Table 1.
Demographic/Clinical Variables | Adults with 22q11.2DS and History of Pregnancy (n = 63) | Adults with 22q11.2DS and Diagnosis as a Transmitting Parent | Chi-Square/Fisher’s/Wilcoxon Two-Sample Test |
||
---|---|---|---|---|---|
Yes (n = 35) | No (n = 28) | ||||
n (%) | χ2 | p-Value | |||
Male sex | 15 (23.8) | 10 (28.6) | 5 (17.9) | 0.98 | 0.3211 |
Major congenital heart disease | 15 (23.8) | 1 (2.9) | 14 (50.0) | 19.06 | <0.0001 |
Psychotic illness | 11 (17.5) | 4 (11.4) | 7 (25.0) | - | 0.1935 |
Mild intellectual disability | 18 (28.6) | 8 (22.9) | 10 (35.7) | 1.26 | 0.2617 |
Median (Range) | Z | ||||
Current age | 42.4 (24.7–76.3) | 50.0 (28.9–69.5) | 37.9 (24.7–76.3) | 3.54 | 0.0002 |
Age at first pregnancy | 26.2 (17.0–38.0) | 26.0 (17.0–38.0) | 26.3 (19.7–31.0) | 1.20 | 0.1157 |
Age at molecular diagnosis 1 | 23.6 (0.1–52.5) | 32.3 (20.7–52.5) | 16.3 (0.1–39.6) | 4.83 | <0.0001 |
1 Age at molecular diagnosis is provided only for the 44 individuals with pregnancies that occurred in the molecular era (n = 21 in the diagnosis as a transmitting parent subgroup, and n = 23 in the not diagnosed as a transmitting parent subgroup), involving a total of 96 pregnancies. For the remaining 19 individuals, the median age at molecular diagnosis was 43.0 (range 25.6–72.4) years. Bold font indicates statistically significant findings.