Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia.

ABSTRACT:

Background

This study aimed to evaluate the ability of next-generation sequencing (NGS) to conduct preimplantation genetic testing (PGT) for thalassemia using affected embryos.

Methods

This study included data from 36 couples who underwent PGT for thalassemia without probands and relative pedigrees. NGS results were compared with prenatal diagnosis results.

Results

Thirty-six couples (29 α-thalassemia and 7 β-thalassemia) underwent 41 PGT cycles (31 α-thalassemia and 10 β-thalassemia). Analysis using NGS produced conclusive results for all biopsied blastocysts (100%, 217/217). One hundred and sixty (73.7%, 160/217) were unaffected by thalassemia. Preimplantation genetic testing for aneuploidy revealed that 112 (70.0%, 112/160) were euploid. Single blastocysts were tra

SUBMITTER: Ou Z 

PROVIDER: S-EPMC9055750 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature