Nuclear chromosomal localization in human preimplantation embryos: correlation with aneuploidy and embryo morphology

Authors: Laurie J. McKenzie; Sandra A. Carson; Susan Marcelli; Erin Rooney; Pauline Cisneros; Sergy Torskey; John Buster; Joe Leigh Simpson; Farideh Z. Bischoff

Source: Human Reproduction, Volume 19, Number 10, October 2004 , pp. 2231-2237(7)

Publisher: Oxford University Press

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Abstract:

BACKGROUND: Spatial organization of chromosomes is hypothesized to reflect transcriptional activity and regulatory protein function. Preimplantation genetic diagnosis allows assessment of the spatial relationship of chromosomes in human blastomeres. We thus examined the localization of chromosomes 13, 16, 18, 21, 22, X and Y in blastomeres from 6–8-cell stage embryos, correlating localization to aneuploidy and embryo morphology. METHODS: Following fluorescence in situ hybridization to enumerate chromosomes 13, 16, 18, 21, 22, X and Y, signal positions were localized within one of four concentric shells. Statistical analysis compared chromosome localization between euploid and aneuploid blastomeres as well as morphologically normal and abnormal embryos. RESULTS: Of 98 embryos, 109 blastomeres were evaluated. Within chromosomally normal blastomeres, no difference in the location of all seven chromosomes (P

0.10) was observed. However, a significant difference was observed between the organization of chromosomes in euploid versus aneuploid blastomeres (P

0.001). Localization of chromosomes 13, 18, 21 and 22 was significantly different when an abnormality involving that chromosome existed (P

0.001, P

0.01, P

0.025 and P

0.01 respectively). CONCLUSIONS: We report for the first time that localization of chromosomes is altered in chromosomally aneuploid but not in chromosomally normal nor morphologically abnormal euploid blastomeres.

Keywords: aneuploidy; chromosomal nuclear localization; preimplantation genetic diagnosis

Document Type: Research article

DOI: http://dx.doi.org/10.1093/humrep/deh391

Affiliations: 1: Departments of Obstetrics and Gynecology and

Publication date: 2004-10-01

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Human Reproduction features full-length, peer-reviewed papers reporting original research, clinical case histories, as well as opinions and debates on topical issues. Papers published cover the scientific and medical aspects of reproductive physiology and pathology, endocrinology, andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology, ethics and social issues. The highest scientific and editorial standard is maintained throughout the journal along with a rapid rate of publication.

Nuclear chromosomal localization in human preimplantation embryos: correlation with aneuploidy and embryo morphology

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