Preimplantation Genetic Testing within the Public Healthcare System in Slovenia

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.