Role of array comparative genomic hybridization in investigation of cytogenetic causes of pregnancy loss

Pathology Case Reviews

Volumn 16, Issue 5, 2011, Pages 214-221

  Velagaleti, Gopalrao V N ^a   Moore, Charleen M ^a  

^a University of Texas Health Science Center   (United States)

Author keywords

a CGH; chromosome abnormalities; FISH; Pregnancy loss

Indexed keywords

GENOMIC DNA;

CHROMOSOME 12; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME G BAND; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; FETUS; FETUS WASTAGE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN TISSUE; KARYOTYPING; MICROARRAY ANALYSIS; PREGNANCY COMPLICATION; PREGNANCY OUTCOME; PRIORITY JOURNAL; REVIEW; SPONTANEOUS ABORTION;

EID: 80052508113     PISSN: 10829784     EISSN: 15334015     Source Type: Journal    
DOI: 10.1097/PCR.0b013e3182298817     Document Type: Review

References (54)

1. American College of Obstetrics and Gynecology (ACOG) Practice Bulletin. Management ofrecurrent pregnancy loss. Number 24, February 2001 (replaces Technical Bulletin Number 212, September 1995). Int JGynaecol Obstet 2001;78:179-190.
2. Gardner R, Sutherland G. Chromosome Abnormalities and Genetic Counseling. 3rd ed. New York, NY: Oxford University Press Inc; 2004.
3. Harper P. Practical Genetic Counseling. 5th ed. New York, NY: Oxford University Press Inc; 2004.
4. Katz VL, Kuller JA. Recurrent miscarriage. Am J Perinatol 1994;11:386-397. (Pubitemid 24375030)
5. Schreck R, Silverman N. Fetal loss. In: DL Rimoin, JM Connor, RE Pyeritz, B Korf, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 4th ed. London, UK: Churchill Livingstone; 2002:982-997.
6. Bricker L, Farquharson RG. Types ofpregnancy loss in recurrent miscarriage: Implications for research and clinical practice. Hum Reprod 2002;17:1345-1350. (Pubitemid 34537374)
7. Daya S. Issues in the etiology ofrecurrent spontaneous abortion. Curr Opin Obstet 1994;6:153-159. (Pubitemid 24106875)
8. Li TC. Recurrentmiscarriage: Principles ofmanagement. Hum Reprod 1998;13:478-482.
9. Shawky Z, Badawy A, Westpfal EM. Frequency ofetiological factors and cost effectiveness of the work up for patients with history of recurrent pregnancy loss. Early Pregnancy 2000;4:253-260.
10. Tulppala M, Stenman UH, Cacciatore B, et al. Polycystic ovaries and levels of gonadotropins and androgens in recurrent miscarriage: prospective study in 50 women. Br J Obstet Gynaecol 1993;100:348-352. (Pubitemid 23121156)
11. Hogge WA, Byrnes AL, Lanasa MC, et al. The clinical use of karyotyping spontaneous abortions. Am J Obstet Gynecol 2003;189:397-400.
12. Byrne JLB, Ward K. Genetic factors in recurrent abortions. Clin Obstet Gynecol 1994;37:693-704.
13. Abruzzo MA, Hassold TJ. Etiology of nondysjunction in humans. Environ Mol Mutagen 1995;25:38-47.
14. Hassold TJ. A cytogenetic study ofrepeated spontaneous abortions. Am JHum Genet 1980;32:723-730. (Pubitemid 10061693)
15. Drugan A, Koppitch FC III, Wiliams JC III, et al. Prenatal genetic diagnosis following recurrent early pregnancy loss. Obstet Gynecol 1990;75:381-384. (Pubitemid 20062275)
16. Eiben B, Bartels I, Bahr-Porsch S, et al. Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method ofchorionic villi and its implications for studying genetic causes ofpregnancy wastage. Am JHum Genet 1990;47:656-663.
17. Rodgers CS, Creasy MR, Fitchett M, et al. Solid tissue culture for cytogenetic analysis: a collaborative survey for the Association of Clinical Cytogeneticists. J Clin Path 1996;49:638-641. (Pubitemid 26264389)
18. UKNEQAS. United Kingdom National External Quality Assessment Scheme. In: Guidelines for Clinical Cytogenetics; 1999. http://www.cytogenetics.org.uk/prof- standards/acc-general-bp- mar2007-1.04.pdf
19. Howarth ES, Konje JC, Healey KA, et al. Invasive testing for the karyotyping ofmid-trimester intrauterine fetal death (IUFD): a pilot study. Prenat Diagn 2002;22:453-455. (Pubitemid 34716933)
20. Kallioniemi A, Kallioniemi OP, Sudar D, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992;258:818-821.
21. Daniely M, Aviram-Goldring A, Barkai G, et al. Detection of chromosomal aberrations in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization. Hum Reprod 1998;13:805-809. (Pubitemid 28239178)
22. Bryndorf T, Kirchhoff M, Maahr J, et al. Comparative genomic hybridization in clinical cytogenetics. Am J Hum Genet 1995;57:1211-1220.
23. Bentz M, Plesch A, Stilgenbauer S, et al. Minimal sizes ofdeletions detected by comparative genomic hybridization. Genes Chromosomes Cancer 1998;21:172-175. (Pubitemid 28081245)
24. Kirchhoff M, Gerdes T, Maahr J, et al. Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals. Genes Chromosomes Cancer 1999;25:410-413. (Pubitemid 29326152)
