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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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Chromosomal Aneuploidies and Early Embryonic Developmental Arrest
Maria Maurer1, Thomas Ebner2, Manuela Puchner2
1Landes-Frauen-und Kinderklinik Linz, Department of Human Genetics, Krankenhausstraße, Linz, Austria ; Johannes Kepler University, Faculty of Medicine, Linz, Austria.
International Journal of Fertility & Sterility
|December 9, 2015
Summary
Chromosomal abnormalities are a primary cause of embryonic arrest in in vitro fertilization (IVF). Nearly 70% of arrested embryos show chromosomal errors, impacting pregnancy success rates.
Area of Science:
- Reproductive biology
- Genetics
- In vitro fertilization
Background:
- Embryonic developmental arrest is a significant challenge in in vitro fertilization (IVF).
- Chromosomal abnormalities are suspected contributors to developmental arrest and implantation failure.
- Identifying the causes of embryonic arrest is crucial for improving IVF success rates.
Purpose of the Study:
- To determine the frequency and types of chromosomal abnormalities in preimplantation embryos experiencing developmental arrest.
- To investigate the role of chromosomal errors in IVF treatment limitations.
Main Methods:
- A cohort study involving 119 arrested embryos from 45 couples undergoing IVF.
- Blastomeres were biopsied and analyzed using fluorescence in-situ hybridization (FISH).
- Probes targeted chromosomes 13, 16, 18, 21, and 22.
Main Results:
- 68.4% of arrested embryos exhibited chromosomal abnormalities.
- Specific abnormalities included aneuploidy (31.6%), polyploidy (17.6%), haploidy (2.5%), mosaicism (9.2%), and chaotic complements (18.5%).
- Only 31.6% of the arrested embryos were chromosomally normal.
Conclusions:
- Chromosomal abnormalities are prevalent in arrested embryos, identified in nearly 70% of cases.
- These abnormalities are a major factor contributing to embryonic arrest during IVF.
- Understanding these genetic errors may lead to improved embryo selection and higher IVF success rates.
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