MALDI-TOF mass spectrometry for trisomy detection

Methods in Molecular Biology

Volumn 444, Issue , 2008, Pages 123-132

  Huang, Dorothy J ^a   Nelson, Matthew R ^b   Holzgreve, Wolfgang ^a  

^a UNIVERSITY WOMEN S HOSPITAL   (Switzerland)

^b SEQUENOM INC   (United States)

Author keywords

Mass spectrometry; Matrix associated laser desorption ionization time of flight (MALDI TOF); Prenatal diagnosis

Indexed keywords

EID: 84934437777     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-59745-66-9_9     Document Type: Article

References (11)

1. Gardner, R. J. M. and Sutherland, G. R. (1996) Pregnancy loss and infertility. In: Chromosome abnormalities and genetic counseling, vol 29. Oxford University Press, New York, 311-321.
2. Dudarewicz, L., Holzgreve, W., Jeziorowska, A., Jahnbowski, L., and Zimmermann, B. (2005) Molecular methods for rapid detection of aneuploidy. J. Appl. Genet. 46, 207-215.
3. Verma, L., Macdonald, F., Leedham, P., Marton, T., Quirke, P., and Papp, Z. (1998) Rapid and simple prenatal DNA diagnosis of Down's syndrome. Lancet 352, 9-12.
4. Findlay, I., Toth, T., Matthews, P., Marton, T., Quirke, P., and Papp. Z. (1998) Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagnosis. J. Assist. Reprod. Genet. 15, 266-275.
5. Levett, L. J., Liddle, S., and Meredith, R. (2001) A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound. Obstet. Gynecol. 17, 115-118.
6. Mansfield, E. S. (1993) Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum. Mol. Genet. 2, 43-50.
7. Pertl, B., Kopp, S., Kroisel, P. M., et al. (1997) Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuoploidies and fetal sex. Am. J. Obstet. Gynecol, 117, 899-906.
8. Wang, D. G., Fan, J. B., Siao, C. J., et al. (1998) Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280, 1077-1082.
9. Tsui, N. B. Y., Chiu, R. W. K., Ding, C., et al. (2005) Detection of trisomy 21 by quantitative mass spectrometric analysis of single-nucleotide polymorphisms. Clin. Chem. 51, 2358-2362.
10. Huang D. J., et al. (2006) Reliable detection of trisomy 21 using MALDI-TOF mass spectrometry. Genet. Med. 8, 728-784.
11. Chiu, C. M. and Muddiman, D. C. (2001) What is Mass Spectrometry? (www.asms.org). American Society for Mass Spectrometry.