Embryo Selection for a Carrier of an Early-Onset Alzheimer’s Disease-Associated Mutation in the PSEN1 Gene

Alzheimer’s disease (AD) is the most common neurodegenerative dementia. It manifests as early-onset or late-onset AD. Early-onset AD represents about 5.5% of the total cases and occurs in patients under age 65. The EOAD progresses more aggressively and has a shorter life expectancy due to a greater pathogenic load. We present two asymptomatic siblings, a 30-year-old male and a 34- year-old female, who are heterozygous carriers of a pathogenic variant c.428T>C (Ilel43Thr) in the presenilin 1 (PSEN1) gene. During genetic counseling, assisted reproduction techniques (ART) coupled with embryo biopsy and a preimplantation genetic test for monogenic disorders (PGT-M) were recommended to provide reproductive care for the patients and their partners. ART and preimplantation genetic testing (PGT) have made it possible to have chromosomally normal and genetically unaffected offspring, allowing patients with genetic diseases to become parents.