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

Matthew Cauldwell, Philip J Steer, Dawn Adamson, Claire Alexander, Lowri Allen, Catriona Bhagra, Aidan Bolger, Samantha Bonner, Matilde Calanchini, Aisling Carroll, Ruth Casey, Stephanie Curtis, Catherine Head, Kate English, Lucy Hudsmith, Rachael James, Eleanor Joy, Niamh Keating, Lucy MacKiliop, Fionnuala McAuliffeR Katie Morris, Aarthi Mohan, Katherine Von Klemperer, Mandeep Kaler, D Aled Rees, Asha Shetty, Farah Siddiqui, Lydia Simpson, Linden Stocker, Paul Timmons, Sarah Vause, Helen E Turner

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
JournalBJOG: An International Journal of Obstetrics & Gynaecology
Early online date20 Nov 2021
DOIs
Publication statusE-pub ahead of print - 20 Nov 2021

Keywords

  • aortic dissection
  • pregnancy
  • Turner syndrome

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