TABLE 5.
Service outcomes (definite final diagnosis and sources of referral) among women who proceeded with prenatal ES in each GLH.
| GLH 1 (n = 36) | GLH 2 (n = 22) | GLH 3 (n = 48) | GLH 4 (n = 11) | GLH 5 n = 63) | GLH 6 (n = 28) | GLH 7 (n = 33) | Total (N = 241) | p-value | |
|---|---|---|---|---|---|---|---|---|---|
| n (%) | n (%) | n (%) | n (%) | n (%) | n (%) | n (%) | n (%) | ||
| Definite diagnosis (Diagnostic yield) | |||||||||
| No | 21 (58.3) | 15 (68.2) | 30 (62.5) | 6 (54.5) | 43 (68.3) | 20 (71.4) | 21 (63.6) | 156 (64.7) | 0.89 |
| Yes | 15 (41.7) | 7 (31.8) | 18 (37.5) | 5 (45.5) | 20 (31.7) | 8 (28.6) | 12 (36.4) | 85 (35.3) | |
| Sources of Referral | |||||||||
| Genetics | 1 (2.9) | 11 (50.0) | 48 (100.0) | 11 (100.0) | 26 (52.0) | 20 (71.4) | 9 (27.3) | 126 (55.5) | NC |
| Fetal medicine/Genetics | 25 (71.4) | 11 (50.0) | 0 (0.0) | 0 (0.0) | 24 (48.0) | 7 (25.0) | 24 (72.7) | 91 (40.1) | |
| Fetal medicine | 9 (25.7) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 1 (3.6) | 0 (0.0) | 10 (4.4) | |
| Missing | 1 | 0 | 0 | 0 | 13 | 0 | 0 | 14 | |
Note: Diagnostic yield: Yes: Pathogenic variant reported, No: VUS, or no pathogenic variant reported.
p-value from chi-square test.
Abbreviations: ES: exome sequencing, GLH: genomic laboratory hub, NC: Not computed (because of multiple zeroes for fetal medicine).