Fertility issues and pregnancy outcomes in Turner syndrome.
Calanchini M., Aye CYL., Orchard E., Baker K., Child T., Fabbri A., Mackillop L., Turner HE.
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.