An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths

European Journal of Obstetrics and Gynecology and Reproductive Biology

Volumn 147, Issue 2, 2009, Pages 144-150

  Dória, Sofia ^a   Carvalho, Filipa ^a   Ramalho, Carla ^b   Lima, Vera ^a   Francisco, Tânia ^a   Machado, Ana Paula ^b   Brandão, Otília ^b   Sousa, Mário ^a,c   Matias, Alexandra ^b   Barros, Alberto ^a  

^a University of Porto   (Portugal)

^b HOSPITAL DE SÃO JOÃO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

Author keywords

CGH; Chromosomal abnormalities; Karyotype; Spontaneous miscarriages; Touch FISH

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FETUS DEATH; FETUS KARYOTYPING; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN TISSUE; PRIORITY JOURNAL; SPONTANEOUS ABORTION;

EID: 71849084531     PISSN: 03012115     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejogrb.2009.07.023     Document Type: Article

References (30)

1. Rai R., and Regan L. Recurrent miscarriage. Lancet 68 (2006) 601-611
2. Goddijn M., and Leschot N.J. Genetic aspects of miscarriage. Baillieres Best Pract Res Clin Obstet Gynaecol 14 5 (2000) 855-865
3. Azmanov D.N., Milachich T.V., Zaharieva B.M., et al. Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization. Eur J Obst Gynecol Reprod Biol 131 (2007) 127-131
4. Griffin D.K., Millie E.A., Redline R.W., Hassold T.J., and Zaragoza M.V. Cytogenetic analysis of spontaneous abortions: comparison of techniques and assessment of the incidence of confined placental mosaicism. Am J Med Genet 72 3 (1997) 297-301
5. Bell K.A., Van Deerlin P.G., Haddad B.R., and Feinberg R.F. Cytogenetic diagnosis of "normal 46 XX" karyotypes in spontaneous abortions frequently may be misleading. Fertil Steril 71 2 (1999) 334-341
6. Lomax B., Tang S., Separovic E., et al. Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions. Am J Hum Genet 66 (2000) 1516-1521
7. Lebedev I.N., Ostroverkhova N.V., Nikitina T.V., Sukhanova N.N., and Nazarenko S.A. Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis. Eur J Hum Genet 12 7 (2004) 513-520
8. Morales C., Sánchez A., Bruhuera J., et al. Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the Broades spectrum of chromosome abnormalities. Am J Med Genet 146A (2008) 66-70
9. Bruno D.L., Burgess T., Ren H., et al. High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. Am J Med Genet 140A 24 (2006) 2786-2793
10. Diego-Alvarez D., Garcia-Hoyos M., Trujillo M.J., et al. Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages. Hum Reprod 20 May (5) (2005) 1235-1243
11. Bryndorf T., Kirchhoff M., Rose H., et al. Comparative genomic hybridization in clinical cytogenetics. Am J Hum Genet 57 5 (1995) 1211-1220
12. Daniely M., Aviram-Goldring A., Barkai G., and Goldman B. Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization. Hum Reprod 13 (1998) 805-809
13. Levy B., Dunn T.M., Kaffe S., Kardon N., and Hirschhorn K. Clinical applications of comparative genomic hybridization. Genet Med 1 (1998) 4-12
14. Lestou V.S., Desilets V., Lomax B.L., Barrett I.J., et al. Comparative genomic hybridization: a new approach to screening for intrauterine complete or mosaic aneuploidy. Am J Med Genet 92 (2000) 281-284
15. Kallioniemi A., Kallioniemi O.P., Sudar D., et al. Comparative genomic hybridization for molecular analysis of solid tumors. Science 258 (1992) 818-821
16. Kallioniemi O.P., Kallioniemi A., Piper J., et al. Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromos Cancer 10 (1994) 231-243
17. Belaud-Rotureau M.A., Meunier N., Eimer S., Vital A., Loiseau H., and Merlio J.P. Automatized assessment of 1p36-19q13 status in gliomas by interphase FISH assay on touch imprints of frozen tumours. Acta Neuropathol (Berl) 111 3 (2006) 255-263
18. Scheie D., Andresen P.A., Cvancarova M., et al. Fluorescence in situ hybridization (FISH) on touch preparations: a reliable method for detecting loss of heterozygosity at 1p and 19q in oligodendroglial tumors. Am J Surg Pathol 30 7 (2006) 828-837
19. Shafer L.G., and Tommerup N. An international system for human cytogenetic nomenclature. Basel: Karger. Cytogenet Genome Res (2005)
20. Kirchhoff M., Gerdes T., Rose H., Maahr J., Ottesen A.M., and Lundstenn C. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry 31 (1998) 163-173
21. Lomax B.L., Lestou V.S., Barrett I.J., and Kalousek D.K. Confined placental mosaicism for chromosome 7 detected by comparative genomic hybridization. Prenat Diagn 18 (1998) 752-754
22. Lestou V.S., Lomax B.L., Barrett I.J., and Kalousek D.K. Screening of human placentas for chromosomal mosaicism using comparative genomic hybridization. Teratology 59 (1999) 325-330
23. Hassold T., Chen N., Funkhouser J., et al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 44 (1980) 151-178
24. Bartels I., Hansmann I., and Eiben B. Excess of females in chromosomally normal spontaneous abortuses. Am J Med Genet 35 2 (1990) 297-298
25. Jarrett K.L., Michaelis R.C., Phelan M.C., Vincent V.A., and Best R.G. Microsatellite analysis reveals a high incidence of maternal cell contamination in 46 XX products of conception consisting of villi or a combination of villi and membranous material. Am J Obstet Gynecol 185 1 (2001) 198-203
26. Hassold T., Warburton D., Kline J., and Stein Z. The relationship of maternal age and trisomy among trisomic spontaneous abortions. Am J Hum Genet 36 6 (1984) 1349-1356
27. Nagaishi M., Yamamoto T., Iinuma K., Shimomura K., Berend S.A., and Knops J. Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan. J Obstet Gynaecol Res 30 3 (2004) 237-241
28. Stephenson M.D., Awartani K.A., and Robinson W.P. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Human Reprod 17 2 (2002) 446-451
29. Stephenson M., and Kutteh W. Evaluation and management of recurrent early pregnancy loss. Clin Obstet Gynecol 50 1 (2007) 132-145
30. Hassold T., and Chiu D. Maternal age specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum Genet 70 (1985) 11-17