Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: An alternative for speeding up results?

European Journal of Obstetrics and Gynecology and Reproductive Biology

Volumn 153, Issue 2, 2010, Pages 151-155

  Carvalho, Berta ^a   Dória, Sofia ^a   Ramalho, Carla ^b   Brandão, Otília ^c   Sousa, Mário ^b   Matias, Alexandra ^b   Barros, Alberto ^a   Carvalho, Filipa ^a  

^a University of Porto   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c HOSPITAL DE SÃO JOÃO   (Portugal)

Author keywords

Aneuploidies; Fetal karyotype; Miscarriages; MLPA; Prenatal rapid testing

Indexed keywords

DNA;

ADOLESCENT; ADULT; ANEUPLOIDY; ARTICLE; CLINICAL TRIAL; DIAGNOSTIC ACCURACY; ELECTROPHORESIS; FEMALE; FETUS DEATH; FETUS KARYOTYPING; GENETIC SCREENING; GESTATIONAL AGE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROSPECTIVE STUDY; SEX CHROMOSOME ABERRATION; SPONTANEOUS ABORTION; TRISOMY 13; TRISOMY 18; TRISOMY 21;

EID: 78249256291     PISSN: 03012115     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejogrb.2010.06.022     Document Type: Article

References (28)

1. R. Rai, and L. Regan Recurrent miscarriage Lancet 368 2006 601 611
2. D. Warburton, M. Susser, Z. Stein, and J. Kline Genetic and epidemiologic investigation of spontaneous abortion: relevance to clinical practice Birth Defects Orig Artic Ser 15 1979 127 136
3. A. Many, L. Schreiber, S. Rosner, J.B. Lessing, A. Eldor, and M.J. Kupferminc Pathologic features of the placenta in women with severe pregnancy complications and thrombophilia Obstet Gynecol 98 2001 1041 1044
4. W.A. Hogge, A.L. Byrnes, M.C. Lanasa, and U. Surti The clinical use of karyotyping spontaneous abortions Am J Obstet Gynecol 189 2003 397 402
5. A.E. Sullivan, R.M. Silver, D.Y. LaCoursiere, T.F. Porter, and D.W. Branch Recurrent fetal aneuploidy and recurrent miscarriage Obstet Gynecol 104 2004 784 788
6. G.C. Wolf, and E.O. Horger Indications for examination of spontaneous abortion speciems: a reassessment Am J Obstet Gynecol 173 1995 1364 1368
7. C. Rubio, T. Pehlivan, L. Rodrigo, C. Simón, J. Remohí, and A. Pellicer Embryo aneuploidy screening for unexplained recurrent miscarriage: a minireview Am J Reprod Immunol 53 2005 159 165
8. D. Diego-Alvarez, C. Ramos-Corrales, and Garcia-Hoyos Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach Hum Reprod 21 4 2006 958 966
9. S. Dória, F. Carvalho, and C. Ramalho An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths Eur J Obstet Gynecol Reprod Biol 2009 10.1016/j.ejogrb.2009.07.023
10. T. Hassold, M. Abruzzo, and K. Adkins Human aneuploidy: incidence, origin and etiology Environ Mol Mutagen 28 1996 167 175
11. D.E. McFadden, and J.M. Friedman Chromosomes abnormalities in human beings Mutat Res 96 1997 129 140
12. C. Giorlandino, G. Calugi, L. Iaconianni, M.L. Santero, and A. Lippa Spermatozoa with chromosomal abnormalities may result in a higher rate of recurrent abortion Fertil Steril 70 1998 576 577
13. B. Lomax, S. Tang, and E. Separovic Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetics analysis of spontaneous abortions Am J Hum Genet 66 5 2000 1516 1521
14. V. Jobanputra, A. Sobrino, A. Kinney, J. Kline, and D. Warburton Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions Hum Reprod 17 5 2002 1166 1170
15. K. Mann, C. Donaghue, S.P. Fox, Z. Docherty, and C.M. Ogilvie Strategies for the rapid prenatal diagnosis of chromosome aneuploidy Eur J Hum Genet 12 2004 907 915
16. M.A. Hultén, S. Dhanjal, and B. Pertl Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR Reproduction 126 2003 279 297
17. J.P. Schouten, C.J. McElgunn, R. Waaijer, D. Zwijnenburg, F. Diepvens, and G. Pals Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification Nucleic Acids Res 30 12 2002 e57
18. T. Gerdes, M. Kirchhoff, A.M. Lind, G. Vestergaard Larsen, and S. Kjaergaard Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y Prenat Diagn 28 12 2008 1119 1125
19. H. Carp, V. Toder, A. Aviram, M. Daniely, S. Mashiach, and G. Barkai Karyotype of the abortus in recurrent miscarriage Fertil Steril 75 2001 678 682
20. D. Diego-Alvarez, A.R. de Alba, and R. Cardero-Merlo MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages Prenat Diagn 27 2007 765 771
21. D.L. Bruno, T. Burgess, and H. Ren 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 2006 2786 2793
22. J. Menasha, B. Levy, K. Hirschhorn, and N.B. Kardon Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study Genet Med 7 4 2005 251 263
23. D. Bettio, A. Venci, and P. Levi Setti Chromosomal abnormalities in miscarriages after different assisted reproduction procedures Placenta 29 2008 126 128
24. H.M. Mc McDonald, and H.M. Chambers Intrauterine infection and spontaneous midgestation abortion: is the spectrum of microorganisms similar to that in preterm labor? Infect Dis Obstet Gynecol 8 2000 220 227
25. K. Bell, P. Van Deerlin, B. Haddad, and R. Feinberg Cytogenetic diagnosis of "normal 46,XX" karyotypes in spontaneous abortions frequently may be misleading Fertil Steril 71 1999 334 341
26. C.L. Beever, M.D. Stephenson, and M.S. Peñaherrera Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies Am J Hum Genet 72 2003 399 403
27. C. Morales, A. Sánchez, and J. Bruguera Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities Am J Med Genet 146A 1 2008 66 70
28. C.S. Rodgers, M.R. Creasy, M. Fitchett, C.T. Maliszewska, N.R. Pratt, and J. Waters Solid tissue culture for cytogenetics analysis: a collaborative survey for Association of Clinical Cytogeneticists J Clin Pathol 49 1996 638 641