Previous study has reported two successful cases of PGT-M intervention in CSA type due to mutations in the ERCC8 gene, emphasizing the efficacy of PGT-M in treating hereditary neurological diseases or metabolic disorders with nervous system phenotypes (Zou et al., 2024).In this study, after receiving detailed genetic counseling from the parents of the proband, genetic disease-related testing was performed on blastocysts implanted in the mother’s body using PGT-M technology. The gene discussed is ERCC8; the disease is Other metabolic disease.