Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and Variants

This study explored the influence of known and potential genes on prenatal lethality and preconception genetic carrier screening (PGCS) across diverse populations. Using bioinformatics, researchers identified essential genes for fetal survival, examined variants absent in homozygous states in healthy populations, and estimated heterozygous carrier rates for lethal conditions. A total of 3080 lethal genes were identified, with a high frequency of lethal variants in 163 genes within the general population. These findings highlight the need for a comprehensive, pan-ethnic PGCS panel, incorporating genes associated with miscarriage to enhance prenatal care and prevention efforts across various ethnic groups.