M, Valenti E, Pettersen B et al. Noninvasive aneuploidy detection by multiplexed amplification and sequencing of polymorphic loci. Obstet Gynecol 2014: 123 (Suppl 1): 167S.
25. Porreco RP, Garite TJ, Maurel K et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol 2014: 211 (4): 365.
26. Bayindir B, Dehaspe L, Brison N, et al. Non-invasive prenatal testing (NIPT) using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. Eur J Hum Genet. Epub 2015 14 January.
27. Zhao C, Tynan J, Ehrich M et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem 2015: 61 (4): 608-616.
28. Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 2014: 35 (3): 156-173.
29. Dan S, Wang W, Ren J et al. 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 2012: 32 (13): 1225-1232.
30. Lau TK, Chan MK, Lo PS et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience. J Matern Fetal Neonatal Med 2012: 25 (10): 1856-1859.
31. Fairbrother G, Johnson S, Musci TJ, Song K. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat Diagn 2013: 33 (6): 580-583.
32. Futch T, Spinosa J, Bhatt S et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013: 33 (6): 569-574.
33. Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013: 42 (1): 34-40.
34. Benn P, Borell A, Chiu R et al. Position statement from the aneuploidy screening committee on behalf of the board of the international society for prenatal diagnosis. Prenat Diagn 2013: 33 (7): 622-629.
35. Gregg AR, Gross SJ, Best RG et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013: 15 (5): 395-398.
36. Langlois S, Brock JA, Wilson RD et al. Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. J Obstet Gynaecol Can 2013: 35 (2): 177-183.
37. Royal College of Obstetricians and Gynaecologists. Non-invasive prenatal testing for chromosomal abnormality using maternal plasma DNA. Scientific Impact Paper No 15, 2014, https://www.rcog.org.uk/en/guidelines-research-services/guidelines/sip15/.
38. American College of Obstetricians and Gynecologists. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012: 120 (6): 1532-1534.
39. Zhang H, Gao Y, Jiang F, et al. Noninvasive prenatal testing for trisomy 21, 18 and 13 - clinical experience from 146, 958 pregnancies. Ultrasound Obstet Gynecol. Epub 2015 19 January
40. Hudecova I, Sahota D, Heung MM et al. Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies. PLoS One 2014: 9 (2): e88484.
41. Jensen TJ, Dzakula Z, Deciu C, van den Boom D, Ehrich M. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem 2012: 58 (7): 1148-1151.
42. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013: 92 (2): 167-176.
43. Yu SC, Jiang P, Choy KW et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One 2013: 8 (4): e60968.
44. Straver R, Sistermans EA, Holstege H et al. WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme. Nucleic Acids Res 2014: 42 (5): e31.
45. Chen S, Lau TK, Zhang C et al. A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn 2013: 33 (6): 584-590.
46. Rampasek L, Arbabi A, Brudno M. Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing. Bioinformatics 2014: 30 (12): i212-i218.
47. Bayindir B, Dehaspe L, Brison N, et al. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. Eur J Hum Genet. Epub 2015 14 January
48. Peters D, Chu T, Yatsenko SA et al. Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. N Engl J Med 2011: 365 (19): 1847-1848.
49. Lau TK, Jiang FM, Stevenson RJ et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn 2013: 33 (6): 602-608.
50. Lau TK, Cheung SW, Lo PS et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol 2014: 43 (3): 254-264.
51. Chu T, Yeniterzi S, Rajkovic A et al. High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm. Prenat Diagn 2014: 34 (5): 469-477.
52. Rabinowitz M, Savage M, Pettersen B, et al. Noninvasive Cell-Free DNA-Based Prenatal Detection of Microdeletions Using Single Nucleotide Polymorphism-Targeted Sequencing. Obstet Gynecol 2014: 123 (Suppl 1): 167S.
53. Verweij EJ, de Boer MA, Oepkes D. Non-invasive prenatal testing for Trisomy 13: more harm than good? Ultrasound Obstet Gynecol 2014: 44 (1): 112-114.
54. Lestou VS, Kalousek DK. Confined placental mosaicism and intrauterine fetal growth. Arch Dis Child Fetal Neonatal Ed 1998: 79 (3): F223-F226.
55. Wilkins-Haug L, Quade B, Morton CC. Confined placental mosaicism as a risk factor among newborns with fetal growth restriction. Prenat Diagn 2006: 26 (5): 428-432.
56. Wolstenholme J, Rooney DE, Davison EV. Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey. Prenat Diagn 1994: 14 (5): 345-361.
57. Eggermann T, Soellner L, Buiting K, Kotzot D. Mosaicism and uniparental disomy in prenatal diagnosis. Trends Mol Med 2015: 21 (2): 77-87.
58. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006: 1: 42.
59. Visootsak J, Graham JM Jr. Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev 2009: 15 (4): 328-332.
60. Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM Jr. Behavioral phenotype of sex chromosome aneuploidies: 48, XXYY, 48, XXXY, and 49, XXXXY. Am J Med Genet A 2007: 143A (11): 1198-1203.
61. Boyd PA, Loane M, Garne E, Khoshnood B, Dolk H. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. Eur J Hum Genet 2011: 19 (2): 231-234.
62. Nicolaides KH, Musci TJ, Struble CA, Syngelaki A, Gil MM. Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther 2014: 35 (1): 1-6.
63. Samango-Sprouse C, Banjevic M, Ryan A et al. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn 2013: 33 (7): 643-649.
64. Jeon KC, Chen LS, Goodson P. Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature. Genet Med 2012: 14 (1): 27-38.
65. Wapner RJ, Martin CL, Levy B et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012: 367 (23): 2175-2184.
66. Armengol L, Nevado J, Serra-Juhe C et al. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum Genet 2012: 131 (3): 513-523.
