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. 2017 Aug 22;34(11):1475–1482. doi: 10.1007/s10815-017-1014-3

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