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Table 4 Clinical impacts of ES results in the prospective cohort

From: Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

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

 

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)