Real-time quantitative PCR for the detection of fetal aneuploidies

Methods in Molecular Biology

Volumn 444, Issue , 2008, Pages 95-109

  Zimmermann, Bernhard G ^a,b   Dudarewicz, Lech ^c  

^a UNIVERSITY OF THE WEST OF ENGLAND   (United Kingdom)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c POLISH MOTHER S MEMORIAL HOSPITAL RESEARCH INSTITUTE   (Poland)

Author keywords

Amniotic fluid; Aneuploidy; DNA analysis; Down syndrome; Gene copy number; Molecular probes; Multiplex real time polymerase chain reaction (PCR); PCR kinetics; PCR primers; Prenatal diagnosis; Relative quantification; Trisomy 18; Trisomy 21

Indexed keywords

EID: 84934436155     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-59745-66-9_7     Document Type: Article

References (20)

1. Thorp, J. A., Helfgott, A. W., King, E. A., King, A. A., and Minyard, A. N. (2005) Maternal death after second-trimester genetic amniocentesis. Obstet. Gynecol. 105, 1213-1215.
2. Cicero, S., Spencer, K., Avgidou, K., Faiola, S., and Nicolaides, K. H. (2005) Maternal serum biochemistry at 11-13(+6) weeks in relation to the presence or absence of the fetal nasal bone on ultrasonography in chromosomally abnormal fetuses: an updated analysis of integrated ultrasound and biochemical screening. Prenat. Diagn. 25, 977-983.
3. Wald, N., Cuckle, H., Wu, T. S., and George, L. (1991) Maternal serum unconjugated oestriol and human chorionic gonadotrophin levels in twin pregnancies: implications for screening for Down's syndrome. Br. J. Obstet. Gynaecol. 98, 905-908.
4. Nicolaides, K. H., Azar, G., Byrne, D., Mansur, C., and Marks, K. (1992) Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 304, 867-869.
5. Cicero, S., Longo, D., Rembouskos, G., Sacchini, C., and Nicolaides, K. H. (2003) Absent nasal bone at 11-14 weeks of gestation and chromosomal defects. Ultra-sound Obstet. Gynecol. 22, 31-35.
6. Falcon, O., Auer, M., Gerovassili, A., Spencer, K., and Nicolaides, K. H. (2006) Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free beta-hCG and PAPP-A at 11 + 0 to 13 + 6 weeks. Ultrasound Obstet. Gynecol. 27, 151-155.
7. Brambati, B., Macintosh, M. C., Teisner, B., et al. (1993) Low maternal serum levels of pregnancy associated plasma protein A (PAPP-A) in the first trimester in association with abnormal fetal karyotype. Br. J. Obstet. Gynaecol. 100, 324-326.
8. Macri, J. N., Spencer, K., Aitken, D., et al. (1993) First-trimester free beta (hCG) screening for Down syndrome. Prenat. Diagn. 13, 557-562.
9. Witters, I., Devriendt, K., Legius, E., et al. (2002) Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat. Diagn. 22, 29-33.
10. Klinger, K., Landes, G., Shook, D., et al. (1992) Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am. J. Hum. Genet. 51, 55-65.
11. von Eggeling, F., Freytag, M., Fahsold, R., Horsthemke, B., and Claussen, U. (1993) Rapid detection of trisomy 21 by quantitative PCR. Hum. Genet. 91, 567-570.
12. Levett, L. J., Liddle, S., and Meredith, R. (201) A large-scale evaluation of amnioPCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet. Gynecol. 17, 115-118.
13. Hulten, M. A., Dhanjal, S., and Pertl, B. (2003) Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction 126, 279-297.
14. Dudarewicz, L., Holzgreve, W., Jeziorowska, A., Jakubowski, L., and Zimmermann, B. (2005) Molecular methods for rapid detection of aneuploidy. J. Appl. Genet. 46, 207-215.
15. Gingeras, T. R., Higuchi, R., Kricka, L. J., Lo, Y. M., and Wittwer, C. T. (2005) Fifty years of molecular (DNA/RNA) diagnostics. Clin. Chem. 51, 661-671.
16. Bustin, S. A. and Mueller, R. (2005) Real-time reverse transcription PCR (qRT-PCR) and its potential use in clinical diagnosis. Clin. Sci. 109, 365-379.
17. Zimmermann, B., Holzgreve, W., Wenzel, F., and Hahn, S. (2002) Novel real-time quantitative PCR test for trisomy 21. Clin. Chem. 48, 362-363.
18. Hahn, S., Zhong, X. Y., Burk, M. R., Troeger, C., and Holzgreve, W. (2000) Multiplex and real-time quantitative PCR on fetal DNA in maternal plasma. A comparison with fetal cells isolated from maternal blood. Ann. N Y Acad. Sci. 906, 148-152.
19. Zimmermann, B., El-Sheikhah, A., Nicolaides, K., Holzgreve, W., and Hahn, S. (2005) Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. Clin. Chem. 51, 1598-1604.
20. Livak, K. J. and Schmittgen, T. D. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 5, 402-408.