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. 2013 Dec 4;22(8):1012–1018. doi: 10.1038/ejhg.2013.277

Table 3. Validity of PCR-PGD analysis compared with embryo reanalysis (n=940 embryos, including aberrant).

  No. of subjects Validity
  TP FN TN FP Se (95% CI) Sp (95% CI) Accuracy (95% CI)
Overall 652 5 229 54 99.2% (98.2–99.8%) 80.9% (75.8–85.3%) 93.7% (91.9–95.2%)
               
By centre
 E 42 0 15 1 100% (91.6–100%) 93.8% (69.8–99.8%) 98.3% (90.8–99.9%)
 C 46 0 0 3 100% (92.3–100%) 93.9% (83.1–98.7%)
 A 355 5 98 29 98.6% (96.8–99.5%) 77.2% (68.9–84.1%)a 93.0% (90.4–95.1%)
 D 21 0 22 8 100% (83.9–100%) 73.3% (54.1–87.7%)a 84.3% (71.4–93.0%)a
 G 154 0 76 5 100% (97.6–100%) 93.8% (86.1–98.0%) 97.9% (95.1–99.3%)
 B 34 0 18 8 100% (89.7–100%) 69.2% (48.2–85.7%)a 86.7% (75.4–94.0%)a
               
No. of cells used in PGD
 One cell 337 3 152 42 99.1% (97.4–99.8%) 78.3% (71.9–83.9%) 91.6% (88.8–93.8%)b
 Two cells 300 2 76 11 99.3% (97.6–99.9%) 87.4% (78.5–93.5%) 96.7% (94.3–98.2%)b
 >2 cells (3 or 4) 15 0 1 1 100% (78.2–100%) 50% (1.2–98.7%) 94.1% (71.3–99.9%)
               
Disease category
 AR 123 1 96 26 99.2% (95.6–99.9%) 78.7% (70.4–85.6%) 89.0% (84.4–92.6%)c
 AD 442 3 104 25 99.3% (98.0–99.9%) 80.6% (72.7–87.0%) 95.1% (93.0–96.7%)c
 XL-R 43 1 20 2 97.8% (88.0–99.9%) 90.9% (70.8–98.9%) 95.4% (87.3–99.0%)
 XL-D 44 0 9 1 100% (91.9–100%) 90.0% (55.5–99.7%) 98.1% (90.1–99.9%)
               
PCR-PGD protocol
 Singleplex 192 4 45 14 97.9% (94.8–99.4%)b 76.3% (63.4–86.4%) 92.9% (89.1–95.8%)
 Multiplex 460 1 184 40 99.8% (98.8–99.9%) 82.1% (76.5–86.9%) 94.0% (92.0–95.7%)
               
Combined biopsy–PGD-PCR strategies
 Singleplex one cell 67 3 21 8 95.7% (87.9–99.1%)c 72.4% (52.8–87.3%) 88.9% (81.0–94.3%)c
 Singleplex two cells 118 1 24 5 99.2% (95.4–99.9%) 82.8% (64.2–94.2%) 95.9% (91.4–98.5%)
 Multiplex one cell 270 0 131 34 100% (98.6–100%)c 79.4% (72.4–85.3%) 92.1% (89.2–94.5%)
 Multiplex two cells 182 1 52 6 99.5% (97.0–100%) 89.6% (78.8–96.1%) 97.1% (94.1–98.8%)c
               
Embryo morphology
 Class 1 178 0 44 15 100% (97.9–100%)b 74.6% (61.6–85.0%) 93.7% (89.8–96.4%)
 Class 4 37 2 21 1 94.9% (82.7–99.4%) 95.5% (77.1–99.9%) 95.0% (86.3–98.9%)
a

P<0.05 for comparison with the centre G after Bonferroni correction.

b

P<0.05.

c

P<0.05 after Bonferroni correction.