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Updated: May 5, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Preimplantation Genetic Testing within the Public Healthcare System in Slovenia
1Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Insights
Preimplantation genetic testing (PGT) offers early prenatal diagnosis for severe genetic diseases. In Slovenia, PGT services within public healthcare are a viable option for about a third of at-risk couples, with outcomes comparable to larger centers.
Area of Science:
- Reproductive Medicine
- Clinical Genetics
- Public Health
Background:
- Preimplantation genetic testing (PGT) is a crucial prenatal diagnostic tool for couples at risk of transmitting severe genetic disorders.
- Established PGT services are vital for informed family planning and reducing the incidence of genetic diseases.
- The integration of PGT into public healthcare systems is essential for accessibility and equitable care.
Purpose of the Study:
- To present 15 years of PGT service data from UMC Ljubljana within Slovenia's public healthcare system.
- To compare clinical outcomes of PGT for chromosomal and monogenic diseases using various embryo biopsy and testing methods.
- To assess PGT's adoption rate compared to traditional prenatal diagnosis.
Main Methods:
- A retrospective register-based study analyzing PGT cycles from 2004 to 2019.
- Data collection included patient demographics, genetic indications, biopsy techniques (blastomere vs. blastocyst), and clinical outcomes.
- Comparison of pregnancy and delivery rates across different PGT approaches and time periods.
Main Results:
- 211 couples underwent PGT for single gene disorders, structural chromosome rearrangements, or numerical aberrations.
- 263 embryo transfers resulted in 78 deliveries and 84 children.
- Clinical pregnancy rates per embryo transfer increased from 31% (2004-2016, blastomere biopsy) to 43% (2017-2019, blastocyst biopsy).
Conclusions:
- PGT services within Slovenia's public healthcare system are a significant option for couples planning pregnancies and at risk of genetic disease transmission.
- Approximately one-third of couples opt for PGT, while others prefer natural conception with prenatal diagnosis.
- The study demonstrates that PGT in Slovenia yields clinical results comparable to larger international centers, despite a smaller volume of cycles.
Abstract:
Preimplantation genetic testing (PGT) is the earliest form of prenatal diagnosis that has become an established procedure for couples at risk of passing a severe genetic disease to their offspring. At UMC Ljubljana, we conducted a retrospective register-based study to present 15 years of PGT service within the public healthcare system in Slovenia. We collected the data of the PGT cycles from 2004 to 2019 and compared clinical outcomes for chromosomal and monogenic diseases using different embryo biopsy and testing approaches. In addition, we assessed the extent to which PGT has become the preferred option compared to classic prenatal diagnostics. We treated 211 couples, 110 with single gene disorder, 88 with structural chromosome rearrangement and 13 for numerical chromosome aberration. There were 375 PGT cycles with oocyte retrieval, while embryo transfer was possible in 263 cases resulting in 78 deliveries and 84 children. Altogether, the clinical pregnancy rate per embryo transfer was 31% in 2004-2016 (blastomere biopsy) and 43% in 2017-19 (blastocyst biopsy), respectively. We assessed that approximately a third of couples would opt for PGT, while the rest preferred natural conception with prenatal diagnosis. Our results show that providing a PGT service within the public healthcare system has become a considerable option in pregnancy planning for couples at risk of transmitting a severe genetic disease to their offspring. In Slovenia, approximately a third of couples would opt for PGT. Although the number of cycles is small, our clinical results are comparable to larger centres.
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