A Spontaneous and Uneventful Pregnancy in a Turner Mosaic with Previous Recurrent Miscarriages

Background: Conception without ovum donation is very rare in patients with Turner syndrome, occurring mainly in mosaics, and only a third of these natural pregnancies are associated with normal outcome. Case Report: A spontaneous pregnancy is described in a Turner mosaic (45,X/46,XX) with normal puberty and nine previous first-trimester miscarriages who had refused ovum donation. She also declined antenatal genetic diagnosis. Pregnancy remained uneventful with frequent surveillance and psychosocial support. She delivered a live boy weighing 3260 g (50th percentile) and measuring 48 cm (50th percentile) with normal karyotype at term. Conclusion: The diagnosis of mosaic Turner syndrome should be considered in women who have recurrent abortion. Pregnancy may have a good outcome in these patients despite the greater likelihood of recurrent miscarriage.