Comprehensive preimplantation genetic testing for balanced insertional translocation carriers

单倍型 基因检测 生物 一致性 基因分型 遗传学 胚胎 染色体易位 植入前遗传学诊断 不育 怀孕 产科 医学 基因型 基因
作者
Shuo Zhang,Zhenle Pei,Min Xiao,Jing Zhou,Bin Hu,Saijuan Zhu,Xiaoxi Sun,Junping Wu,Caixia Lei,Congjian Xu
出处
期刊:Journal of Medical Genetics [BMJ]
卷期号:61 (8): 794-802
标识
DOI:10.1136/jmg-2024-109851
摘要

Background Balanced insertional translocations (BITs) can increase the risk of infertility, recurrent miscarriages or neonatal birth defects due to chromosomal imbalances in gametes. However, studies on preimplantation genetic testing (PGT) for patients carrying BITs are inadequate. Methods A preimplantation genetic genotyping and haplotype analysis approach was developed and implemented in this study. Genome-wide SNP genotyping was performed, followed by core family-based haplotype analysis. The balanced insertion segments in euploid embryos were inferred from the haplotypes inherited from the carrier parent. Results A total of 10 BIT carrier couples were enrolled in our study. 15 in vitro fertilisation cycles were conducted, resulting in 73 blastocysts biopsied and subjected to PGT analysis. Among these, 20 blastocysts displayed rearrangement-related imbalances, 13 exhibited de novo aneuploidies, 15 presented a complex anomaly involving both imbalances and additional aneuploidies, while 25 were euploid. Within the euploid embryos, 12 were balanced carrier embryos and 13 were non-carrier embryos. To date, eight non-carrier and one carrier embryos have been transferred, resulting in seven clinical pregnancies. All pregnancies were recommended to perform prenatal diagnosis, our date revealed complete concordance between fetal genetic testing results and PGT results. Presently, five infants have been born from these pregnancies, and two pregnancies are still ongoing. Conclusion The proposed method facilitates comprehensive chromosome screening and the concurrent identification of balanced insertions or normal karyotypes in embryos. This study offers an effective and universally applicable strategy for BIT carriers to achieve a healthy pregnancy and prevent the transmission of BITs to their offspring.
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