Table 4 Patient management and counselling following a positive cfDNA screen result (n = 188)
Question: | Ob/Gyn (n = 114) % [95% CI] | MFM (n = 29) % [95% CI] | GP (n = 31) % [95%CI] | MW (n = 14) % [95% CI] | p-value |
|---|---|---|---|---|---|
When cfDNA shows a high-risk result for trisomy 13, 18, or 21…. | |||||
- correctly identified that patients should be offered: | |||||
Invasive diagnostic testing | 91.2% [84.4–95.2] | 96.6% [78.4–99.6] | 77.4% [59.2–89.0] | 78.6% [49.1–93.3] | p = 0.047 |
Genetic counselling | 68.4% [59.2–76.4] | 62.1% [43.1–77.9] | 64.5% [46.1–79.4] | 78.6% [49.1–93.3] | p = 0.719 |
- correctly identified that patients should NOT be offered: | |||||
Immediate treatment for the baby | 99.1% [93.9–99.9] | 100.0% | 100.0% | 100.0% [3.4–44.3] | p = 0.884 |
A termination of pregnancy | 95.6% [89.8–98.2] | 100.0% | 80.6% [62.6–91.2] | 92.3% [60.8–99.1] | p = 0.009 |
Stem cell therapy | 100.0% | 100.0% | 100.0% | 100.0% | p = 1.0 |
- stated insufficient/no evidence | 0.0% | 0.0% | 0.0% | 0.0% | p = 1.0 |
- reported not knowing | 1.8% [0.4–6.8] | 0.0% | 3.2% [0.4–20.4] | 0.0% | p = 0.743 |
Correctly identified that the SOGC currently recommends that cfDNA should be offered in lieu of invasive testing for women at increased risk of trisomy. | 65.0% [55.6–73.1] | 86.2% [67.9–94.9] | 61.3% [43.0–76.8] | 71.4% [42.7–89.4] | p = 0.172 |
Correctly identified that cfDNA should be offered to: | |||||
Women who had another positive prenatal screening test for trisomy. | 64.0% [54.7–72.4] | 72.4% [53.3–85.8] | 48.4% [31.3–65.8] | 50.0% [25.1–74.9] | p = 0.186 |
Women with a previous pregnancy with fetal aneuploidy. | 57.9% [48.6–66.7] | 69.0% [49.8–83.3] | 38.7% [23.2–57.0] | 57.1% [30.6–80.1] | p = 0.116 |
Correctly identified that cfDNA should NOT be offered to: | |||||
All pregnant women | 54.4% [45.1–63.4] | 55.2% [36.8–72.3] | 58.1% [40.0–74.2] | 50.0% [25.1–74.9] | p = 0.965 |
Reflexively to women over 35 yrs | 64.9% [55.6–73.1] | 65.5% [46.4–80.6] | 51.6% [34.2–68.7] | 50.0% [25.1–74.9] | p = 0.420 |
Only to women who can afford it | 77.2% [68.5–84.0] | 82.8% [64.1–92.8] | 74.2% [55.8–86.8] | 92.9% [60.8–99.1] | p = 0.477 |
Only to women who would consider termination of pregnancy | 75.4% [66.6–82.5] | 96.6% [78.4–99.5] | 71.0% [52.5–84.4] | 78.6% [49.1–93.3] | p = 0.066 |
Reported not knowing who cfDNA should be offered to. | 0.9% [0.1–6.1] | 3.4% [0.5–21.6] | 16.1% [6.7–33.9] | 0.0% | p = 0.001 |