Table A6:
GRADE Evidence Profile for Noninvasive Prenatal Testing
| Number of Studies (Design) | Risk of Bias | Inconsistency | Indirectness | Imprecision | Publication Bias | Upgrade Considerations | Quality |
|---|---|---|---|---|---|---|---|
| NIPT Accuracy | |||||||
| Trisomy 21, sensitivity (8 test accuracy studiesa) | Serious limitations (−1)b | No serious limitations | No serious limitations | No serious limitations | Undetected | None | ⊕⊕ ⊕ Moderate |
| Trisomy 21, specificity (8 test accuracy studiesa) | Serious limitations (−1)b | No serious limitations | No serious limitations | No serious limitations | Undetected | None | ⊕⊕ ⊕ Moderate |
| Trisomy 18, sensitivity (7 test accuracy studiesa) | Serious limitations (−1)b | No serious limitations | No serious limitations | Serious limitations (−1)c | Undetected | None | ⊕⊕ Low |
| Trisomy 18, specificity (7 test accuracy studiesa) | Serious limitations (−1)b | No serious limitations | No serious limitations | No serious limitations | Undetected | None | ⊕⊕ ⊕ Moderate |
| Trisomy 13, sensitivity (7 test accuracy studiesa) | Serious limitations (−1)b | No serious limitations | No serious limitations | Serious limitations (−1)c | Undetected | None | ⊕⊕ Low |
| Trisomy 13, specificity (7 test accuracy studiesa) | Serious limitations (−1)b | No serious limitations | No serious limitations | No serious limitations | Undetected | None | ⊕⊕ ⊕ Moderate |
| Test failure rate (7 observational studies) | Serious limitations (−1)b | Serious limitations (−1)d | No serious limitations | No serious limitations | Undetected | None | ⊕ Very Low |
| NIPT Clinical Utility | |||||||
| Reduction in diagnostic testing (2 observational studies) | Serious limitations (−1)b | No serious limitations | No serious limitations | No serious limitations | Undetected | +2 for large magnitude of effect | ⊕⊕ ⊕ Moderate |
| Test turnaround time (3 observational studies) | Serious limitations (−1)b | No serious limitations | No serious limitations | No serious limitations | Undetected | None | ⊕ Very Low |
| Understanding of health care providers (7 observational studies) | Serious limitations (−1)e | Very serious limitations (−2)f | No serious limitations | Very serious limitations (−2)f | Undetected | None | ⊕ Very Low |
| NIPT Personal Utility | |||||||
| Maternal education (1 observational study) | Serious limitations (−1)b | No serious limitations | No serious limitations | Very serious limitations (−2)g | Undetected | None | ⊕ Very Low |
| Maternal satisfaction (1 observational study) | Serious limitations (−1)b | No serious limitations | No serious limitations | Very serious limitations (−2)g | Undetected | None | ⊕ Very Low |
Abbreviation: Grading of Recommendations, Assessment, Development and Evaluation.
Note: Publication bias cannot be adequately assessed for test accuracy, unless there are known studies that cannot be accessed.
Test accuracy studies start at high GRADE.
Risk of bias concerns regarding patient selection and flow and timing among studies. Not all patients were included in analyses, some of which were likely at higher risk of chromosomal anomalies.
Wide confidence intervals because of low prevalence of conditions and very low number of false negatives that highly influenced test sensitivity.
Differences in NIPT testing platform and algorithms may have affected the cutoff for low fetal fraction, affecting the failure rate.
Not a validated method of assessing satisfaction or education.
Low response rate among some studies. Convenience sampling of health care providers. Response bias.
Differences in geographical location, education, and regional practice patterns impact providers’ education. Different survey design and questions (non-validated) used to assess provider understanding. Broad range of understanding is covered within studies.