NCT06722313

Optimized PGT-M Strategy for Patients With No Proband

Optimized PGT-M Strategy Using Gametes or Arrested Embryos From Patients With No Proband

• Status: Enrolling By Invitation
• Phase: N/A
• Study type: Interventional
• Enrollment: 5 (estimated)
• Sponsor: ShangHai Ji Ai Genetics & IVF Institute · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

The clinical practice of PGT-M for monogenetic disease usually adopted a double-checking strategy, which detect the mutation by Sanger sequencing and meantime construct haplotypes using the DNA sample of the proband so as to avoid the risks of misdiagnosis due to recombination and allele drop out (ADO). When there is no affected parent or offspring to serve as the proband, embryo carriers identified through direct mutation detection can be preferentially taken as probands for subsequent linkage analysis. In cases where none of the embryos are detected as mutant carrier, single sperm or the second polar body (PB2) can be complementally collected in the work-up of haplotype establishment. Our study aims to develop an optimized strategy of haplotype construction using gametes or arrested embryos for PGT-M in pedigrees with single gene diseases and no proband in the setting of difficult cases, which takes into account the expected number of oocytes acquired and the gonadal mosaicism.

Conditions

• De Novo Mutation
• Preimplantation Genetic Testing
• Without Proband

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a proband	1. Targeted deep sequencing for mosaicism detection for patients with suspected gonadal mosaicism, eg. Repeated similar abortion due to the same variant while the couple were tested negative for the variant in the peripheral blood. 2. Ovarian stimulation, embryo culture, biopsy and vitrification as routinely used in the IVF clinical practice. 3. Gametes and arrested embryo preservation by the embryo laboratory during embryo culture. 4. Genetic testing, including multiple displacement amplification for WGA, variant sequencing in WGA products and Infinium Chip protocol for amplified DNA and haplotype analysis

Timeline

• Start date: 2023-01-01
• Primary completion: 2024-12-31
• Completion: 2024-12-31
• First posted: 2024-12-09
• Last updated: 2024-12-09

Locations

1 site across 1 country: China