Related Experiment Videos
Chromosome abnormalities in human arrested preimplantation embryos: a multiple-probe FISH study
1Department of Obstetrics and Gynecology, New York Hospital-Cornell University Medical Center, NY 10021.
American Journal of Human Genetics
|July 1, 1994
Summary
This study investigated numerical chromosome abnormalities in human embryos using a novel FISH technique. Most abnormal embryos exhibited polyploidy or mosaicism, suggesting widespread chromosomal issues in early development.
Area of Science:
- Reproductive biology
- Genetics
- Embryology
Background:
- Preimplantation genetic diagnosis is crucial for assessing embryo viability.
- Traditional methods for embryo analysis can be invasive and time-consuming.
Purpose of the Study:
- To develop and validate a rapid fluorescence in situ hybridization (FISH) technique for detecting numerical chromosome abnormalities in human preimplantation embryos.
- To assess the prevalence of chromosomal aberrations in morphologically abnormal embryos.
Main Methods:
- A 6-hour FISH procedure using fluorochrome-labeled DNA probes was developed.
- Simultaneous detection of chromosomes X, Y, and 18 was performed on single blastomeres from arrested or abnormal human embryos.
- Analysis included biopsy, fixation, and FISH, achieving an 86.5% success rate.
Main Results:
- Numerical aberrations were detected in 56.5% of the analyzed embryos.
- The majority of abnormal embryos were polyploid or mosaic.
- Aneuploidy for gonosomes or chromosome 18 was observed in 6.1% of embryos.
Conclusions:
- The developed FISH procedure is a reliable method for simultaneous ploidy assessment and embryo sexing.
- Numerical chromosome abnormalities are prevalent in arrested or morphologically abnormal human preimplantation embryos.
- The findings suggest that most developmental arrests in human embryos are linked to numerical chromosomal abnormalities.