Recent developments in fetal nucleic acids in maternal plasma: implications to noninvasive prenatal fetal blood group genotyping

Transfusion Clinique et Biologique

Volumn 13, Issue 1-2 SPEC. ISS., 2006, Pages 50-52

  Lo, Y M D ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Circulating nucleic acids; Fetal DNA in maternal plasma; Noninvasive prenatal diagnosis; Plasma DNA

Indexed keywords

DNA; NUCLEIC ACID; BLOOD GROUP ANTIGEN; RHO(D) ANTIGEN;

ARTICLE; BLOOD ANALYSIS; BLOOD GROUP; DNA DETERMINATION; DNA POLYMORPHISM; FETUS BLOOD; GENETIC EPIGENESIS; GENETIC MARKER; GENOTYPE; MATERNAL PLASMA; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NON INVASIVE MEASUREMENT; NUCLEIC ACID ANALYSIS; PRENATAL DIAGNOSIS; SINGLE ALLELE BASE EXTENSION REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; BLOOD GROUP INCOMPATIBILITY; BLOOD GROUP RHESUS SYSTEM; BLOOD GROUP TYPING; DNA METHYLATION; FEMALE; FETOMATERNAL TRANSFUSION; GENETICS; HUMAN; IMMUNOLOGY; MASS SPECTROMETRY; METHODOLOGY; NEWBORN HEMOLYTIC DISEASE; PREGNANCY; PRENATAL DEVELOPMENT; REVIEW; RHESUS ISOIMMUNIZATION;

BLOOD GROUP ANTIGENS; BLOOD GROUP INCOMPATIBILITY; BLOOD GROUPING AND CROSSMATCHING; DNA; DNA METHYLATION; EPIGENESIS, GENETIC; ERYTHROBLASTOSIS, FETAL; FEMALE; FETAL BLOOD; FETOMATERNAL TRANSFUSION; GENOTYPE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS; RH ISOIMMUNIZATION; RH-HR BLOOD-GROUP SYSTEM; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

EID: 33646023698     PISSN: 12467820     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tracli.2006.02.010     Document Type: Article

References (40)

