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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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Comprehensive preimplantation genetic testing for balanced insertional translocation carriers.
Shuo Zhang1, Zhenle Pei1, Min Xiao1
1Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, Shanghai, China.
Journal of Medical Genetics
|May 27, 2024
Summary
Preimplantation genetic testing (PGT) using genotyping and haplotype analysis effectively identifies balanced insertions in embryos from balanced insertional translocation (BIT) carriers. This strategy enables healthy pregnancies and prevents BIT transmission.
Area of Science:
- Reproductive genetics
- Human genetics
- Genomic medicine
Background:
- Balanced insertional translocations (BITs) increase risks of infertility, miscarriage, and birth defects due to gamete chromosomal imbalances.
- Limited studies exist on preimplantation genetic testing (PGT) for BIT carriers.
Purpose of the Study:
- To develop and implement a PGT approach for BIT carriers.
- To identify euploid embryos with balanced insertions or normal karyotypes.
- To prevent the transmission of BITs to offspring.
Main Methods:
- Developed a PGT method combining genotyping and haplotype analysis.
- Performed genome-wide SNP genotyping and core family-based haplotype analysis.
- Inferred balanced insertion segments in euploid embryos from parental haplotypes.
Main Results:
- 10 BIT carrier couples underwent 15 IVF cycles, with 73 blastocysts analyzed.
- 25 euploid embryos were identified, including 12 balanced carrier and 13 non-carrier.
- Eight non-carrier and one carrier embryos transferred resulted in seven pregnancies with confirmed PGT concordance via prenatal diagnosis.
- Five infants have been born, with two ongoing pregnancies.
Conclusions:
- The PGT method enables comprehensive chromosome screening and identification of balanced insertions or normal karyotypes.
- This strategy is effective and universally applicable for BIT carriers seeking healthy pregnancies.
- The approach successfully prevents the transmission of BITs to offspring.
