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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RESULTS

Following genetic counselling, approximately 32% of couples would opt for PGT, either because of chromosome rearrangements (88/284) or monogenic disorder (110/333). Referrals of performed PGT cycles are presented in tables 1 and 2. Of a total of 211 couples, there were 110 for PGT-M (Table 1), 88 carriers of either simple reciprocal chromosomal translocation or carriers of a complex or cryptic chromosome rearrangement for PGT-SR (table 2). In addition, there were 10 couples with sex chromosome mosaicism and 3 couples with repeated aneuploid concep- tion for PGT-A. The age of female partners engaged in our PGT program in selected years were as follows: average age of the females in the couples was 32.6 (25-38 years, median 33 years) in 2004-2016 and 33 years (24-39 years, median 33 years) in 2017-2019. Data collection of our PGT program throughout the years 2004-2019 are presented in the tables 3 and 4. A total of 211 couples underwent 375 PGT cycles. The most frequent indications were single gene disorder, followed by chromosome rearrangement, with X-linked disease being the least represented. There were 263 embryo transfers, which resulted in 94 clinical pregnancies, while 16 preg- nancies (16/94, 17%) ended in spontaneous miscarriage. Eighty-four unaffected children were born, examined by the paediatrician and geneticist. Embryo diagnosis was possible in 94% in the years 2004-2016 but dropped to 83% in years 2017-19. The diagnostic drop in the later years was mainly due to amplification failure or poor- quality biopsies. We present the data for years 2004-2016 and 2017- 19 separately because different biopsy and genetic testing methods were used. Data from 2004-2016 for FISH analysis for chromo- some rearrangements and multiplex PCR for monogenic disorders performed on blastomeres are collected in table 3. Altogether, the clinical pregnancy rate was 31% per embryo transfer. There were, on average, 4 embryos suit- able for biopsy per cycle. The miscarriage rate was 20% (10/51). There were 8 twin pregnancies and one triple pregnancy. In addition, two cases of hyperstimulation were reported. There were 11 cycles with no PGT either because oocytes were not fertilized, embryo arrest or poor-quality blastocysts. In 2017-19 we implemented TE biopsy and NGS based 24-chromosome screening for chromosome rear- rangements and aneuploidy screening. The data are rep- resented in table 4. Altogether, the clinical pregnancy rate was 43% per embryo transfer. There were, on average, 3 embryos suitable for biopsy per cycle. The miscarriage rate was 9% (4/43). There were no twin or triple pregnancies nor any cases of hyperstimulation reported. No cases of misdiagnosis were reported. There were 20 cycles with no PGT either because oocytes were not fertilized, there was embryo arrest or poor-quality blastocysts. We compared the clinical outcome between both pe- riods (2004-2016 versus 2017-19) using the Chi-square method with a p-value of less than 0.05 considered as significant. Implementation of blastocyst biopsy and chro- mosome-wide analysis significantly improved delivery rate per ET for chromosomal and monogenic indications in years 2017-19 (Chi-square 4.184, p= 0.03 and Chi-square 5.21, p= 0.02, respectively), while pregnancy rate per ET (Chi-square 3.08, p=0.07) was not statistically significant.

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