Prenatal diagnosis of trisomy 21 with fetal cells in maternal blood using comparative genomic hybridization

Fetal Diagnosis and Therapy

Volumn 21, Issue 1, 2005, Pages 125-133

  Young, Ho Yang ^a   Eun, Suk Yang ^a   Ja, Young Kwon ^a   In, Kyu Kim ^a   Yong, Won Park ^a  

^a Yonsei University College of Medicine   (South Korea)

Author keywords

Comparative genomic hybridization; Fetal nucleated red blood cells; Laser mediated microdissection; Prenatal diagnosis

Indexed keywords

CD45 ANTIGEN; CD71 ANTIGEN; HEPARIN;

ARTICLE; BLOOD SAMPLING; CELL DEGENERATION; CELL ISOLATION; CELL SELECTION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DENSITY GRADIENT CENTRIFUGATION; DNA HYBRIDIZATION; DNA NICK TRANSLATION; ERYTHROCYTE; FEMALE; FETUS; FETUS CELL; HUMAN; HUMAN CELL; MALE; MATERNAL BLOOD; MICRODISSECTION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRISOMY 21;

DNA; DOWN SYNDROME; ERYTHROCYTES; FEMALE; FETUS; HUMANS; MALE; NUCLEIC ACID HYBRIDIZATION; PLACENTAL CIRCULATION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 29144456593     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000089062     Document Type: Article

References (41)

