Prenatal Trio-Exome Sequencing Diagnostic Yield for 86 Fetuses

A multicenter, prospective study evaluating high-throughput sequencing performance in selected prenatal indications. Trio-exome sequencing was performed on 86 fetuses, yielding a definite etiological diagnosis in 28% of cases. The dataset, authored by Manon Chretien and last updated in May 2026, illustrates the complexity of interpreting prenatal genetic testing.

Use Cases

• Compare diagnostic yield between targeted gene panels and exome sequencing based on the study's comparative design
• Analyze variant types and associated genes for specific prenatal indications like vermian hypoplasia based on the results summary
• Assess the impact of an etiological diagnosis on pregnancy management based on the study's conclusion
• Investigate the prevalence of mosaic variants in prenatal diagnoses based on the identified RHOA case

Strengths

• Results are based on a multicenter, prospective study design involving 86 fetuses
• Provides specific diagnostic yield percentages for different indications, such as 42% for vermian hypoplasia
• Licensed under CC-BY-4.0 for open sharing and reuse

Limitations

• Row count and column-level documentation are unknown, which may limit suitability assessment
• The dataset is very small at 48.3 KB, indicating limited scope
• Data is provided as a DOCX document, which may require extraction for computational analysis

Provenance

Source

figshare

Collection Method

Multicenter, comparative, prospective study assessing high-throughput sequencing performance

Freshness

Last updated 2026-05-10 22:03:01