Genomic Insights into Stillbirth

This editorial examines the role of genomic sequencing in understanding the genetic causes of stillbirth, defined as fetal loss after 20 weeks of gestation. Despite standard postmortem evaluations, many cases remain unexplained. The article highlights a study by Stanley et al., which used exome sequencing to identify plausible genetic diagnoses in 8.5% of unexplained stillbirth cases, suggesting that monogenic disorders may contribute to these losses. The editorial discusses the limitations of current diagnostic methods and advocates for broader use of genomic technologies, including genome sequencing, to uncover genetic variants that may not be detected by conventional cytogenetic techniques. These insights could improve diagnostic yields and enhance our understanding of fetal development and lethal genetic disorders.

This editorial examines the role of genomic sequencing in understanding the genetic causes of stillbirth, defined as fetal loss after 20 weeks of gestation. Despite standard postmortem evaluations, many cases remain unexplained. The article highlights a study by Stanley et al., which used exome sequencing to identify plausible genetic diagnoses in 8.5% of unexplained stillbirth cases, suggesting that monogenic disorders may contribute to these losses. The editorial discusses the limitations of current diagnostic methods and advocates for broader use of genomic technologies, including genome sequencing, to uncover genetic variants that may not be detected by conventional cytogenetic techniques. These insights could improve diagnostic yields and enhance our understanding of fetal development and lethal genetic disorders.