Optical Genome Mapping for Prenatal Diagnosis in Fetuses With Structural Anomalies

Area of Science:

• Genetics
• Prenatal Diagnostics
• Genomic Medicine

Background:

• Prenatal diagnosis of fetal structural anomalies is crucial for early intervention.
• Existing methods may have limitations in detecting certain chromosomal aberrations.

Purpose of the Study:

• To evaluate the clinical utility of optical genome mapping (OGM) for prenatal diagnosis.
• To assess OGM's detection rates for chromosomal abnormalities in fetuses with structural anomalies.

Main Methods:

• Prospective study of 204 fetuses with structural anomalies.
• Application of optical genome mapping (OGM) for comprehensive genomic analysis.
• Subgroup analysis to compare diagnostic yields in different anomaly groups.

Main Results:

• OGM identified pathogenic or likely pathogenic chromosome aberrations in 13.7% of fetuses.
• Detected numerical abnormalities, copy number variations (CNVs), and balanced rearrangements.
• Significantly higher diagnostic yields observed in cystic hygroma and multisystem malformation groups.

Conclusions:

• Optical genome mapping (OGM) is a reliable and comprehensive technology for prenatal diagnosis.
• OGM offers high resolution and acceptable turnaround times.
• It is a powerful tool for identifying chromosomal aberrations in fetuses with structural anomalies.