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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
[Efficiency comparison between two preimplantation genetic diagnostic methods for chromosomal translocation
Yan-Wen Xu1, Xiu-Lian Ren, Ying Liu
1Reproductive Medicine Center, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.
Zhonghua Fu Chan Ke Za Zhi
|December 18, 2008
Summary
Blastomere preimplantation genetic diagnosis (PGD) shows higher diagnostic efficiency than polar body PGD for chromosomal translocation carriers, despite similar clinical pregnancy and implantation rates. This study highlights blastomere PGD as a more effective diagnostic approach.
Area of Science:
- Reproductive Medicine
- Genetics
- Embryology
Background:
- Preimplantation genetic diagnosis (PGD) is crucial for chromosomal translocation carriers.
- Comparing diagnostic methods like blastomere versus polar body PGD is essential for optimizing outcomes.
Purpose of the Study:
- To evaluate and compare the diagnostic efficiency of blastomere PGD versus polar body PGD.
- To determine the most effective PGD approach for individuals with chromosomal translocations.
Main Methods:
- Group A utilized whole painting probes for first polar body diagnosis (n=8 cycles).
- Group B employed subtelomeric and centromeric probes for blastomere diagnosis (n=29 cycles).
- Diagnostic efficiency, fertilization rates, biopsy success, fixation loss, and no-signal rates were assessed.
Main Results:
- Blastomere PGD (Group B) demonstrated significantly higher fertilization rates (85.2%) and diagnostic efficiency (89.8%) compared to polar body PGD (Group A: 66.1%, 72.5%).
- Polar body PGD showed higher rates of fixation loss and no signals post-FISH analysis.
- Clinical pregnancy and implantation rates were not significantly different between the groups.
Conclusions:
- Both blastomere and polar body PGD are viable for chromosomal translocation carriers.
- Blastomere PGD offers a superior diagnostic rate and efficiency in this patient population.
