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Chromosome mosaicism in human embryos

S Munné¹, H U Weier, J Grifo

¹Center for Reproductive Medicine and Infertility, New York Hospital-Cornell University Medical Center, New York 10021.

Biology of Reproduction

|September 1, 1994

Summary

Human embryo mosaicism, the presence of different chromosome complements, can occur early. This study used fluorescence in situ hybridization (FISH) to find mosaicism in human embryos, identifying it at the first or second cell division.

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Area of Science:

Reproductive Biology
Human Genetics
Developmental Biology

Background:

Human embryo mosaicism can arise before implantation.
Analyzing blastomere chromosomal complements is crucial for understanding early development.
Conventional karyotyping of early human embryos is technically challenging.

Purpose of the Study:

To determine the earliest stage of mosaicism occurrence in preimplantation human embryos.
To assess the frequency of mosaicism in different types of human embryos.
To utilize fluorescence in situ hybridization (FISH) for accurate mosaicism detection.

Main Methods:

FISH analysis was performed on blastomeres from 2- to 12-cell human embryos.
Probes for gonosomes and chromosome 18 were used.

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Analysis included morphologically normal monospermic, abnormal monospermic, and dispermic embryos.

Main Results:

Mosaicism was detected in 17.1% of normal monospermic embryos and 28.8% of abnormal monospermic embryos.
A high rate of mosaicism (75.7%) was observed in dispermic embryos.
Mosaicism was found to occur at the first cleavage division in haploid/polyploid/dispermic embryos and the second cleavage division in diploid embryos.

Conclusions:

Mosaicism in human embryos can originate as early as the first or second cleavage division.
The stage of mosaicism occurrence is dependent on the ploidy status of the embryo.
FISH is an effective method for detecting mosaicism in early human embryos.