1. Lo Y.M.D., 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
2. Lo Y.M.D., Tein M.S., Lau T.K., Haines C.J., Leung T.N., Poon P.M., 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
3. Lo Y.M.D., Zhang J., Leung T.N., Lau T.K., Chang A.M., and Hjelm N.M. Rapid clearance of fetal DNA from maternal plasma. Am. J. Hum. Genet. 64 (1999) 218-224
4. Costa J.M., Benachi A., and Gautier E. New strategy for prenatal diagnosis of X-linked disorders. N. Engl. J. Med. 346 (2002) 1502
5. Birch L., English C.A., O'Donoghue K., Barigye O., Fisk N.M., and Keer J.T. Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation. Clin. Chem. 51 (2005) 312-320
6. Zimmermann B., El-Sheikhah A., Nicolaides K., Holzgreve W., and Hahn S. Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. Clin. Chem. 51 (2005) 1598-1604
7. Chiu R.W.K., Lau T.K., Leung T.N., Chow K.C.K., Chui D.H.K., and Lo Y.M.D. Prenatal exclusion of beta-thalassaemia major by examination of maternal plasma. Lancet 360 (2002) 998-1000
8. Li Y., Di Naro E., Vitucci A., Zimmermann B., Holzgreve W., and 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
9. Chiu R.W.K., Lau T.K., Cheung P.T., Gong Z.Q., Leung T.N., and Lo Y.M.D. Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin. Chem. 48 (2002) 778-780
10. Rijnders R.J., van der Schoot C.E., Bossers B., de Vroede M.A., and Christiaens G.C. Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet. Gynecol. 98 (2001) 374-378
11. Saito H., Sekizawa A., Morimoto T., Suzuki M., and Yanaihara T. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet 356 (2000) 1170
12. Lo Y.M.D., 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
13. Leung T.N., Zhang J., Lau T.K., Hjelm N.M., and Lo Y.M.D. Maternal plasma fetal DNA as a marker for preterm labour. Lancet 352 (1998) 1904-1905
14. Lo Y.M.D., Lau T.K., Zhang J., Leung T.N., Chang A.M., Hjelm N.M., et al. Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21. Clin. Chem. 45 (1999) 1747-1751
15. Lo Y.M.D., Hjelm N.M., Fidler C., Sargent I.L., Murphy M.F., Chamberlain P.F., et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N. Engl. J. Med. 339 (1998) 1734-1738
16. Faas B.H., Beuling E.A., Christiaens G.C., Von dem Borne A.E., and Van der Schoot C.E. Detection of fetal RHD-specific sequences in maternal plasma. Lancet 352 (1998) 1196
17. Gautier E., Benachi A., Giovangrandi Y., Ernault P., Olivi M., Gaillon T., et al. Fetal RhD genotyping by maternal serum analysis: a two-year experience. Am. J. Obstet. Gynecol. 192 (2005) 666-669
18. Harper T.C., Finning K.M., Martin P., and Moise Jr. K.J. Use of maternal plasma for noninvasive determination of fetal RhD status. Am. J. Obstet. Gynecol. 191 (2004) 1730-1732
19. Finning K.M., Martin P.G., Soothill P.W., and Avent N.D. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion 42 (2002) 1079-1085
20. Bianchi D.W., Avent N.D., Costa J.M., and van der Schoot C.E. Noninvasive prenatal diagnosis of fetal Rhesus D: ready for Prime(r) Time. Obstet. Gynecol. 106 (2005) 841-844
21. Queenan J.T. Noninvasive fetal Rh genotyping: the time has come. Obstet. Gynecol. 106 (2005) 682-683
22. Zhong X.Y., Holzgreve W., and Hahn S. Detection of fetal Rhesus D and sex using fetal DNA from maternal plasma by multiplex polymerase chain reaction. BJOG 107 (2000) 766-769
23. van der Schoot C.E., Rijnders R.J.P., Bossers B., de Haas M., Christiaens L.G.C.M., and Dee R. Real time PCR of bi-allelic insertion/deletion polymorphisms can serve as a reliable positive control for cell-free fetal DNA in non-invasive prenatal genotyping. Blood 102 (2003) 93A
24. Ding C., Chiu R.W.K., Lau T.K., Leung T.N., Chan L.C., Chan A.Y., et al. MS analysis of single-nucleotide differences in circulating nucleic acids: application to noninvasive prenatal diagnosis. Proc. Natl. Acad. Sci. USA 101 (2004) 10762-10767
25. Legler T.J., Lynen R., Maas J.H., Pindur G., Kulenkampff D., Suren A., et al. Prediction of fetal RhD and Rh CcEe phenotype from maternal plasma with real-time polymerase chain reaction. Transfus. Apher. Sci. 27 (2002) 217-223
26. Hromadnikova I., Vechetova L., Vesela K., Benesova B., Doucha J., and Vlk R. Non-invasive fetal RHD and RHCE genotyping using real-time PCR testing of maternal plasma in RhD-negative pregnancies. J. Histochem. Cytochem. 53 (2005) 301-305
27. Bugert P., Lese A., Meckies J., Zieger W., Eichler H., and Kluter H. Optimized sensitivity of allele-specific PCR for prenatal typing of human platelet alloantigen single nucleotide polymorphisms. Biotechniques 35 (2003) 170-174
28. Poon L.L.M., Leung T.N., Lau T.K., Chow K.C., and Lo Y.M.D. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin. Chem. 48 (2002) 35-41
29. Jiang Y.H., Bressler J., and Beaudet A.L. Epigenetics and human disease. Annu. Rev. Genomics Hum. Genet. 5 (2004) 479-510
30. 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. USA 102 (2005) 14753-14758
31. Lui Y.Y., Chik K.W., Chiu R.W., Ho C.Y., Lam C.W., and Lo Y.M.D. Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation. Clin. Chem. 48 (2002) 421-427
32. Bianchi D.W. Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta 25 Suppl A (2004) S93-S101
33. Flori E., Doray B., Gautier E., Kohler M., Ernault P., Flori J., et al. Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report. Hum. Reprod. 19 (2004) 723-724
34. Ng E.K.O., Tsui N.B.Y., Lau T.K., Leung T.N., Chiu R.W.K., Panesar N.S., et al. mRNA of placental origin is readily detectable in maternal plasma. Proc. Natl. Acad. Sci. USA 100 (2003) 4748-4753
35. Herman J.G., Graff J.R., Myohanen S., Nelkin B.D., and Baylin S.B. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc. Natl. Acad. Sci. USA 93 (1996) 9821-9826
36. Jones P.A., and Martienssen R. A blueprint for a Human Epigenome Project: the AACR Human Epigenome Workshop. Cancer Res. 65 (2005) 11241-11246
37. Lo Y.M.D., Wong I.H., Zhang J., Tein M.S., Ng M.H., and Hjelm N.M. Quantitative analysis of aberrant p16 methylation using real-time quantitative methylation-specific polymerase chain reaction. Cancer Res. 59 (1999) 3899-3903
38. Ehrich M., Nelson M.R., Stanssens P., Zabeau M., Liloglou T., Xinarianos G., et al. Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry. Proc. Natl. Acad. Sci. USA 102 (2005) 15785-15790
39. Schatz P., Dietrich D., and Schuster M. Rapid analysis of CpG methylation patterns using RNase T1 cleavage and MALDI-TOF. Nucleic Acids Res. 32 (2004) e167
40. Song L., James S.R., Kazim L., and Karpf A.R. Specific method for the determination of genomic DNA methylation by liquid chromatography-electrospray ionization tandem mass spectrometry. Anal. Chem. 77 (2005) 504-510