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Related Experiment Videos

Genomic changes detected by array CGH in human embryos with developmental defects.

E Rajcan-Separovic1, Y Qiao, C Tyson

  • 1Department of Pathology and Laboratory Medicine, University of British Columbia (UBC), Vancouver, BC, Canada, V5Z 4H4. eseparovic@cw.bc.ca

Molecular Human Reproduction
|September 26, 2009
PubMed
Summary
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Submicroscopic chromosomal changes, or copy number variants (CNVs), were identified in 29% of euploid embryonic miscarriages. These unique CNVs, some de novo, may explain developmental defects in chromosomally normal embryos.

Area of Science:

  • Human Embryology
  • Genetics
  • Reproductive Medicine

Background:

  • Embryoscopic and genetic evaluations reveal developmental abnormalities in most miscarriages, including euploid ones.
  • Similar morphological changes in euploid and non-euploid embryos suggest undetected lethal genetic factors in chromosomally normal miscarriages.

Purpose of the Study:

  • To investigate submicroscopic chromosomal changes (copy number variants or CNVs) in euploid embryonic miscarriages.
  • To identify novel CNVs and determine their origin (de novo or inherited) in chromosomally normal embryos with developmental defects.

Main Methods:

  • Whole genome array comparative genome hybridization (CGH) was employed to screen for submicroscopic chromosomal changes.
  • High-resolution custom arrays were used to refine the breakpoints of identified CNVs.

Related Experiment Videos

  • Parental array CGH analysis was performed to ascertain the origin of detected CNVs.

    • Main Results:

    • Six unique CNVs, all smaller than 250 kb, were identified in 5 out of 17 (29%) euploid miscarriages.
    • One de novo CNV (13q32.1) and one suspected de novo CNV (10p15.3) were detected.
    • Three CNVs were inherited, and one was of unknown origin, highlighting the role of unique CNVs in embryonic development.

    Conclusions:

    • This study reports the first identification of de novo and inherited unique CNVs in euploid human embryos with specific developmental defects.
    • Submicroscopic CNVs represent a significant cause of developmental abnormalities and miscarriage in chromosomally normal embryos.
    • Further research into these unique CNVs is crucial for understanding early human development and miscarriage.