Prenatal Screening and Diagnostics

Noninvasive Prenatal Screening at Low Fetal Fraction: Comparing Whole- Genome Sequencing and Single-Nucleotide Polymorphism Methods

This study compares whole-genome sequencing and SNP methods for noninvasive prenatal screening at low fetal fractions, finding WGS detects more aneuploidies and avoids unnecessary invasive procedures.

Abnormally high levels of serum α-klotho result in a poor outcome for clinical pregnancy-A prospective cohort study-

This study finds higher serum alpha klotho levels during the follicular phase are associated with increased chromosomal abnormalities in unborn children.

Inference of maternal allele inheritance via Bayesian hierarchical model in noninvasive prenatal diagnosis

This paper introduces a Bayesian hierarchical model to infer maternal allele inheritance in noninvasive prenatal diagnosis, showing improved accuracy and robustness compared to existing methods.