| ECS | Expanded carrier screening |
| cffDNA | Cell-free fetal DNA |
| AI | Artificial intelligence |
| CdLS | Cornelia de Lange syndrome |
| FDNA | Facial dysmorphology novel analysis |
| AUROC | Area under the receiver operating characteristic |
| ECS | Expanded carrier screening |
| cffDNA | Cell-free fetal DNA |
| AI | Artificial intelligence |
| CdLS | Cornelia de Lange syndrome |
| FDNA | Facial dysmorphology novel analysis |
| AUROC | Area under the receiver operating characteristic |