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Pregnancies in women with Turner Syndrome: A retrospective multicentre UK study

Cauldwell, Matthew, Steer, Philip J., Adamson, Dawn, Alexander, Claire, Allen, Lowri, Bhagra, Catriona, Bolger, Aidan, Bonner, Samantha, Calanchini, Matilde, Carroll, Aisling, Casey, Ruth, Curtis, Stephanie, Head, Catherine, English, Kate, Hudsmith, Lucy, James, Rachael, Joy, Eleanor, Keating, Niamh, MacKiliop, Lucy, McAuliffe, Fionnuala, Morris, R.Katie, Mohan, Aarthi, Von Klemperer, Katherine, Kaler, Mandeep, Rees, D. Aled ORCID:, Shetty, Asha, Siddiqui, Farah, Simpson, Lydia, Stocker, Linden, Timmons, Paul, Vause, Sarah and Turner, Helen E. 2022. Pregnancies in women with Turner Syndrome: A retrospective multicentre UK study. BJOG: An International Journal of Obstetrics and Gynaecology 129 , pp. 796-803. 10.1111/1471-0528.17025

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Objective To determine the characteristics and outcomes of pregnancy in women with Turner Syndrome Design Retrospective 20-year cohort study (2000-2020) Setting 16 tertiary referral maternity units in the UK Population or Sample 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%) of pregnancies in women with karyotype 45,X were spontaneous, compared with 53/66 (80.3%) with mosaic karyotype 45,X/46,XX (p<0.0001). Women with mosaic 45,X/46,XX were younger at first pregnancy by 5.5-8.5 years compared to other TS-karyotype groups (p<0.001), and more likely to have a spontaneous menarche (75.8% vs 50% or less, p=0.008). There were 17 miscarriages, 3 terminations of pregnancy, 2 stillbirths and 105 livebirths. 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 six months of delivery. 10/106 (9.4%) births with gestational age data were preterm and 22/96 (22.9%) with singleton birthweight/gestational age data weighed <10th centile. The caesarean section rate was 72/107 (67.3%). In only 73/127 (57.4%) of pregnancies was there documentation of cardiovascular imaging within 24 months prior to conceiving. Conclusions Pregnancy in women with TS is associated with major maternal cardiovascular risks and deserve thorough cardiovascular assessment and counselling prior to assisted or spontaneous pregnancy managed by a specialist team.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: Wiley
ISSN: 1470-0328
Date of First Compliant Deposit: 30 November 2021
Date of Acceptance: 16 November 2021
Last Modified: 08 Nov 2023 04:57

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