TABLE 6.
Individual and service-related factors according to definite final diagnosis among women who proceeded with prenatal ES.
| Diagnosis made (n = 85) | No diagnoses made (n = 156) | Total (N = 241) | p-value | |
|---|---|---|---|---|
| n (%) | n (%) | n (%) | ||
| Individual-level | ||||
| Maternal age, years | ||||
| <25 | 13 (15.3) | 21 (13.5) | 34 (14.1) | 0.52 |
| 25-<30 | 23 (27.1) | 34 (21.8) | 57 (23.6) | |
| 30-<35 | 25 (29.4) | 58 (37.2) | 83 (34.4) | |
| ≥35 | 24 (28.2) | 43 (27.6) | 67 (27.8) | |
| Maternal Ethnicity | ||||
| White | 52 (66.7) | 116 (81.7) | 168 (76.4) | 0.01 |
| Black, Asian, and Other Minority | 26 (33.3) | 26 (18.3) | 52 (23.6) | |
| Missing | 7 | 14 | 21 | |
| Index of Multiple Deprivation | ||||
| Quintile 1 (Most deprived) | 23 (28.4) | 34 (22.5) | 57 (24.6) | 0.25 |
| Quintile 2 | 21 (25.9) | 32 (21.2) | 53 (22.8) | |
| Quintile 3 | 16 (19.8) | 29 (19.2) | 45 (19.4) | |
| Quintile 4 | 9 (11.1) | 35 (23.2) | 44 (19.0) | |
| Quintile 5 (Least deprived) | 12 (14.8) | 21 (13.9) | 33 (14.2) | |
| Missing | 4 | 5 | 9 | |
| Complex social factor indicator | ||||
| No | 65 (82.3) | 136 (92.5) | 201 (88.9) | 0.02 |
| Yes | 14 (17.7) | 11 (7.5) | 25 (11.1) | |
| Missing | 6 | 9 | 15 | |
| Gestational age at outcome, weeks, median (IQR) | 32.9 (27.1–37.8) | 37.0 (33.8–38.7) | 36.6 (30.9–38.4) | 0.001 |
| Missing | 15 | 10 | 25 | |
| Service-level | ||||
| Sources of Referral | ||||
| Genetics | 46 (57.5) | 80 (54.4) | 126 (55.5) | 0.82 |
| Fetal medicine/Genetics | 30 (37.5) | 61 (41.5) | 91 (40.1) | |
| Fetal medicine | 4 (5.0) | 6 (4.1) | 10 (4.4) | |
| Missing | 5 | 9 | 14 | |
| Turnaround time, days, median (IQR) | 16 (14–21) | 14 (12.8–17) | 15 (13–20) | <0.001 |
| Gestational age at final report, weeks, median (IQR) | 26.2 (23.9–29.5) | 26.6 (24.3–31.0) | 26.4 (24.1–30.3) | 0.46 |
| Missing | 1 | 0 | 1 | |
Note: Diagnostic yield: Yes: Pathogenic variant reported, No: VUS, or no pathogenic.
variant reported.
p-values from chi-square test except for continuous outcomes for which the Kruskal Wallis test was used.
Abbreviation: IQR: Inter-quartile range, ES: exome sequencing.