Prenatal Trio-Exome Sequencing Diagnostic Yield for Fetal Anomalies

28% of 86 fetuses with selected prenatal indications received a definite etiological diagnosis from trio-exome sequencing. The diagnostic yield varied by indication, reaching 42% for vermian hypoplasia and 30% for polymalformative syndromes. Manon Chretien published this multicenter, prospective study on figshare in May 2026.

Use Cases

• Benchmarking diagnostic yields of exome sequencing versus targeted gene panels based on the comparative study design.
• Investigating genotype-phenotype correlations for prenatal ciliopathies based on the reported missense variants.
• Assessing the impact of postzygotic mosaic variants in prenatal diagnosis based on the RHOA case.
• Informing clinical guidelines for prenatal exome sequencing based on the analysis of diagnostic yield by indication.

Strengths

• Defined diagnostic yield of 28% (24/86) from a cohort of 86 fetuses.
• Results are broken down by specific prenatal indications, such as vermian hypoplasia (5/12).
• Includes a comparative analysis of two sequencing methods (targeted panel vs. exome).

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• The 27.0 KB file size suggests a very limited scope, likely containing summary statistics rather than raw genetic data.

Provenance

Source

figshare

Collection Method

Multicenter, comparative, prospective clinical study.

Freshness

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