Application of microdeletion and microduplication screening in preimplantation genetic testing: a case report.

ABSTRACT:

Background

Microdeletions and microduplications are chromosomal variants ranging up to 3 Mb in size. These abnormalities often arise spontaneously and have significant clinical implications, including developmental delay and congenital anomalies. Given the resolution of conventional preimplantation genetic testing for aneuploidy is > 5-10 Mb, these clinically significant abnormalities are missed. This study presents two cases where preimplantation genetic testing-whole genome sequencing successfully identified small, clinically significant abnormalities.

Case presentation

In the first case, a couple undergoing in vitro fertilization opted to pursue preimplantation genetic testing-whole genome sequencing. Both the female patient (of East Asian ancestry, 32 years old) and the

SUBMITTER: Katz M 

PROVIDER: S-EPMC12910960 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature