Fertility issues and pregnancy outcomes in Turner syndrome
Dedicated multidisciplinary management of pregnancy in Turner syndrome, preconception, during pregnancy, and in the postpartum period, optimizes the chances of a successful and uncomplicated pregnancy in this high-risk population.
Volume 114, Issue 1, Pages 144–154
Authors:
Matilde Calanchini, M.D., Christina Y.L. Aye, D.Phil., Elizabeth Orchard, F.R.C.P., Kathy Baker, B.Sc.(Hons.), Tim Child, M.D., Andrea Fabbri, Prof., Lucy Mackillop, M.A., Helen E. Turner, M.D.
Abstract:
Objective
To study fertility issues and pregnancy outcomes in Turner syndrome (TS).
Design
Retrospective cohort study.
Setting
Not applicable.
Patient(s)
One hundred fifty-six TS patients, median age 32 years, 23 mosaic 45,X/46,XX, 45,X/47,XXX, 45,X/46,XX/47,XXX.
Intervention(s)
None.
Main Outcome Measure(s)
Fertility choices, spontaneous pregnancy, and oocyte donation (OD) outcomes. Conditions associated with aortic dissection and poor pregnancy outcomes at preconception were considered. Pregnancy-related aortic dimension changes and the long-term impact of pregnancy on TS-related comorbidities were assessed.
Results(s)
In all, 13.5% had spontaneous pregnancies, resulting in a pregnancy with live birth in 18 patients (37 newborns); 16% considered OD, one adopted, and one underwent fertility preservation.
Spontaneous pregnancy predictive factors were a karyotype with a second or third cell line with more than one X and spontaneous menarche. In all, 47.6% had miscarriages, two experienced preeclampsia, and two had gestational diabetes. One daughter was diagnosed with TS in adulthood.
Seven of 14 who attempted OD had a pregnancy with live birth; two of seven had gestational diabetes; 64.3% attempting OD had risk factors associated with poor pregnancy outcomes, including four who had double embryo transfer. Cardiac status at preconception was evaluated in 12 of 25 women who had a pregnancy. The aortic diameters during pregnancy increased. The aortic growth at sinuses was 0.51 ± 0.71 mm/year and at ascending aorta 0.67 ± 0.67 mm/year, reaching a significant difference at sinuses compared with the growth in nulliparous TS. Among women who had a pregnancy, none experienced aortic dissection during and in the years after pregnancy.
Conclusion(s)
This study highlights the importance of a TS-dedicated multidisciplinary management of pregnancy, before and during pregnancy and in the postpartum period.
