Rapid prenatal diagnosis of chromosomal abnormalities; limitations and possibilities;Snelle prenatale diagnostiek van chromosomale afwijkingen; beperkingen en mogelijkheden

Nederlands Tijdschrift voor Geneeskunde

Volumn 150, Issue 29, 2006, Pages 1608-1612

  Ten Kate, L P ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; FETUS CELL; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTERMETHOD COMPARISON; INVASIVE PROCEDURE; MICROSCOPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS;

CHROMOSOME ABERRATIONS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; TIME FACTORS;

EID: 33746518038     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Nagel HTC, Knegt AC, Kloosterman MD, Wildschut HIJ, Leschot NJ, Vandenbussche FPHA. Invasieve prenatale diagnostiek in Nederland, 1991-2000: aantallen ingrepen, indicaties, en gevonden afwijkingen. Ned Tijdschr Geneeskd. 2004;148:1538-43.
2. Bijlsma EK, Wildschut HIJ. Prenatale en pre-implantatiediagnostiek. In: Bijlsma EK, Oosterwijk JC, Leschot NJ, Geraedts JPM, Pronk JC, redacteuren. Leerboek medische genetica. 7e dr. Maarssen: Elsevier Gezondheidszorg; 2005.
3. Otter M. Invasieve prenatale diagnostiek in Nederland, 1991-2000: aantallen ingrepen, indicaties, en gevonden afwijkingen [ingezonden]. Ned Tijdschr Geneeskd. 2004;148:1998-9.
4. Dudarewicz L, Holzgreve W, Jeziorowska A, Jakubowski L, Zimmermann B. Molecular methods for rapid detection of aneuploidy. J Appl Genet. 2005;46:207-15.
5. Pertl B, Yau SC, Sherlock J, Davies AF, Mathew CG, Adinolfi M. Rapid molecular method for prenatal detection of Down's syndrome. Lancet. 1994;343:1197-8.
6. Spathas DH, Divane A, Maniatis GM, Ferguson-Smith ME, Ferguson-Smith MA. Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: a prospective study. Prenat Diagn. 1994;14:1049-54.
7. Hu Y, Zheng M, Xu Z, Wang X, Cui H. Quantitative real-time PCR technique for rapid prenatal diagnosis of Down syndrome. Prenat Diagn. 2004;24:704-7.
8. Nagy B, Bán Z, Lázár L, Nagy RG, Papp C, Tóth-Pál E, et al. Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci. Prenat Diagn. 2005;25:1138-41.
9. Hultén MA, Dhanjal S, Pertl B. Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction. 2003;126: 279-97.
10. Ogilvie CM, Donaghue C, Fox SP, Docherty Z, Mann K. Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem. 2005;53:285-8.
11. Gerdes T, Kirchhoff M, Lind AM, Larsen GV, Schwartz M, Lundsteen C. Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MPLA). Eur J Hum Genet. 2005;13:171-5.
12. Bijlsm EK, Oosterwijk JC, Leschot NJ, Geraedts JPM, Pronk JC, redacteuren. Leerboek medische genetica. 7e dr. Maarssen: Elsevier Gezondheidszorg; 2005.
13. Arnoldus EPJ, Jiwa NM, Peters ACB, Raap AK. De polymerase-kettingreactie. Ned Tijdschr Geneeskd. 1989;133:1825-9.
14. Hoovers JMN, Mellink CHM, Leschot NJ. Fluorescentie-in-situ-hybridisatie bij het onderzoek naar chromosomale afwijkingen. Ned Tijdschr Geneeskd. 1999;143:2265-8.
15. Linn SC, Rijn M van de, Giaccone G. Toekomstige verfijning van diagnostiek en therapie met DNA-microarrays. I. Technologie en data-analyse. Ned Tijdschr Geneeskd. 2003;147:795-9.
16. Grimshaw GM, Szczepura A, Hultén M, MacDonald F, Nevin NC, Sutton F, et al. Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technol Assess. 2003;7:1-146.
17. Hochstenbach R, Meijer J, Brug J van de, Vossebeld-Hoff I, Jansen R, Luijt RB van der, et al. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn. 2005;25:1032-9.
18. Caine A, Maltby AE, Parkin CA, Waters JJ, Crolla JA. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18 and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. UK Association of Clinical Cytogeneticists (ACC). Lancet. 2005;366:123-8.
19. Leung WC, Lao TT. Rapid aneuploidy testing, traditional karyotyping, or both? Lancet. 2005;366:97-8.
20. Prenatale screening (2); Downsyndroom, neuralebuisdefecten. Publicatienr 2004/06. Den Haag: Gezondheidsraad; 2004.
21. Cirigliano V, Voglino G, Adinolfi M. Non-invasive screening and rapid QF-PCR assay can greatly reduce the need for conventional cytogenetic analyses in prenatal diagnosis. Reprod Biomed Online. 2005;11:671-3.
22. Chitty LS, Kagan KO, Molina FS, Waters JJ, Nicolaides KH. Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study. BMJ. 2006;332:452-5.
23. Breuning MH. Genetic testing: from chromosomes to DNA, a revolution in prenatal diagnosis. Eur J Hum Genet. 2005;13:517-8.
24. Vries BBA de, Pfundt R, Leisink M, Koolen DA, Vissers LELM, Janssen IM, et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet. 2005;77:606-16.
25. Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, et al. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet. 2005;42:121-8.
26. Rickman L, Fiegler H, Shaw-Smith C, Nash R, Cirigliano V, Voglino G, et al. Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet. 2006;43:353-61.
27. Check E. Fetal genetic testing: screen test. Nature. 2005;438:733-4.
28. Jaarbericht bevolkingsonderzoek 2006. Publicatienr 2006/10. Den Haag: Gezondheidsraad; 2006.