Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing.

ABSTRACT:

Background

Balanced reciprocal translocation (BRT) is one of the most common chromosomal abnormalities that causes infertility, recurrent miscarriage, and birth defects. Preimplantation genetic testing (PGT) is widely used to select euploid embryos for BRT carriers to increase the chance of a healthy live birth. Several strategies can be used to distinguish reciprocal translocation carrier embryos from those with a normal karyotype; however, these techniques are time-consuming and difficult to implement in clinical laboratories. In this study, nanopore sequencing was performed in two reciprocal translocation carriers, and the results were validated using the next-generation sequencing-based method named, "Mapping Allele with Resolved Carrier Status" (MaReCs).

Results

The tra

SUBMITTER: Xia Q 

PROVIDER: S-EPMC9809107 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature