Trio-Exome Sequencing for Prenatal Diagnosis in 86 Fetuses

Manon Chretien's study evaluates trio-exome sequencing for prenatal diagnosis in selected indications. The dataset contains results from a multicenter, prospective study of 86 fetuses, where a definite etiological diagnosis was made in 28% of cases. The diagnostic yield varied by indication, with the highest rates for vermian hypoplasia and polymalformative syndromes.

Use Cases

• Benchmarking diagnostic yields of exome sequencing versus targeted gene panels based on the comparative study design
• Analyzing the distribution of genetic variants (e.g., missense, mosaic) across prenatal indications mentioned in the results
• Investigating genotype-phenotype correlations for specific indications like vermian hypoplasia or polymalformative syndromes
• Assessing the clinical impact of genetic diagnoses on pregnancy management timelines as described in the conclusion

Strengths

• Results are based on a multicenter, prospective study design
• Provides specific diagnostic yield percentages (28% overall, 42% for vermian hypoplasia)
• Breaks down variant types and affected gene groups (e.g., 18% missense variants in ciliopathy genes)

Limitations

• Row count and column-level documentation are unknown, limiting suitability assessment
• The dataset is very small at 30.1 KB, indicating limited scope
• Data may reflect the specific selection criteria and biases inherent to the study's participating centers

Provenance

Source

Manon Chretien via figshare

Collection Method

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

Freshness

Last updated 2026-05-10 22:03:02; freshness should be verified.