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Exome diagnostic cutoffs and the resulting sensitivity and specificity
| Specificity Cutoffs | ||||||
|---|---|---|---|---|---|---|
| Maternal Homozygous | Maternal Heterozygous | |||||
| Trimester | 95% | 99% | 85% | 90% | 95% | |
| Sensitivity | 1 | 98% | 96% | 25% | 16% | 8% |
| 2 | 99.8% | 99.8% | 89% | 85% | 71% | |
| 3 | 99.7% | 99.6% | 96% | 93% | 87% | |
