Non-invasive prenatal diagnosis by single molecule counting technologies

Trends in Genetics

Volumn 25, Issue 7, 2009, Pages 324-331

  Chiu, Rossa W K ^a,b   Cantor, Charles R ^c   Lo, Y M Dennis ^a,b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c SEQUENOM INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; DIAGNOSTIC ACCURACY; DNA DETERMINATION; DNA SEQUENCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MATERNAL PLASMA; MONOGENIC DISORDER; NON INVASIVE PRENATAL DIAGNOSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY 21;

ANEUPLOIDY; DNA; FEMALE; FETAL DISEASES; HUMANS; MALE; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 67649958254     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2009.05.004     Document Type: Review

References (53)

1. Walknowska J., et al. Practical and theoretical implications of fetal-maternal lymphocyte transfer. Lancet 1 (1969) 1119-1122
2. Bianchi D.W. Fetomaternal cell traffic, pregnancy-associated progenitor cells, and autoimmune disease. Best Pract. Res. Clin. Obstet. Gynaecol. 18 (2004) 959-975
3. Bianchi D.W., et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat. Diagn. 22 (2002) 609-615
4. Lo Y.M.D., et al. Presence of fetal DNA in maternal plasma and serum. Lancet 350 (1997) 485-487
5. Lo Y.M.D., 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
6. Lo Y.M.D., and Chiu R.W.K. Prenatal diagnosis: progress through plasma nucleic acids. Nat. Rev. Genet. 8 (2007) 71-77
7. Daniels G., et al. Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects. Prenat. Diagn. 29 (2009) 101-107
8. Van der Schoot C.E., et al. Non-invasive antenatal RHD typing. Transfus. Clin. Biol. 13 (2006) 53-57
9. Costa J.M., et al. New strategy for prenatal diagnosis of X-linked disorders. N. Engl. J. Med. 346 (2002) 1502
10. Wright C.F., and Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum. Reprod. Update 15 (2009) 139-151
11. Ding C., et al. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 10762-10767
12. Nasis O., et al. Improvement in sensitivity of allele-specific PCR facilitates reliable noninvasive prenatal detection of cystic fibrosis. Clin. Chem. 50 (2004) 694-701
13. Li Y., et al. Detection of paternally inherited fetal point mutations for β-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 293 (2005) 843-849
14. Tsang J.C.H., et al. Mass spectrometry-based detection of hemoglobin E mutation by allele-specific base extension reaction. Clin. Chem. 53 (2007) 2205-2209
15. Sherman S.L., et al. Epidemiology of Down syndrome. Ment. Retard. Dev. Disabil. Res. Rev. 13 (2007) 221-227
16. Wiseman F.K., et al. Down syndrome-recent progress and future prospects. Hum. Mol. Genet. 18 (2009) R75-R83
17. Malone F.D., et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N. Engl. J. Med. 353 (2005) 2001-2011
18. Chim S.S.C., 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
19. Alberry M., et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat. Diagn. 27 (2007) 415-418
20. Lo Y.M.D., et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat. Med. 13 (2007) 218-223
21. Dokras A., et al. The tumour suppressor gene maspin is differentially regulated in cytotrophoblasts during human placental development. Placenta 23 (2002) 274-280
22. Futscher B.W., et al. Role for DNA methylation in the control of cell type specific maspin expression. Nat. Genet. 31 (2002) 175-179
23. Tong Y.K., et al. Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations. Clin. Chem. 52 (2006) 2194-2202
24. Old R.W., et al. Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome. Reprod. Biomed. Online 15 (2007) 227-235
25. Chim S.S.C., et al. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21. Clin. Chem. 54 (2008) 500-511
26. Papageorgiou E.A., et al. Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Am. J. Pathol. 174 (2009) 1609-1618
27. Dhallan R., et al. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study. Lancet 369 (2007) 474-481
28. Benachi A., et al. Impact of formaldehyde on the in vitro proportion of fetal DNA in maternal plasma and serum. Clin. Chem. 51 (2005) 242-244
29. Chinnapapagari S.K., et al. Treatment of maternal blood samples with formaldehyde does not alter the proportion of circulatory fetal nucleic acids (DNA and mRNA) in maternal plasma. Clin. Chem. 51 (2005) 652-655
30. Chung G.T.Y., et al. Lack of dramatic enrichment of fetal DNA in maternal plasma by formaldehyde treatment. Clin. Chem. 51 (2005) 655-658
31. Hulten M.A., and Old R.W. Non-invasive prenatal diagnosis of Down's syndrome. Lancet 369 (2007) 1997
32. Lo Y.M.D., and Chiu R.W.K. Non-invasive prenatal diagnosis of Down's syndrome. Lancet 369 (2007) 1997
33. Vogelstein B., and Kinzler K.W. Digital PCR. Proc. Natl. Acad. Sci. U. S. A 96 (1999) 9236-9241
34. Pohl G., and Shih Ie M. Principle and applications of digital PCR. Expert Rev. Mol. Diagn. 4 (2004) 41-47
35. Lun F.M.F., et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin. Chem. 54 (2008) 1664-1672
36. Lun F.M.F., 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
37. Wang T.L., et al. Digital karyotyping. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 16156-16161
38. Lo Y.M.D., et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc. Natl. Acad. Sci. U. S. A. 104 (2007) 13116-13121
39. Fan H.C., and Quake S.R. Detection of aneuploidy with digital polymerase chain reaction. Anal. Chem. 79 (2007) 7576-7579
40. Zimmermann B.G., et al. Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?. Prenat. Diagn. 28 (2008) 1087-1093
41. Chan K.C.A., et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin. Chem. 50 (2004) 88-92
42. Voelkerding K.V., et al. Next-generation sequencing: from basic research to diagnostics. Clin. Chem. 55 (2009) 641-658
43. Chiu R.W.K., 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
44. Fan H.C., et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl. Acad. Sci. U. S. A. 105 (2008) 16266-16271
45. Bentley D.R., et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456 (2008) 53-59
46. Samura O., et al. Cell-free fetal DNA in maternal circulation after amniocentesis. Clin. Chem. 49 (2003) 1193-1195
47. Lo Y.M.D., and Chiu R.W.K. Next-generation sequencing of plasma/serum DNA: an emerging research and molecular diagnostic tool. Clin. Chem. 55 (2009) 607-608
48. Korshunova Y., et al. Massively parallel bisulphite pyrosequencing reveals the molecular complexity of breast cancer-associated cytosine-methylation patterns obtained from tissue and serum DNA. Genome Res. 18 (2008) 19-29
49. Beck J., et al. Profile of the circulating DNA in apparently healthy individuals. Clin. Chem. 55 (2009) 730-738
50. Diehl F., et al. Detection and quantification of mutations in the plasma of patients with colorectal tumors. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 16368-16373
51. Zhou W., et al. Counting alleles reveals a connection between chromosome 18q loss and vascular invasion. Nat. Biotechnol. 19 (2001) 78-81
52. Qin J., et al. Studying copy number variations using a nanofluidic platform. Nucleic Acids Res. 36 (2008) e116
53. Morrison T., et al. Nanoliter high throughput quantitative PCR. Nucleic Acids Res. 34 (2006) e123