Concordance Study of Genome-Wide cfDNA Screening for Fetal Copy-Number Variants

Global Expanded NIPT Consortium data contains 276 cases evaluating concordance between genome-wide cell-free DNA screening and diagnostic tests for large fetal copy-number variants. The dataset includes 209 cases with diagnostic results, showing 23.4% concordance. Cases were contributed from eight sites across seven countries, with a mean gestational age of 13 weeks at blood draw.

Use Cases

• Analyze concordance rates between cfDNA screening and diagnostic test results across 276 cases to assess test performance.
• Investigate the relationship between CNV size (mean 33.4 Mb) and diagnostic outcome among 124 deletions and 152 duplications.
• Examine the role of maternal biological explanations in the 157 discordant cases to understand sources of false positives.
• Study fetal fraction levels (mean 8.8%) among the 49 concordant cases to identify factors influencing screening accuracy.
• Correlate pregnancy outcome information from 116 cases with CNV type and size to explore phenotypic associations.

Strengths

• Dataset contains 276 clinically validated cases with detailed screening and diagnostic comparisons.
• Provides specific metrics like a 23.4% overall concordance rate and mean CNV size of 33.4 Mb.
• Multi-site origin from eight consortium sites in seven countries enhances geographic diversity.
• Includes ancillary data like pregnancy outcomes for 116 cases and parental testing for 38 cases.

Limitations

• Diagnostic test results are only available for 209 of the 276 cases (75.7%), limiting complete analysis.
• Pregnancy outcome information is limited, available for only 116 cases (42.0%).
• The 28.0 KB file size suggests a summary-level dataset, not containing raw genetic sequences or individual-level detail.

Provenance

Source

Global Expanded NIPT Consortium, contributed by Erica Soster via figshare.

Collection Method

Retrospective cohort study of cases submitted by consortium members.

Time Range

null

Freshness

Last updated March 24, 2026.

Geography

Eight sites in seven countries, with 83% of cases from European sites.