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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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A method for determining potential parental contamination: linkage disequilibrium-based log-likelihood ratio analysis
Le Bo1, Fangfang Dong2, Zhinan Wu1
1Reproductive Medical Center, First Affiliated Hospital of Soochow University, 899 Pinghai Rd, Suzhou, Jiangsu Province, 215006, China.
Reproductive Biology and Endocrinology : RB&E
|October 21, 2024
Summary
A new IVF-PGTA assay accurately detects parental contamination in embryos, enabling conventional in vitro fertilization (cIVF) for preimplantation genetic testing (PGT). This method enhances PGT success for couples facing infertility challenges.
Area of Science:
- Reproductive biology
- Genetics
- Bioinformatics
Background:
- Conventional in vitro fertilization (cIVF) is explored as an alternative to intracytoplasmic sperm injection (ICSI) for preimplantation genetic testing (PGT).
- Parental contamination from sperm or cumulus cells limits cIVF embryo PGT.
Purpose of the Study:
- To develop and validate an IVF-PGTA assay for detecting parental contamination in cIVF embryos.
- To establish a contamination prediction model using allele frequencies and linkage disequilibrium (LD).
Main Methods:
- Established an IVF-PGTA assay incorporating a contamination prediction model based on allele frequencies and LD.
- Computed log-likelihood ratio (LLR) under competing ploidy hypotheses.
- Compared SNP-based and LLR-based analyses on 40 cIVF embryos for contamination and ploidy concordance.
Main Results:
- The IVF-PGTA assay accurately detected 10% maternal contamination and eliminated sperm cell contamination.
- LLR-based and SNP-based analyses showed no paternal contamination in 40 cIVF embryos.
- LLR-based analysis identified 24% maternal contamination in one trophectoderm (TE) biopsy and a triploid embryo of paternal origin.
Conclusions:
- Developed a novel bioinformatics analysis method for identifying parental contamination in IVF-PGT.
- The method is particularly beneficial for couples with non-male factor infertility undergoing PGT.
