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Updated: Jan 16, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
37.8K
Evidence-Based Reporting in Preimplantation Genetic Testing (PGT).
Maurizio Poli1, Ludovica Picchetta1, Laura Siciliani1,2
1Reproductive Genetics, Juno Genetics, 00188 Rome, Italy.
Genes
|September 27, 2025
Summary
Preimplantation genetic testing (PGT) reports guide decisions for IVF embryos. This review examines PGT
Area of Science:
- Reproductive Medicine and Genetics
- Embryology and Assisted Reproductive Technologies
Background:
- Preimplantation genetic testing (PGT) is crucial for embryo selection in IVF, influencing decisions about embryo disposal or storage.
- PGT has evolved from detecting monogenic disorders (PGT-M) and aneuploidies to analyzing complex genetic traits from trophectoderm biopsies.
- Increasing use of PGT in IVF cycles necessitates rigorous evaluation of its clinical validity and accuracy.
Purpose of the Study:
- To review gold standards for validating clinical findings in PGT.
- To assess reporting strategies for PGT results.
- To enhance diagnostic utility and minimize false positives for reproductive outcomes.
Main Methods:
- Review of established gold standards for validating genetic findings.
- Analysis of current reporting strategies in preimplantation genetic testing.
- Evaluation of technological advancements in genetic analysis of trophectoderm biopsies.
Main Results:
- Identification of chromosomal or genetic abnormalities impacts embryo fate.
- Advanced PGT methods can detect segmental aneuploidies, mosaicism, and polygenic conditions.
- Questions remain regarding the accuracy and representativeness of trophectoderm biopsy findings for the entire embryo.
Conclusions:
- There is a need for robust validation of PGT findings to ensure clinical utility.
- Optimized reporting strategies are essential for accurate interpretation of PGT results.
- Minimizing false positives in PGT is critical for appropriate reproductive decision-making.
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