Array-CGH testing in spontaneous abortions with normal karyotypes

Genetics and Molecular Biology

Volumn 31, Issue 2, 2008, Pages 416-422

  Borovik, Cleide Largman ^a   Perez, Ana Beatriz A ^b   da Silva, Luciana R J ^a,b   Krepischi Santos, Ana Cristina V ^c   Costa, Silvia S ^c   Rosenberg, Carla ^c  

^a Departamento de Patologia Clínica   (Brazil)

^b Centro de Medicina Genética   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Array CGH; Chromosomal aberrations; Spontaneous abortion

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; CELL CULTURE; CHROMOSOME ANALYSIS; CHROMOSOME G BAND; CHROMOSOME INSERTION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; FEMALE; FIRST TRIMESTER PREGNANCY; HUMAN; HUMAN CELL; KARYOTYPE; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MOLECULAR CLONING; NUMERICAL CHROMOSOME ABERRATION; SPONTANEOUS ABORTION; STRUCTURAL CHROMOSOME ABERRATION;

EID: 46649119321     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572008000300004     Document Type: Article

References (30)

1. Ballif BC, Kashork CD, Saleki R, Rorem E, Sundin K, Bejani BA and Shaffer LG (2006) Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. Prenat Diagn 26:333-339.
2. Bell KA, Van Deerlin PG, Haddad BR and Feinberg RF (1999) Cytogenetic diagnosis of "normal 46,XX" karyotypes in spontaneous abortions frequently may be misleading. Fertil Steril 71:334-341.
3. Benkhalifa M, Kasakyan S, Clement P, Baldi M, Tachdjian G, Demirol A, Gurgan T, Fiorentino F, Mohammed M and Qumsiyeh MB (2005) Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro. Prenat Diagn 25:894-900.
4. Brancati F, Mingarelli R and Dallapiccola B (2003) Recurrent triploidy of maternal origin. Eur J Hum Genet 11:972-974.
5. Daniely M. Aviram-Goldrine A, Barkai G and Goldman B (1998) Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization. Hum Reprod 13:805-809.
6. Diego-Alvarez D, Garcia-Hoyos M, Trujillo MJ, Gonzalez-Gonzalez C, Rodriguez de Alba M, Ayuso C, Ramos-Corrales C and Lorda-Sanchez I (2005) Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages. Hum Reprod 20:1235-1243.
7. Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, Vallespin-Garcia E, Ayuso C and Lorda-Sanchez I (2006) Double trisomy in spontaneous miscarriages: Cytogenctic and molecular approach. Hum Reprod 21:958-966.
8. Eiben B, Bartels I, Bahr-Porsch S, Borgmann S, Gatz G, Gellert G, Goebel R, Hammans W, Hentemann M and Osmers R (1990) Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wast-age. Am J Hum Genet 47:656-663.
9. Fritz B, Hallermann C, Olert J, Fuchs B, Bruns M, Aslan M, Schmidt S, Coerdt W, Muntefering H and Relider H (2001) Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in early spontaneous abortions. Eur J Hum Genet 9:539-547.
10. Fulcheri E, Bulfamante G, Resta L and Taddei GL (2006) L'embrio-patologia e la patologia feto-perinatale nella diagnostica anatomo-patologica: Cosa è cambiato e cosa è nocessario cambiare. Pathologica 98:1-36 (Abstract in English).
11. Greenwold N and Jauniaux E (2002) Collection of villous tissue under ultrasound guidance to improve the cytogenetic study of early pregnancy failure. Hum Reprod 17:452-456.
12. Horiuchi I, Hashimoto T, Tsuji Y, Shimada H, Furuyama J and Koyama K (1997) Direct assessment of triploid cells in mosaic human fetuses by fluorescence in-situ hybridization. Mol Hum Reprod 3:445-450.
13. Karaoguz MY, Nas T, Konac E, Ince D, Pala E and Menevse S (2005) Is cytogenetic diagnosis of 46,XX karyotype spontaneous abortion specimens erroneous? Fluorescence in situ hybridization as a confirmatory technique. J Obstet Gynaecol Res 31:508-513.
14. Lai CYL, Chan KYK, Khoo US, Ngan HYS, Xue WC, Chiu PM, Tsao SW and Cheung ANY (2004) Analysis of gestational trophoblastic disease by genotyping and chromosome in situ hybridization. Mod Pathol 17:40-48.
15. Le Caignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Debrock S, Staessen C, Moreau Y, Fryns JP, Van Steirteghem A, et al. (2006) Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res 34:e68.
16. Lebedev IN, Ostroverkhova NV, Nikitina TV, Sukhanova NN and Nazarenko SA (2004) Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis. Eur J Hum Genet 12:513-520.
17. Lescoat D, Jouan H, Loeuillet-Olivo L and Le Calve M (2005) Fluorescent in situ hybridization (FISH) on paraffin-embedded placental tissues as an adjunct for, understanding the etiology of early spontaneous abortion. Prenat Diagn 25:314-317.
18. Ljunger E, Cnattingius S, Lundin C and Anneren G (2005) Chromosomal anomalies in first-trimester miscarriages. Acta Obstet Gynecol Scand 84:1103-1107.
19. Lomax B, Tang S, Separovic E, Phillips D, Hillard E, Thomson T and Kalousek DK (2000) Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions. Am J Hum Genet 66:1516-1521.
20. Nagaishi M, Yamamoto T, Iinuma K, Shimomura K, Berend SA and Knops J (2004) Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan. J Obstet Gynaecol Res 30:237-241.
21. Nikitina TV, Lebedev IN, Sukhanova NN, Sazhenova EA and Nazarenko SA (2005) A mathematical model for evaluation of maternal cell contamination in cultured cells from spontaneous abortions: Significance for cytogenetic analysis of prenatal sefection factors. Fertil Steril 83:964-972.
22. Reddy KS (1997) Double trisomy in spontaneous abortions. Hum Genet 101:339-345.
23. Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Krick M, Hansson K, Krepischi-Santos AC, Fiegiler H, et al. (2006) Array-CGH detection of micro. rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents. J Med Genet 43:180-186.
24. Salman M, Jhanwar SC and Ostrer H (2004) Will the new cytogenetics replace the old cylogenetics? Clin Genet 66:265-275.
25. Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH and Lese MC (2004) Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 74:1168-1174.
26. Shimokawa O, Harada N. Miyake N, Satoh K, Mizuguchi T, Niikawa N and Matsumoto N (2006) Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes. Am J Med Genet A 140:1931-1935.
27. Simoni G, Brambati B, Danesino C, Rossella F, Terzoli GL, Ferrari M and Fraccaro M (1983) Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 63:349-357.
28. Turteau C and Vekemans M (2005) Nouvelles données en génétique chromosomique. Med Sci 21:940-946 (Abstract in English).
29. Vorsanova SG, Kolotii AD, Iourov IY, Monakhov VV, Kirillova EA, Soloviev IV and Yurov YB (2005) Evidence for high frequency of chromosomal mosaicism in spontaneous abortions revealed by interphase FISH analysis. J Histochem Cytochem 53:375-380.
30. Yong PJ, Barrett IJ, Kalousek DK and Robinson WP (2003) Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet 40:175-182.