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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
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[GENOMIC VARIABILITY DURING PREGNANCY TRIMESTERS]
T Jokhadze1, T Buadze1, M Gaiozishvili1
11Iv. Javakhishvili Tbilisi State University, Department of Genetics; Georgia.
Georgian Medical News
|January 10, 2022
Summary
Pregnancy genome stability remains largely consistent, with a notable increase in fragile sites during the first trimester. Protein synthesis shows elevated activity throughout pregnancy, particularly in the third trimester.
Area of Science:
- Genetics
- Reproductive Biology
- Cellular Biology
Background:
- Understanding genome stability during pregnancy is crucial for monitoring fetal development and maternal health.
- Previous studies have indicated potential genomic changes during gestation, but trimester-specific variations require further elucidation.
Purpose of the Study:
- To investigate the trimester-specific functional variability of genome stability and ribosomal cistone activation in pregnant women.
- To compare genomic parameters between different pregnancy trimesters and healthy non-pregnant women.
Main Methods:
- Analysis of chromosomal aberrations and fragile sites frequencies across trimesters.
- Assessment of ribosomal cistone activation through Nucleolar organizing regions (NORs) and acrocentric chromosome associations.
- Comparison with control groups of non-pregnant healthy women.
Main Results:
- Genome stability, measured by chromosomal aberrations and fragile sites, did not significantly differ from non-pregnant controls, except for a higher frequency of fragile sites in the first trimester.
- Specific genomic variations observed include deheterochromatization and heterochromatinization patterns.
- Increased activity of the protein-synthesizing apparatus was indicated by elevated NORs activation and acrocentric chromosome associations in all trimesters, with a significant increase in the third trimester.
Conclusions:
- Pregnancy maintains overall genome stability, with the first trimester showing a unique characteristic of increased fragile site frequency.
- Elevated protein synthesis activity is a consistent feature throughout pregnancy, suggesting adaptation to increased metabolic demands.
- Trimester-specific genomic modifications may occur, particularly concerning acrocentric chromosome associations in the third trimester.
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