1. Holzgreve W, Garritsen H, Ganshirt-Ahlert D: Fetal cells in the maternal circulation. J Rep Med 1992;37:410-418.
2. Gänshirt-Ahlert D, Garritsen H, Holzgreve W: Fetal cells in maternal blood. Curr Opin Obstet Gynecol 1995;7:103-108.
3. Chueh J, Globus MS: Prenatal diagnosis using fetal cells in the maternal circulation. Semin Perinatol 1990;12:471-482.
4. Simpson J: Isolating fetal cells in maternal circulation for prenatal diagnosis. Prenat Diagn 1994;14:1229-1242.
5. Bianchi DW: Prenatal diagnosis by analysis of fetal cells in maternal blood. J Pediatr 1995;127:847-856.
6. Bianchi DW, Flint AF, Pizzimenti MF, Knoll J, Latt SA: Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc Natl Acad Sci USA 1990;87:3279-3283.
7. Gänshirt-Ahlert D, Börjesson-Stoll R, Burschyk M, Dohr A, Garritsen HSP, Helmer E, Miny P, Velasco M, Walde C, Patterson D, Teng N, Bhat NM, Bieber MM, Holzgreve W: Detection of fetal trisomies 21 and 18 from maternal blood using triple gradient and magnetic cell sorting. Am J Reprod Immunol 1993;30:194-201.
8. Lo Y, Patel P, Wainscoat J: Prenatal sex determination by DNA amplification from maternal peripheral blood. Lancet 1989;2:1363-1367.
9. Yang YH, Yoo HS, Kim IK, Kim DU, Lee MH, Kim MS: Prenatal sex determination from maternal peripheral blood using PCR and its clinical application for prenatal genetic diagnosis. Korean J Obstet Gynecol 1995;38:370-377.
10. Price J, Elias S, Wachtel S: Prenatal diagnosis using fetal cells isolated from maternal blood by multiparameter flow cytometry. Am J Obstet Gynecol 1991;165:1731-1737.
11. Lo Y, Patel P, Baigent C: Prenatal sex determination from maternal peripheral blood using the polymerase chain reaction. Hum Genet 1993;30:483-488.
12. Voullaire L, Wilton L, Slater H, Williamson R: Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat Diagn 1999;19:846-851.
13. Wells D, Sherlock JK, Handyside AH, Delhanty JD: Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridization. Nucleic Acids Res 1999;27:1214-1218.
14. Zhang L, Cui X, Schmitt K, Hubert R, Navidi W, Arnheim N: Whole genomic amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci USA 1992;89:5847-5851.
15. Gänshirt-Ahlert D, Burschyk M, Garritsen H, Helmer L, Miny P, Horst J, Schneider HP, Holzgreve W: Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal blood. Am J Obstet Gynecol 1992;166:1350-1355.
16. Yang YH, Jee KJ, Kim SK, Park YW, Kim IK, Cha DH, Chung JE, Kim SH: Prenatal genetic diagnosis from maternal blood: simultaneous immunophenotyping and FISH of fetal nucleated erythrocytes isolated by negative and positive MACS. Yonsei Med J 2000;41:258-265.
17. Schütze K, Becker I, Becker KF, Thalhammer S, Stark R, Heckl WM, Böhm M, Pösl H: Cut out or poke in the key to the world of single genes: laser micromanipulation as a valuable tool on the lookout for the origin of disease. Genet Anal 1997;14:1-8.
18. Hahn S, Zhong XY, Troeger C, Burgemeister R, Gloning K, Holzgreve W: Current applications of single-cell PCR. Cell Mol Life Sci 2000;57:96-105.
19. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman FM, Pinkel D: Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992;258:818-821.
20. Golbus MS, Loughman WD, Epstein CJ, Halbasch G, Stephens JD, Hall BD: Prenatal genetic diagnosis in 3,000 amniocenteses. N Engl J Med 1979;300:157-163.
21. Yang YH, Kim MS, Park YW, Kim SK, Cho JS, Jeong HJ: Chorionic villus sampling: experience of first 510 cases in Korea. Korean J Obstet Gynecol 1993;36:906-915.
22. Yang YH, Park YW, Cho JS: Chorionic villus sampling: clinical experience of the initial 750 cases. J Obstet Gynaecol Res 1996;22:143-149.
23. Daffos F, Capella-Pavlovsky M, Forestier F: Fetal blood sampling during pregnancy with use of a needle guided by ultrasound: a study of 606 consecutive cases. Am J Obstet Gynecol 1995;153:655-660.
24. Spencer K, Salonen R, Muller F: Down's syndrome screening in multiple pregnancies using alpha-fetoprotein and free beta hCG. Prenat Diagn 1994;14:537-542.
25. Simpson JL: Isolating fetal cells in maternal circulation for prenatal diagnosis. Prenat Diagn 1994;14:1229-1242.
26. Yang YH, Kim SH, Yang ES, Kim SK, Kim IK, Park YW, Cho JS, Lee YH: Prenatal diagnosis of fetal trisomy 21 from maternal peripheral blood. Yonsei Med J 2003;44:18-16.
27. Hamada H, Arinami T, Kubo T, Hamguchi H, Iwasaki H: Fetal nucleated cells in maternal peripheral blood: frequency and relationship to gestational age. Hum Genet 1993;91:427-432.
28. Sohda S, Arinami T, Hamada H, Nakauchi H, Hamguchi H, Kubo T: The proportion of fetal nucleated red blood cells in maternal blood: estimation by FACS analysis. Prenat Diagn 1997;17:743-752.
29. Bhat NM, Bieber NM, Teng N: One step enrichment of nucleated red blood cells. J Immunol Methods 1993;158:277-280.
30. Miltenyi S, Muller W, Weichel W: High gradient magnetic cell separation with MACS. Cytometry 1990;11:231-234.
31. Bianchi DW: Development of a model system to compare cell separation methods for the isolation of fetal cells from maternal blood. Prenat Diagn 1996;16:289-298.
32. Gänshirt-Ahlert D, Smeets F, Dohr A, Walde C, Steen I, Lapucci C, Falcinelli C, Sant R, Velasco M, Garritsen H, Holzgreve W: Enrichment of fetal nucleated red blood cells from the maternal circulation for prenatal diagnosis: experiences with triple density gradient and MACS based on more than 600 cases. Fetal Diagn Ther 1998;13:276-286.
33. Kallioniemi OP, Kallioniemi A, Piper J, Isola J, Waldman FM, Gray JW, Pinkel D: Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromosomes Cancer 1994;10:231-243.
34. Bryndorf T, Kirchhoff M, Rose H, Maahr J, Gerdes T, Karhu R, Kallioniemi A, Christensen B, Undsteen C, Philip J: Comparative genomic hybridization in clinical cytogenetics. Am J Hum Genet 1995;57:1211-1220.
35. Morton NE: Parameters of the human genome. Proc Natl Acad Sci USA 1991;88:7474-7476.
36. Kuukasjärvi T, Tanner M, Pennanen S, Karhu R, Visakorpi T, Isola J: Optimizing DOP-PCR for universal amplification of small DNA samples in comparative genomic hybridization. Genes Chromosomes Cancer 1997;18:94-101.
37. Griffin DK, Sanoudou D, Adamski E, McGriffert C, O'Brien P, Weinberg J, Ferguson-Smith MA: Chromosome specific comparative genomic hybridization for determining the origin of intrachromosomal duplications. J Med Genet 1998;35:37-41.
38. Zhong XY, Bürk MR, Troeger C, Jackson LR, Holzgreve W, Hahn S: Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses. Prenat Diagn 2000;20:795-798.
39. Bianchi DW, Williams JM, Sullivan LM, Hanson FW, Klinger KW, Shuber AP: PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies. Am J Hum Genet 1997;61:822-829.
40. Karhu R, Kähkönen M, Kuukasjärvi T, Pennanen S, Tirkkonen M, Kallioniemi O: Quality control of CGH: impact of metaphase chromosomes and the dynamic range of hybridization. Cytometry 1997;28:198-205.
41. El-Rifai W, Larramendy ML, Bjorkqvist AM, Hemmer S, Sakari K: Optimization of comparative genomic hybridization using fluorochrome conjugated to dCTP and dUTP nucleotides. Lab Invest 1997;77:699-700.