Maternal, pregnancy, and neonatal outcomes for women with Turner syndrome
Abstract
BACKGROUND: Marfan syndrome (MFS) is an autosomal dominant hereditary disorder which affects cardiovascular structure and function. With medical advances, more women with MFS experience pregnancy, which may increase maternal and neonatal risk. Existing research has been limited by small or clinical samples. This study examines the association of MFS and adverse maternal, neonatal, and obstetric outcomes. METHODS: We conducted a cross-sectional study using the discharge abstract database, containing all labor and delivery hospitalizations in Canada (excluding Quebec) from fiscal years 2004-2015 where women delivered a live- or stillbirth. We measured maternal and neonatal morbidity, preterm births (<37 weeks), small-for-gestational-age births, perinatal mortality, and adverse maternal cardiovascular events. For each outcome, we calculated the absolute risk for women with and without MFS and used generalized estimating equations with a logit function to calculate odds. RESULTS: Overall, 2,682,461 women delivered a live or stillborn infant in Canada during the study period, with 135 birth events to women with MFS. Women with MFS did not have significantly higher odds of severe maternal morbidity during their delivery (aOR:1.3; 95%CI: 0.4-4.0). Similarly, their infants did not have significantly higher odds of neonatal morbidity. However, infants born to women with MFS were significantly more likely to be born preterm (aOR:2.6; 95%CI: 1.6-4.3) and to be small-for-gestational-age (aOR:1.8; 95%CI:1.0-3.1). CONCLUSIONS: This population-based study indicates that, although some women with MFS may experience higher odds of maternal and/or neonatal morbidity during labor and delivery, the majority of women with MFS can have healthy births with proper clinical management.
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The odds of preterm birth and small-for-gestational-age of infants born to individuals with TS compared with women in the general population are 3-fold and 5-fold greater, respectively.
“The odds of a preterm birth and small-for-gestational-age of infants born to individuals with TS compared with women in the general population are 3-fold and 5-fold greater, respectively.590”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [590]
Cites
A New and Improved Population-Based Canadian Reference for Birth Weight for Gestational Age
Kramer, M. S., Platt, R. W., Wen, S. W., Joseph, K. S., Allen, A. C., Abrahamowicz, M., Blondel, B., Bréart, G., & Bréart, G. (2001) · PEDIATRICS · doi:10.1542/peds.108.2.e35 · Cited by 1,526 · see citing works
Nielsen, J., & Wohlert, M. (1991) · Human Genetics · doi:10.1007/bf01213097 · Cited by 1,193 · see citing works
Judge, D., & Dietz, H. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67789-6 · Cited by 693 · see citing works
Qin, J., Liu, X., Sheng, X., Wang, H., & Gao, S. (2016) · Fertility and Sterility · doi:10.1016/j.fertnstert.2015.09.007 · Cited by 518 · see citing works
Development of a Comorbidity Index for Use in Obstetric Patients
Bateman, B. T., Mhyre, J. M., Hernández–Dı́az, S., Huybrechts, K. F., Fischer, M. A., Creanga, A. A., Callaghan, W. M., & Gagne, J. J. (2013) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e3182a603bb · Cited by 491 · see citing works
A prospective longitudinal evaluation of pregnancy in the Marfan syndrome
Rossiter, J. P., Repke, J. T., Morales, A. J., Murphy, E. A., & Pyeritz, R. E. (1995) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(95)90655-x · Cited by 368 · see citing works
Maternal-fetal conditions necessitating a medical intervention resulting in preterm birth
Ananth, C. V., & Vintzileos, A. M. (2006) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2006.05.021 · Cited by 330 · see citing works
Andrade, S. E., Harrold, L. R., Tjia, J., Cutrona, S. L., Saczynski, J. S., Dodd, K. S., Goldberg, R. J., & Gurwitz, J. H. (2012) · Pharmacoepidemiology and Drug Safety · doi:10.1002/pds.2312 · Cited by 268 · see citing works
