Performance Characteristics
- Entire test performed in-house
Sensitivity ≥ 99% for T13, T18 and T21
Specificity ≥ 99.8% for T13, T18 and T21
Accuracy ≥ 99.3% for T13, T18 and T21
Based on 1933 high risk pregnant women samples (212 aneuploid pregnancies confirmed by caryotype or equivalent)
- Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study. - PubMed ID:
31231136
Women who are considering undergoing maternal plasma cell-free DNA (cfDNA) screening should be informed that:
•
It is a highly effective screening test for the common fetal trisomies (21, 18, 13), performed after 10 weeks’ gestation (II-1A).
•
There is a possibility of a failed test (no result available), false negative or positive fetal result, and an unexpected fetal or maternal result (II-1A).
•
All positive cfDNA screening results should be confirmed with invasive fetal diagnostic testing prior to any irrevocable decision (II-1B).
•
Management decisions, including termination of pregnancy, require diagnostic testing and should not be based on maternal plasma cfDNA results alone because it is not a diagnostic test (II-2B).
•
If a fetal structural abnormality is identified in a woman regardless of previous screening test results, the woman should undergo genetic counselling and be offered invasive diagnostic testing with rapid aneuploidy detection and reflex to microarray analysis if rapid aneuploidy detection is normal or inconclusive (II-2B).
•
Although cfDNA screening for aneuploidy in twin pregnancy is available, there is less validation data than for a singleton pregnancy and it should be undertaken with caution (II-2C).
•
Routine cfDNA screening for fetal microdeletions is not currently recommended (II-2B).
Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA
- Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study. - PubMed ID:
31231136
Proficiency Testing (PT)
- Is proficiency testing performed for this test?
HelpWhether the test undergoes periodic internal or external evaluation of the accuracy of test results. Lab-provided.
- No
- PT ProviderHelpProvider used for proficiency testing. Lab-provided.
- N/A
- PT Description
- Regular analysis of plasma samples from pregnant women with return of results to CAP and independent performance analysis.
- FDA Category Designation
- FDA exercises enforcement discretion
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