FRAGILE X CARRIERS: IS THERE EXPANSION IN UTILIZATION OF PREIMPLANTATION GENETIC TESTING FOR MONOGENIC DISORDERS (PGT-M)?

Abstract

Fragile X (FgX) is a recommended part of carrier screening with pre- and full mutations associated with a spectrum of disease including intellectual disability, tremor ataxia syndrome and premature ovarian insufficiency. Risk of expansion is categorized based on number of CGG repeats.1 Testing for AGG interruptions can offer further risk assessment in some cases.1 As these tests become more commonplace, our objective was to determine how often screened patients select PGT-M for FgX.