25. Solinas-Toldo S, Lampel S, Stilgenbauer S, et al. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 1997;20:399-407. (Pubitemid 27520090)
26. Snijders AM, Nowak N, Segraves R, et al. Assembly of microarray for genome-wide measurement of DNA copy number. Nat Genet 2001;29:263-264. (Pubitemid 33096449)
27. Vissers LE, de Vries BB, Osoegawa K, et al. Array-based comparative genomic hybridization for the genome wide detection ofsubmicroscopic chromosomal abnormalities. Am J Hum Genet 2003;73:1261-1270. (Pubitemid 38037420)
28. Shaw-Smith C, Redon R, Rickman L, et al. Microarray based comparative genomic hybridization (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. JMed Genet 2004;41:241-248. (Pubitemid 38496765)
29. Cheung SW, Shaw CA, Wi Y, et al. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 2005;7:422-432. (Pubitemid 41139627)
30. Knuutila S, Bjorkqvist AM, Autio K et al. DNA copy number amplifications in human neoplasms? A review ofcomparative genomic hybridization studies. Am J Pathol 1998;152:1107-1123. (Pubitemid 28221862)
31. Knuutila S, Autio K, Bjorkqvist AM, et al. DNA copy number losses in human neoplasms. Am J Pathol 1999;155:683-694. (Pubitemid 29426813)
32. Kirchoff M, Rose H, Lundsteen C. High resolution comparative genomic hybridization in clinical cytogenetics. JMed Genet 2001;38:740-744. (Pubitemid 33032928)
33. Ylstra B, van den Ijssel P, Carvalho B, et al. BAC to the future! Or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH). Nucleic Acids Res 2006;34:445-450. (Pubitemid 43240234)
34. Pinkel D, Alberston DG. Array comparative genomic hybridization and its application in cancer. Nat Genet 2005;37:S11-S17. (Pubitemid 40770398)
35. Lockwood WW, Chari R, Chi B, et al. Recent advances in array comparative genomic hybridization technologies and their applications in human genetics. Eur JHum Genet 2006;14:139-148. (Pubitemid 43135854)
36. Veltman JA, de Vries BB. Diagnostic genome profiling: unbiased whole genome or targeted arrays? JMol Diagn 2006;8:534-537.
37. Ballif BC, Kashork CD, Saleki R, et al. Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. Prenat Diagn 2006;26:333-339.
38. Tan DSP, Lambros MBK, Natrajan R, et al. Getting it right: designing microarray (and not 'microawry') comparative genomic hybridization studies for cancer research. Lab Investigation 2007;87:737-754. (Pubitemid 47077258)
39. Lu X, Shaw CA, Patel A, et al. Clinical implementation of chromosomal microarray analysis: summary of2513 postnatal cases. PLo S One 2007;2:e327.
40. Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N YAcad Sci 2009;1151:157-166.
41. Manning M, Hudgins L. Array-basedtechnology and recommendations for utilization in medical genetics practice for detection ofchromosomal abnormalities. Genet Med 2010;12(11):742-745.
42. Tsai AC, Dossett JC, Walton CS, et al. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by a CGH. Eur JHum Genet 2011;19:43-49.
43. Bartnik M, Derwinska K, Gos M, et al. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genet Med 2011;13:447-452.
44. Fruhman G, Van den Veyer BV Application of array comparative genomic hybridization in obstetrics. Obstet Gynecol Clin NAm 2010;37:71-85.
45. Shaffer LG, Beaudet AL, Brothman AR, et al. Microarray analysis for constitutional cytogenetic abnormalities. Genet Med 2007;9:654-662. (Pubitemid 47415276)
46. Vermeesch JR, Fiegler H, de Leeuw N, et al. Guidelines for molecular kayotyping in constitutional genetic diagnosis. Eur JHum Genet 2007;15:1105-1114. (Pubitemid 350011675)
47. Schaeffer AJ, Chung J, Heretis K, et al. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 2004;74:1168-1174. (Pubitemid 38669315)
48. Benkhalifa M, Kasakyan S, Clement P, et al. Array comparative genomic hybridization profiling offirst-trimester spontaneous abortions that fail to grow in vitro. Prenat Diagn 2005;25:894-900. (Pubitemid 41494984)
49. Menten B, Swets K, Delle Chiaie B, et al. Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples. BMCMed Genet 2009;10:89.
50. Shimokawa O, Harada N, Miyake N, et al. Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes. Am JMed Genet 2006;140:1931-1935. (Pubitemid 44380081)
51. Rajcan-Separovic E, Qiao Y, Tyson C, et al. Genomic changes detected by array CGH in human embryos with developmental defects. Mol Hum Reprod 2009;16:125-134.
52. Raca G, Artzer A, Thorson L, et al. Array-based comparative genomic hybridization (a CGH) in the genetic evaluation of stillbirth. Am JMed Genet 2009;149A:2437-2443.
53. Robberecht C, Shuddinck V, Fryns J-P, et al. Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls. Genet Med 2009;11:646-654.
54. Deshpande M, Harper J, Holloway M, et al. Evaluation of array comparative genomic hybridization for genetic analysis ofchorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification. Genet Test Mol Biomarkers 2010;14:421-424.