Optimized PGT-M Strategy for Patients With No Proband

Inclusion Criteria

• •The couples intended for PGT-M without proband were recruited from Shanghai JiAi Genetics and IVF Institute, Obstetrics and Gynecology Hospital of Fudan University between January 2023 and December 2024, and were included in the study if they were expected to have difficulties in the identification of an EAP, typically meeting one of the following criteria:
• •1. the carrier of the pathogenic variant was without typical clinical symptoms or detected as gonadosomal mosaic;
• •2. the asymptomatic parents, who had one or more children affected with the same disorder, did not possess the genomic alterations carried by the children as per Sanger sequencing or targeted deep sequencing;
• •3. female partner with diminished ovarian reserve and therefore a low yield of embryos;
• •4. the variants are X-linked and the karyotype of the variant carrier is 47, XXX or 47, XXY etc.