67. Lee CN, Lin SY, Lin CH et al. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG 2012: 119: 614-625.
68. 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 (3): 265-271.
69. Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH. Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal Diagn Ther 2014: 35 (3): 174-184.
70. Norton ME, Jelliffe-Pawlowski LL, Currier RJ. Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing. Obstet Gynecol 2014: 124 (5): 979-986.
71. Wapner RJ, Babiarz JE, Levy B et al. Expanding the scope of non-invasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol 2015: 212 (3): 332.e1-332.e9.
72. Alberry M, Maddocks D, Jones M et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn 2007: 27 (5): 415-418.
73. Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counseling, 3rd edn. UK: Oxford University Press, 2004.
74. Johnson A, Wapner RJ, Davis GH, Jackson LG. Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. Obstet Gynecol 1990: 75 (4): 573-577.
75. Johnson A, Wapner RJ. Mosaicism: implications for postnatal outcome. Curr Opin Obstet Gynecol 1997: 9 (2): 126-135.
76. Kalousek DK, Langlois S, Barrett I et al. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 1993: 52 (1): 8-16.
77. Langlois S, Yong PJ, Yong SL et al. Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism. Prenat Diagn 2006: 26 (6): 548-558.
78. Robinson WP, Barrett IJ, Bernard L et al. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 1997: 60 (4): 917-927.
79. Ledbetter DH, Zachary JM, Simpson JL et al. Cytogenetic results from the U.S. collaborative study on CVS. Prenat Diagn 1992: 12 (5): 317-345.
80. Hahnemann JM, Vejerslev LO. Accuracy of cytogenetic findings on chorionic villus sampling (CVS)--diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. Prenat Diagn 1997: 17 (9): 801-820.
81. Hahnemann JM, Vejerslev LO. European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. Am J Med Genet 1997: 70 (2): 179-187.
82. Srebniak MI, Diderich KE, Noomen P et al. Abnormal NIPT results concordant with the karyotype of the cytotrophoblast, but not reflecting the abnormal fetal karyotype. Ultrasound Obstet Gynecol 2014: 44 (1): 109-111.
83. Faas BH, de Ligt J, Janssen I et al. 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 2012: 12 (Suppl 1): S19-S26.
84. Gao Y, Stejskal D, Jiang F, Wang W. False-negative trisomy 18 non-invasive prenatal test result due to 48, XXX, +18 placental mosaicism. Ultrasound Obstet Gynecol 2014: 43 (4): 477-478.
85. Wang Y, Chen Y, Tian F et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014: 60 (1): 251-259.
86. Wang Y, Zhu J, Chen Y et al. Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing. Prenat Diagn 2013: 33 (12): 1207-1210.
87. Mennuti MT, Cherry AM, Morrissette JJ, Dugoff L. Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am J Obstet Gynecol 2013: 209 (5): 415-419.
88. Hall AL, Drendel HM, Verbrugge JL et al. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet Med 2013: 15 (9): 729-732.
89. Pan M, Li FT, Li Y 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 (6): 598-601.
90. Choi H, Lau TK, Jiang FM et al. Fetal aneuploidy screening by maternal plasma DNA sequencing: 'false positive' due to confined placental mosaicism. Prenat Diagn 2013: 33 (2): 198-200.
91. Canick JA, Kloza EM, Lambert-Messerlian GM et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn 2012: 32 (8): 730-734.
92. Huang X, Zheng J, Chen M et al. Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies. Prenat Diagn 2014: 34 (4): 335-340.
93. Lau TK, Jiang F, Chan MK et al. Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies. J Matern Fetal Neonatal Med 2013: 26 (4): 434-437.
94. Bevilacqua E, Gil MM, Nicolaides KH et al. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound Obstet Gynecol 2015: 45 (1): 61-66.
95. Attilakos G, Maddocks DG, Davies T et al. Quantification of free fetal DNA in multiple pregnancies and relationship with chorionicity. Prenat Diagn 2011: 31 (10): 967-972.
96. Qu JZ, Leung TY, Jiang P et al. Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis. Clin Chem 2013: 59 (2): 427-435.
97. Gromminger S, Yagmur E, Erkan S et al. Fetal aneuploidy detection by cell-free DNA sequencing for multiple pregnancies and quality issues with vanishing twins. J Clin Med 2014: 3 (3): 679-692.
98. Curnow KJ, Wilkins-Haug L, Ryan A et al. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. Am J Obstet Gynecol 2015: 212 (1): 79.e1-79.e9.
99. Wang S, Huang S, Ma L et al. Maternal X chromosome copy number variations are associated with discordant fetal sex chromosome aneuploidies detected by noninvasive prenatal testing. Clin Chim Acta 2015: 444: 113-116.
100. Russell LM, Strike P, Browne CE, Jacobs PA. X chromosome loss and ageing. Cytogenet Genome Res 2007: 116 (3): 181-185.
101. Osborne CM, Hardisty E, Devers P et al. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn 2013: 33 (6): 609-611.
102. Vandenberghe P, Wlodarska I, Tousseyn T et al. Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin lymphoma by sequencing of circulating cell-free DNA. Lancet Haematol 2014: 2 (2): e55-e65.
103. Fan HC, Gu W, Wang J et al. Non-invasive prenatal measurement of the fetal genome. Nature 2012: 487 (7407): 320-324.
104. Lo YM, Chan KC, Sun H et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010: 2 (61): 61ra91.
105. Kitzman JO, Snyder MW, Ventura M et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012: 4 (137): 137ra76.
106. Vanakker O, Vilain C, Janssens K et al. Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. Eur J Med Genet 2014: 57 (4): 151-156.