TABLE 2.
Perinatal course and pregnancy outcomes of patients by PKLR mutation typea
| Characteristics | Missense/Missense N = 113 patients n |
Missense/Non-Missense N = 52 patients n |
Non-Missense/Non-Missense N = 30 patient n |
P valueb |
|---|---|---|---|---|
| Perinatal Complications/Treatment | 28/100 (28%) | 15 /48 (31%) | 11/28 (39%) | .26 |
| In utero transfusions | 12/26 (46%) | 8/15 (53%) | 4/10 (40%) | 1.0 |
| Hydrops | 3/26 (12%) | 5/14 (36%) | 1/11 (9%) | 1.0 |
| Exchange transfusion | 34/80 (42%) | 17/40 (43%) | 9/21 (43%) | 1.0 |
| Phototherapy | 69/78 (88%) | 29/37 (78%) | 17/20 (85%) | .22 |
| Pregnancy Outcomes/Management (data presented per pregnancy of affected woman with PKD)a | n = 29 pregnanciesa from 16 pregnant women | n = 13 pregnanciesa from 6 pregnant women | n = 7 pregnanciesa from 3 pregnant women | |
| Normal birth - full-term | 20/29 (69%) | 8/13 (62%) | 5/7 (71%) | 1.0 |
| Pre-maturity | 3/29 (10%) | 0/13 (0%) | 2/7 (29%) | .24 |
| Transfusions during pregnancy | 9/21 (43%) | 3/6 (50%) | 5/5 (100%) | .043 |
a
Patients with known and available clinical data. For each proportion calculated, the denominator is the number of patients or pregnancies with known data for that characteristic.
b
Comparing Missense/Missense to non-Missense/non-Missense group using Fisher exact test.