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 McAuliffe; R 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

doi:10.1111/1471-0528.17025

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

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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 language	English
Journal	BJOG: An International Journal of Obstetrics & Gynaecology
Early online date	20 Nov 2021
DOIs	https://doi.org/10.1111/1471-0528.17025
Publication status	E-pub ahead of print - 20 Nov 2021

Bibliographical note

Keywords

aortic dissection
pregnancy
Turner syndrome

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10.1111/1471-0528.17025Licence: None: All rights reserved

CauldwellM2021Pregnancies
This is the peer reviewed version of the following article: Cauldwell, M., et al. (2021), Pregnancies in women with Turner Syndrome: A retrospective multicentre UK study. BJOG: An International Journal of Obstetrics & Gynaecology., which has been published in final form at: https://doi.org/10.1111/1471-0528.17025. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited
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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., ... Turner, H. E. (2021). Pregnancies in women with Turner Syndrome: a retrospective multicentre UK study. BJOG: An International Journal of Obstetrics & Gynaecology. Advance online publication. https://doi.org/10.1111/1471-0528.17025

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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.",

keywords = "aortic dissection, pregnancy, Turner syndrome",

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

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Cauldwell, M, Steer, PJ, 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, RK, Mohan, A, Von Klemperer, K, Kaler, M, Rees, DA, Shetty, A, Siddiqui, F, Simpson, L, Stocker, L, Timmons, P, Vause, S & Turner, HE 2021, 'Pregnancies in women with Turner Syndrome: a retrospective multicentre UK study', BJOG: An International Journal of Obstetrics & Gynaecology. https://doi.org/10.1111/1471-0528.17025

TY - JOUR

T1 - Pregnancies in women with Turner Syndrome

T2 - a retrospective multicentre UK study

AU - Cauldwell, Matthew

AU - Steer, Philip J

AU - Adamson, Dawn

AU - Alexander, Claire

AU - Allen, Lowri

AU - Bhagra, Catriona

AU - Bolger, Aidan

AU - Bonner, Samantha

AU - Calanchini, Matilde

AU - Carroll, Aisling

AU - Casey, Ruth

AU - Curtis, Stephanie

AU - Head, Catherine

AU - English, Kate

AU - Hudsmith, Lucy

AU - James, Rachael

AU - Joy, Eleanor

AU - Keating, Niamh

AU - MacKiliop, Lucy

AU - McAuliffe, Fionnuala

AU - Morris, R Katie

AU - Mohan, Aarthi

AU - Von Klemperer, Katherine

AU - Kaler, Mandeep

AU - Rees, D Aled

AU - Shetty, Asha

AU - Siddiqui, Farah

AU - Simpson, Lydia

AU - Stocker, Linden

AU - Timmons, Paul

AU - Vause, Sarah

AU - Turner, Helen E

PY - 2021/11/20

Y1 - 2021/11/20

N2 - 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.

AB - 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.

KW - aortic dissection

KW - pregnancy

KW - Turner syndrome

U2 - 10.1111/1471-0528.17025

DO - 10.1111/1471-0528.17025

M3 - Article

C2 - 34800331

SN - 1470-0328

JO - BJOG: An International Journal of Obstetrics & Gynaecology

JF - BJOG: An International Journal of Obstetrics & Gynaecology

ER -

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

Abstract

Bibliographical note

Keywords

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