Publications by authors named "Xueqian Liao"
Article Synopsis
- The study aimed to identify harmless large chromosomal duplications (>5 Mb) through long-term clinical follow-ups of affected fetuses and their families.
- Researchers analyzed fetuses with these duplications, conducting genetic tests and phenotype assessments, discovering eight cases where duplications ranged from 5.3 to 12.2 Mb across various chromosomes.
- The findings concluded that all carriers were asymptomatic, providing useful data for genetic counseling regarding these large duplications that have been passed through generations without causing any noticeable health issues.
Objective: To evaluate whether the fetal fraction of cell-free DNA at the first and second trimesters is associated with spontaneous preterm birth.
Methods: This was a retrospective cohort study with singleton pregnancies who underwent noninvasive prenatal testing. According to pregnancy outcome, eligible patients were divided into a delivery group ≥37 weeks of pregnancy (term group) and <37 weeks of pregnancy (spontaneous preterm group).
Background: Xp22.31 deletion and duplication have been described in various studies, but different laboratories interpret pathogenicity differently.
Objectives: Our study aimed to refine the genotype-phenotype associations between Xp22.