TRENDS IN PREIMPLANTATION GENETIC TESTING FOR MONOGENIC DISORDERS (PGT-M)

With increased availability of genetic testing, particularly expanded carrier screening (ECS) and hereditary cancer (HC) the scope conditions for which PGT-M is performed expanding. Our aim was to report on indications from past decade in our large academic practice. All cases occurring between January 2010 April 2021 were reviewed. A total 331 patients identified 124 different genes over 582 cycles. Eighteen tested two one patient three genes; therefore, there a 351 unique cases. Of tested, 82 (66.1%) childhood onset while 16 (12.9%) adult onset, remaining 26 (21.0%) variable onset. Over entire study period, 70/351 (19.9%) related HC syndromes; 2010-2017, HC-related accounted 12.6% (20/159) volume, since 2018, it rose 26.0% (50/192). Overall, BRCA1 most common gene practice, breast ovarian syndrome (BRCA1 BRCA2) 15.1% (53/351) population. 181/351 (51.6%) 49 that are commonly found ECS, with cystic fibrosis (CFTR) being (34/351) followed by fragile X (FMR1; 32/351); these represented second third practice (9.7% 9.1% respectively). all doing ECS-related conditions, 46.4% (84/181) 41 not detected traditional or ethnicity-based screening, GJB2-related nonsyndromic hearing loss (the fourth condition representing 6.6% volume), 21-hydroxylase deficient congenital adrenal hyperplasia (CYP21A2) familial Mediterranean fever (MEFV). There eight (2.3%) who either could have been current 283-disease ECS panel but would missed prior 176-disease panel. Eight did HLA matching, non-disclosure (two Huntington’s disease/HTT CADASIL/NOTCH3). 80/124 (64.5%) single patient. wide range nearly two-thirds clinic While childhood-onset, population, proportion testing syndromes has doubled years. More than half pursued detectable through screening; however, increasing size more 100 only had minor effect uptake.