The CFTR K464N variant in fetuses potential increases premature birth risk in Chinese families.

ABSTRACT:

Background

Global fertility decline has led to increased use of assisted reproductive technology (ART), raising concerns about genetic risks to offspring. This study aimed to investigate cystic fibrosis transmembrane conductance regulator (CFTR) variants in Chinese families and assess their association with pregnancy complications and neonatal outcomes.

Methods

This prospective cohort study included 446 Chinese families (148 natural conceptions, 298 ART conceptions) who underwent whole genome sequencing. We analyzed the frequency of pathogenic/likely pathogenic CFTR variants and their association with preterm birth (PTB), pregnancy complications, and neonatal outcomes.

Results

Twelve pathogenic/likely pathogenic CFTR variants were identified, with K464N (c.1392G > T)

SUBMITTER: Li J 

PROVIDER: S-EPMC11905445 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature