Optimized PGT-M Strategy Using Gametes or Arrested Embryos from Patients with No Proband
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 5
- 试验地点
- 1
- 主要终点
- Consistence of the PGT-M with prenatal diagnosis with amniocentesis
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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:
- •the carrier of the pathogenic variant was without typical clinical symptoms or detected as gonadosomal mosaic;
- •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;
- •female partner with diminished ovarian reserve and therefore a low yield of embryos;
- •the variants are X-linked and the karyotype of the variant carrier is 47, XXX or 47, XXY etc.
排除标准
- •(1) Non-PGT-M families; (2) Pedigree of other proband samples can be obtained; (3) Patients seeking for PGT-M who strongly request no haplotype analysis in embryos and only require Sanger testing after being fully informed of the risk.
结局指标
主要结局
Consistence of the PGT-M with prenatal diagnosis with amniocentesis
时间窗: 16 weeks of gestation
whether the PGT-M result of the embryos are consistent with the prenatal genetic testing result of amniocentesis
次要结局
未报告次要终点