Table 2.
Patient characteristics
| BRCA group, n = 43 | Control group, n = 174 | |
|---|---|---|
| Female age (mean, SD) | 31.4 ± 3.7 | 32.1 ± 4.1 |
| Female BMI (mean, SD) | 23.8 ± 3.0 | 23.9 ± 3.5 |
| AD disorders (n, %) | 43 (100.0) | 119 (68.4) |
| Female carriers | 42 | 59a |
| Male carriers | n/a | 57 |
| Both partners | 1 | 3 |
| BRCA1 (n, %) | 20 (46.5) | n/a |
| BRCA2 (n, %) | 22 (51.2) | n/a |
| BRCA2 female + retinoblastoma male (n, %) | 1 (2.3) | n/a |
| Huntington’s disease | n/a | 25b |
| Neurofibromatosis type 1 | n/a | 12c |
| Myotonic dystrophy type 1d | n/a | 10 |
| Familial adenomatous polyposis | n/a | 10 |
| Spinocerebellar ataxia type 3 | n/a | 8 |
| Marfan syndrome | n/a | 7 |
| Other | n/a | 47e |
| AR disorders (n, %) | n/a | 55 (31.6) |
| Cystic fibrosis | n/a | 16 |
| Spinal muscular atrophy | n/a | 13e |
| Other | n/a | 26 |
SD standard deviation, BMI body mass index, AD autosomal dominant, AR autosomal recessive, n/a not applicable
aOne woman had both Peutz-Jeghers syndrome and porencephalia
bOf which five couples opted for exclusion PGD
cOf which two couples had two indications for PGD
dOnly males with myotonic dystrophy type 1 were included, since myotonic dystrophy type 1 is potentially associated with a reduced ovarian reserve
eOf which one couple had two indications for PGD