Balkan Journal of Medical Genetics

PREIMPLANTATION GENETIC TESTING WITHIN THE PUBLIC HEALTHCARE SYSTEM IN SLOVENIA
Volk M, Writzl K, Veble A, Jaklič H, Teran N, Prosenc B, Štimpfel M, Virant Klun I, Vrtačnik Bokal E, Ban Frangež H, Peterlin B
*Corresponding Author: Prof. Borut Peterlin, MD, PhD, Clinical institute of genomic medicine UMC Ljublja na, Šlajmerjeva 004, 1000 Ljubljana, Slovenia, Telephone: +3861 5226103, Fax: +3861 5401137, borut.peterlin@kclj.si
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INTRODUCTION

Preimplantation genetic testing (PGT) is an estab- lished procedure for couples at risk of transmitting a genetic disease to their offspring. PGT involves in vitro fertilization using ICSI and genetic analysis of the em- bryo prior to transfer and implantation. Such practice al- lows the selection of an unaffected embryo for the specific pathogenic variant tested, thus avoiding the termination of pregnancy following classical prenatal diagnostic test- ing. The first PGT procedure was performed in 1990 for sex selection of X-linked disorder in the United Kingdom (1, 2). With advances in assisted reproductive technology (ART) and molecular genetic methods, PGT has become an essential reproductive option as it significantly reduces the risk of affected offspring. Another motive for PGT is the reduced psychological burden and uncertainty of future parents. PGT can be performed for any severe monogenic dis- ease (PGT-M) or chromosome rearrangement (PGT-SR). In addition, preimplantation aneuploidy screening (PGT- A, formerly preimplantation genetic screening - PGS) is applied worldwide in a subgroup of infertile patients with normal karyotypes undergoing in vitro fertilization (3). Although the technical procedures for PGT-M, PGT-SR and PGT-A are similar, the indications differ. In Slovenia, prospective parents at risk of transmitting structural chromosome rearrangement or monogenic disease to their offspring may opt for PGT-SR or PGT-M, while PGT-A for infertile couples is not routinely practiced. However, PGT-A may be performed if a parent is a carrier of numeri- cal chromosome aberration. While modern PGT methodologies, performance, and outcomes of PGT services are similar between individual centres, the practices of how and to whom to offer PGT vary between countries depending on different jurisdic- tions and policy approaches (4). There is also limited data on what proportion of patients would opt for PGT as a first choice for testing instead of natural conception with classical prenatal diagnostics. We conducted a retrospective register-based study to present 15 years of development and provision of PGT within the public healthcare system in Slovenia.

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