Pregnancies in women with Turner syndrome: a retrospective multicentre UK study

Cauldwell, M, Steer, P J, Adamson, D, Alexander, C, Allen, L, Bhagra, C, Bolger, A, Bonner, S, Calanchini, M, Carroll, A, Casey, R, Curtis, S, Head, C, English, K, Hudsmith, L, James, R, Joy, E, Keating, N, MacKiliop, L, McAuliffe, F, Morris, R K, Mohan, A, Von Klemperer, K, Kaler, M, Rees, D A, Shetty, A, Siddiqui, F, Simpson, L, Stocker, L, Timmons, P, Vause, S and Turner, H E (2021) Pregnancies in women with Turner syndrome: a retrospective multicentre UK study. BJOG: An International Journal of Obstetrics & Gynaecology. (doi:10.1111/1471-0528.17025).

Abstract

Objective: to determine the characteristics and outcomes of pregnancy in women with Turner syndrome.

Design: retrospective 20-year cohort study (2000-20).

Setting: sixteen tertiary referral maternity units in the UK.

Population or sample: a total of 81 women with Turner syndrome who became pregnant.

Methods: retrospective chart analysis.

Main outcome measures: mode of conception, pregnancy outcomes.

Results: we obtained data on 127 pregnancies in 81 women with a Turner phenotype. All non-spontaneous pregnancies (54/127; 42.5%) were by egg donation. Only 9/31 (29%) pregnancies in women with karyotype 45,X were spontaneous, compared with 53/66 (80.3%) pregnancies in women with mosaic karyotype 45,X/46,XX (P < 0.0001). Women with mosaic karyotype 45,X/46,XX were younger at first pregnancy by 5.5-8.5 years compared with other Turner syndrome karyotype groups (P < 0.001), and more likely to have a spontaneous menarche (75.8% versus 50% or less, P = 0.008). There were 17 miscarriages, three terminations of pregnancy, two stillbirths and 105 live births. Two women had aortic dissection (2.5%); both were 45,X karyotype with bicuspid aortic valves and ovum donation pregnancies, one died. Another woman had an aortic root replacement within 6 months of delivery. Ten of 106 (9.4%) births with gestational age data were preterm and 22/96 (22.9%) singleton infants with birthweight/gestational age data weighed less than the tenth centile. The caesarean section rate was 72/107 (67.3%). In only 73/127 (57.4%) pregnancies was there documentation of cardiovascular imaging within the 24 months before conceiving.

Conclusions: pregnancy in women with Turner syndrome is associated with major maternal cardiovascular risks; these women deserve thorough cardiovascular assessment and counselling before assisted or spontaneous pregnancy managed by a specialist team.

This record has no associated files available for download.

Contributors

Download statistics