Diaa E E Rizk1, Purnima Deb. 1. Department of Obstetrics and Gynecology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. rizk.diaa@uaeu.ac.ae
Abstract
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 (50(th) percentile) and measuring 48 cm (50(th) 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.
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 (50(th) percentile) and measuring 48 cm (50(th) 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.
Authors: Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober Journal: Genet Med Date: 2008-07 Impact factor: 8.822