Noninvasive prenatal diagnosis of single gene disorders through cell-free fetal DNA in maternal blood

Chinese Journal of Medical Genetics

Volumn 26, Issue 4, 2009, Pages 410-413

  Guo, Qi Wei ^a   Zhou, Yu Lin ^a  

^a Xiamen Maternity and Child Health Care Hospital   (China)

Author keywords

Cell free fetal DNA; Digital PCR; Mass spectrum; Noninvasive prenatal diagnosis; Pyrophosphorolysis activated polymerization; Real time PCR

Indexed keywords

DNA;

CELL FREE SYSTEM; GENETIC DISORDER; GENETIC PROCEDURES; HUMAN; MASS SPECTROMETRY; MATERNAL BLOOD; NON INVASIVE PROCEDURE; POLYMERASE CHAIN REACTION; POLYMERIZATION; PRENATAL DIAGNOSIS; REAL TIME POLYMERASE CHAIN REACTION; REVIEW;

DNA; FEMALE; FETAL DISEASES; GENETIC DISEASES, INBORN; HUMANS; MATERNAL-FETAL EXCHANGE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 69249102151     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2009.04.010     Document Type: Review

References (28)

1. Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet, 1997, 350: 485-487. (Pubitemid 27343304)
2. Chan KC, Zhang J, Hui AB, et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem, 2004, 50: 88-92. (Pubitemid 38125703)
3. Lo YM, Tein MS, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet, 1998, 62: 768-775.
4. Li Y, Holzgreve W, Hahn S. Size fractionation of cell-free DNA in maternal plasma and its application in noninvasive detection of fetal single gene point mutations. Methods Mol Biol, 2008, 444: 239-251.
5. Dhallan R, Au WC, Mattagajasingh S, et al. Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA, 2004, 291: 1114-1119. (Pubitemid 38541689)
6. Chung GT, Chiu RW, Chan KC, et al. Lack of dramatic enrichment of fetal DNA in material plasma by formaldehyde treatment. Clin Chem , 2005, 51: 655-658.
7. Costa JM, Benachi A, Gautier E. New strategy for prenatal diagnosis of X-linked disorders. N Engl J Med, 2002, 346: 1502.
8. Rijnders RJ, van der Schoot CE, Bossers B, et al. Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet Gynecol, 2001, 98: 374-378.
9. Finning KM, Martin PG, Soothill PW, et al. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion, 2002, 42: 1079-1085.
10. Lo YM, Hjelm NM, Fidler C, et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med, 1998, 339: 1734-1738. (Pubitemid 28555431)
11. Li Q, Luan G, Guo Q, et al. A new class of homogeneous nucleic acid probes based on specific displacement hybridization. Nucleic Acids Res, 2002, 30: E5.
12. Huang Q, Hu Q, Li Q. Identification of 8 foodborne pathogens by multicolor combinational probe coding technology in a single real-time PCR. Clin Chem, 2007, 53: 1741-1748. (Pubitemid 47509666)
13. Cheng J, Zhang Y, Li Q. Real-time PCR genotyping using displacing probes. Nucleic Acids Res, 2004, 32: e61.
14. Ruan L, Pei B, Li Q. Multicolor real-time polymerase chain reaction genotyping of six human platelet antigens using displacing probes. Transfusion, 2007, 47: 1637-1642. (Pubitemid 47300609)
15. Chiu RW, Lau TK, Leung TN, et al. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet, 2002, 360: 998-1000.
16. Ding C, Chiu RW, Lau TK, et al. MS analysis of single-nucleotide differences in circulating nucleic acids: application to noninvasive prenatal diagnosis. Proc Natl Acad Sci USA, 2004, 101: 10762-10767. (Pubitemid 38955816)
17. Deutscher MP, Kornberg A. Enzymatic synthesis of deoxyribonucleic acid. 28. The pyrophosphate exchange and pyrophosphorolysis reactions of deoxyribonucleic acid polymerase. J Biol Chem, 1969, 244: 3019-3028.
18. Liu Q, Sommer SS. Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification. Biotechniques, 2000, 29: 1072-1076, 1078, 1080. (Pubitemid 30845843)
19. Boon EM, Schlecht HB, Martin P, et al. Y chromosome detection by real time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma. Prenat Diagn, 2007, 27: 932-937. (Pubitemid 47597921)
20. Liu Q, Sommer SS. Pyrophosphorolysis by type II DNA polymerases: implications for pyrophosphorolysis-activated polymerization. Anal Biochem, 2004, 324: 22-28. (Pubitemid 37491119)
21. Li Q, Guo Q. Real-time PAP for somatic mutation detection. In mutation detection 2007: IX international symposium on mutations in the genome. 2007. Xiamen, China. Human Mutation.
22. Galbiati S, Foglieni B, Travi M, et al. Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia. Haematologica, 2008, 93: 610-614.
23. Vogelstein B, Kinzler KW. Digital PCR. Proc Natl Acad Sci U S A, 1999, 96: 9236-9241.
24. Li M, Diehl F, Dressman D, et al. BEAMing up for detection and quantification of rare sequence variants. Nat Methods, 2006, 3: 95-97. (Pubitemid 43173307)
25. Lun FM, Chiu RW, Chan KC, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem, 2008, 54: 1664-1672.
26. Chi HB, Cheng LN, Li Y, et al. Quantitative analysis of fetal free DNA in maternal serum using Taqman probe. J Pract Obstet Gynecol, 2006, 22: 311-313.
27. Ju ZM, Zheng ML, Wang YC, et al. Quantitative analysis of fetal cell-free DNA in maternal plasma at early pregnant stage. Chin J Birth Health Hered , 2005, 13: 21-22.
28. Ju ZM, Zheng ML. Study of fetal cell-free DNA in maternal plasma at early pregnant stage. Proc Clin Med, 2006, 15: 175-177.