Clinical impacts | No. of cases | Percentage (%) |
---|---|---|
Diagnostic cases | 131 | 12.4 (131/1053) |
1. Termination | 105 | 80.2 (105/131) |
 (1) Decision making on termination due to positive ES result | 78 | 74.3 (78/105) |
 (2) Termination due to fetal anomaly prior to ES result | 27 | 25.7 (27/105) |
2. Continuation of pregnancy and implication for clinical management | 20 | 15.3 (20/131) |
 (1) Decision making due to non-neurodevelopmental phenotype | 7 | 35.0 (7/20) |
 (2) Decision making due to inherited from either parent | 4 | 20.0 (4/20) |
 (3) Decision making due to non-neurodevelopmental phenotype and inherited from the parent | 8 | 40.0 (8/20) |
 (4) Initial negative result becoming positive due to new disease gene identified | 1 | 5.0 (1/20) |
3. Fetal birth before ES report returned | 3 (1 with neonatal demise) | 2.3 (3/131) |
4. Lost to follow-up | 1 | 0.8 (1/131) |
5. In pregnancy | 2 | 1.5 (2/131) |
VUS cases | 81 | 7.7 (81/1053) |
1. Termination | 41 | 50.6 (41/81) |
 (1) Termination due to fetal anomaly prior to ES result | 28 | 68.3 (28/41) |
 (2) Termination due to VUS results and fetal anomaly | 12 | 29.3 (12/41) |
 (3) Termination due to VUS results predominantly | 1 | 2.4 (1/41) |
2. Continuation of pregnancy | 33 | 40.7 (33/81) |
 (1) Decision making due to VUS result and fetal anomaly | 22 (1 with neonatal demise) | 66.7 (22/33) |
 (2) Decision making due to VUS inherited from either parent | 10 | 30.3 (10/33) |
 (3) Decision making due to precious IVF fetus | 1 | 3.0 (1/33) |
3. Lost to follow-up | 2 | 2.5 (2/81) |
4. In pregnancy | 5 | 6.2 (5/81) |
Cases of IFs with childhood-onset disease | 5 | 0.5 (5/1053) |
1. Termination due to fetal anomaly prior to ES result | 1 | 20.0 (1/5) |
2. Decision making on continuation of pregnancy due to non-neurodevelopmental phenotype of positive and IF result and implication for clinical management | 1 | 20.0 (1/5) |
3. Decision making on termination due to positive and IF results | 1 | 20.0 (1/5) |
4. Decision making on continuation of pregnancy due to non-neurodevelopmental phenotype of IF result and implication for clinical management | 1 | 20.0 (1/5) |
5. In pregnancy | 1 | 20.0 (1/5) |
Cases of SFs with childhood-onset disease | 1 | 0.1 (1/1053) |
1. Decision making on continuation of pregnancy and implication for clinical management | 1 | Â |
Negative cases | 834 | 79.2 (834/1053) |
1. Termination due to fetal anomaly prior to ES result | 205 | 24.6 (205/834) |
2. Decision making on continuation of pregnancy due to negative result and fetal anomaly severity | 502 (7 with neonatal demise and 4 with fetal demise) | 60.2 (502/834) |
3. Fetal birth before ES report returned | 10 | 1.2 (10/834) |
4. Lost to follow-up | 64 | 7.7 (64/834) |
5. In pregnancy | 53 | 6.4 (53/834) |