Endocrine Abstracts

Background: Limited contemporary data exist with which to counsel women with Turner Syndrome (TS) with regards to risks associated with pregnancy. We conducted a multicentre UK retrospective cohort study to determine the characteristics and outcomes of pregnancy in women with TS.

Method: Retrospective cohort 20-year (2000-2020) study including 16 UK tertiary referral maternity units. Data were collated from case notes review, and maternal outcomes, obstetric and neonatal complications recorded. We included all livebirth, miscarriages, and terminations of pregnancy.

Results: 81 women with TS and pregnancy were identified. Overall, 54/127 (42.5%) pregnancies were by egg donation (OD); and 22/31 (71%) in women with 45, X karyotype. 89/103, 86.4% pregnancies were planned. Only 9/31 (29%) of pregnancies in the 45, X group were spontaneous, compared with 53/66 (80.3%) in the mosaic group 45, X/46, XX (P < 0.0001). Women with mosaic TS (45, X/46, XX) were younger at their first pregnancy by 5.5-8.5 years compared to other groups (P < 0.001), and significantly more likely to have a spontaneous menarche (75.8% vs 50% or less, P = 0 .008). There were 17 miscarriages, three terminations of pregnancy, two intrauterine deaths and 107 live births. There were two cases of maternal aortic dissection (2%), both 45, X, bicuspid aortic valve and OD pregnancies; one of whom died. Another woman required aortic root replacement within six months of delivery. 10/104 (7.7%) births were preterm and 22/96 (22.9%) were small for gestational age (< 10^th centile). The elective caesarean section rate was 72/107 (67.3%). Only 69/127 (54%) women where data were available had undergone cardiovascular imaging within 24 months of conceiving

Conclusions: Pregnancy in TS is associated with major maternal cardiovascular risks. Assisted pregnancy is commonplace. Women with TS should undergo detailed and thorough cardiovascular assessment and counselling prior to assisted or spontaneous pregnancy and be managed by a specialist team.