Low-Pass Genome Sequencing Reveals Associations Between Chromosomal Aberrations and Ultrasonographic Anomalies in a Cohort of 19,452 Fetuses.

Key Points

• The research aims to explore the relationship between chromosomal abnormalities and ultrasonographic anomalies in a large cohort of fetuses.
• Conducted low-pass genome sequencing on a cohort of 19,452 fetuses
• Analyzed phenotype-specific differences in diagnostic yields
• Expanded understanding of certain pCNVs
• Identified associations between chromosomal aberrations and ultrasonographic anomalies
• Highlighted variations in diagnostic yield based on specific phenotypes