Array-based comparative genomic hybridization (ARRAY-CGH) in analysis of chromosomalaberrations and CNV in blighted ovum pregnancies

Abstract

Application of modern molecular cytogenetic technologies in research and clinical practice provides unprecedented possibilities for high resolution molecular karyotyping in different areas of clinical cytogenetics. In this study the oligonucleotide-based array-CGH data about unbalanced chromosomal aberrations and copy number variations (CNV) in blighted ovum pregnancies are presented. Analysis of genes content of involved chromosomal regions was done. Scopes, perspectives and limitations of aCGH application into analysis of early pregnancy losses are discussed.

Keywords

blighted ovum / array-based comparative genomic hybridization (aCGH) / unbalanced chromosomal aberrations / copy number variation (CNV)

References

[1] База данных «Gene». URL: http://www.ncbi.nlm.nih.gov/gene (Дата обращения 05.04.2013).

[2] База данных геномных вариантов (DGV). URL: http://projects.tcag.ca/variation (Дата обращения 05.04.2013).

[3] Баранов В. С., Кузнецова Т. В. Цитогенетика эмбрионального развития человека: научно-практические аспекты. — СПб.: Издательство Н-Л, 2007. — 640 с.

[4] Каталог наследственных болезней человека МакКьюсика (OMIM). URL: http://www.ncbi.nlm.nih.gov/omim (Дата обращения 05.04.2013).

[5] Молекулярное кариотипирование (aCGH) как современный подход к исследованию причин невынашивания беременности / Никитина Т. В. [и др.] // Медицинская генетика. — 2013. — Т. 12, № 1. — С. 26–35.

[6] Array comparative genomic hybridization analysis in first — trimester spontaneous abortions with «normal» karyotypes /Shimokawa O. [et al.] // Am. J. Med. Genet. — 2006. — Vol. 140. — P. 1931–1935.

[7] Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples / Menten B. [et al.] // BMC Med. Genet. — 2009. — Vol. 14. — P. 89–93.

[8] Array comparative genomic hybridization for genetic evaluation of fetal loss between 10 and 20 weeks of gestation / Warren J. E. [et al.] // Obstet. Gynecol. — 2009. — Vol. 114. — P. 1093–1102.

[9] Array comparative genomic hybridization profiling of first — trimester spontaneous abortions that fail to grow in vitro / Benkhalifa M. [et al.] // Prenat. Diagn. — 2005. — Vol. 25. — P. 894–900.

[10] Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion / Gao J. [et al.] // Mol. Cytogenet. — 2012. — Vol. 16, N 5.

[11] Array-CGH testing in spontaneous abortions with normal karyotypes / Borovik C. L. [et al.] // Genet. Mol. Biol. — 2008. — Vol. 31. — N 2. — P. 416–422.

[12] Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages / Schaeffer A. J. [et al.] //Am. J. Hum. Genet. — 2004. — Vol. 74. — P. 1168–1174.

[13] Cytogenetic analyses of culture failures by comparative genomic hybridization (CGH) — Re-evaluation of chromosome aberration rates in early spontaneous abortions / Fritz B. [et al.] // Eur. J. Hum. Genet. — 2001. — Vol. 9. — P. 539–547.

[14] Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss / Robberecht C. [et al.] // Prenat. Diagn. — 2012. — Vol. 4. — P. 1–10.

[15] Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls / Robberecht C. [et al.] // Genet. Med. — 2009. — Vol. 11. — P. 646–654.

[16] Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification / Deshpande M. [et al.] // Genet. Test. Mol. Biomarkers. — 2010. — Vol. 14, N 3. — P. 421–424.

[17] Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis /Lebedev I. N. [et al.] // Eur. J. Hum. Genet. — 2004. — Vol. 12, N 7. — P. 513–520.

[18] Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and array CGH / Zhang Y. X. [et al.] // Clin. Genet. — 2009. — Vol. 75. — P. 133–140.

[19] Genomic changes detected by array CGH in human embryos with developmental defects / Rajcan-Separovic E. [et al.] //Mol. Hum. Reprod. — 2010. — Vol. 16. — P. 125–134.

[20] Identification of copy number variants in miscarriage from couples with idiopathic recurrent pregnancy loss / Rajcan-Separovic E. [et al.] // Hum. Reprod. — 2010. — Vol. 25. — P. 2913–2922.

[21] Lebedev I. N. Mosaic aneuploidy in early fetal losses // Cytogenet. Genome Res. — 2011. — Vol. 133, N 2–4. — P. 169–183.

RIGHTS & PERMISSIONS

Lebedev I.N., Kashevarova A.A., Skryabin N.A., Nikitina T.V., Lopatkina M.Y., Melnikov A.A., Sazhenova Y.A., Ivanova T.V., Yevtushenko I.D.