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome
Bernard, V., Donadille, B., Zenaty, D., Courtillot, C., Salenave, S., Brac de la Perrière, A., Albarel, F., Fèvre, A., Kerlan, V., Brue, T., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew012 · Cited by 266 · see citing works
Pregnancy and aortic root growth in the Marfan syndrome: a prospective study
Meijboom, L. J., Vos, F. E., Timmermans, J., Boers, G. H. J., Zwinderman, A. H., & Mulder, B. J. M. (2005) · European Heart Journal · doi:10.1093/eurheartj/ehi103 · Cited by 260 · see citing works
McCormick, N., Lacaille, D. V., Bhole, V., & Aviña-Zubieta, J. A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104519 · Cited by 235 · see citing works
Joseph, K. S., & Mahey, J. (2009) · Chronic diseases in Canada · doi:10.24095/hpcdp.29.3.01 · Cited by 231 · see citing works
Donnelly, R. T., Pinto, N. M., Kocolas, I., & Yetman, A. T. (2012) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2012.03.051 · Cited by 218 · see citing works
Karnis, M. F., Zimon, A. E., Lalwani, S. I., Timmreck, L. S., Klipstein, S., & Reindollar, R. H. (2003) · Fertility and Sterility · doi:10.1016/s0015-0282(03)00974-9 · Cited by 206 · see citing works
Fertility and pregnancy outcome in Danish women with Turner syndrome
Birkebaek, N., Crüger, D., Hansen, J., Nielsen, J., & Bruun‐Petersen, G. (2002) · Clinical Genetics · doi:10.1034/j.1399-0004.2002.610107.x · Cited by 204 · see citing works
Measuring Maternal Morbidity in Routinely Collected Health Data
Roberts, C. L., Cameron, C. A., Bell, J. C., Algert, C. S., & Morris, J. M. (2008) · Medical Care · doi:10.1097/mlr.0b013e318178eae4 · Cited by 173 · see citing works
Validation of an obstetric comorbidity index in an external population
Metcalfe, A., Lix, L., Johnson, J., Currie, G. R., Lyon, A., Bernier, F. P., & Tough, S. (2015) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.13254 · Cited by 169 · see citing works
Self-citationTurner's syndrome and fertility: current status and possible putative prospects
Abir, R. (2001) · Human Reproduction Update · doi:10.1093/humupd/7.6.603 · Cited by 154 · see citing works
Hadnott, T. N., Gould, H. N., Gharib, A. M., & Bondy, C. A. (2011) · Fertility and Sterility · doi:10.1016/j.fertnstert.2011.03.085 · Cited by 153 · see citing works
Chevalier, N., Letur, H., Lelannou, D., Ohl, J., Cornet, D., Chalas-Boissonnas, C., Frydman, R., Catteau-Jonard, S., Greck-Chassain, T., Papaxanthos-Roche, A., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0925 · Cited by 142 · see citing works
Marfan syndrome: an update of genetics, medical and surgical management
von Kodolitsch, Y., & Robinson, P. N. (2007) · Heart · doi:10.1136/hrt.2006.098798 · Cited by 141 · see citing works
Incidence of Severe Adverse Neonatal Outcomes: Use of a Composite Indicator in a Population Cohort
Lain, S. J., Algert, C. S., Nassar, N., Bowen, J. R., & Roberts, C. L. (2011) · Maternal and Child Health Journal · doi:10.1007/s10995-011-0797-6 · Cited by 134 · see citing works
Marfan syndrome and pregnancy: maternal and neonatal outcomes
Curry, R., Gelson, E., Swan, L., et al. (2014) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.12515 · Cited by 132 · see citing works
Cabanes, L., Chalas, C., Christin‐Maître, S., Donadille, B., Felten, M. L., Gaxotte, V., Jondeau, G., Lansac, E., Lansac, J., Letur, H., et al. (2010) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2010.05.019 · Cited by 126 · see citing works
Hagman, A., Loft, A., Wennerholm, U.-B., Pinborg, A., Bergh, C., Aittomaki, K., Nygren, K.-G., Bente Romundstad, L., Hazekamp, J., & Soderstrom-Anttila, V. (2013) · Human Reproduction · doi:10.1093/humrep/det082 · Cited by 118 · see citing works
Congenital Cardiovascular Disease in Turner Syndrome
Bondy, C. A. (2008) · Congenital Heart Disease · doi:10.1111/j.1747-0803.2007.00163.x · Cited by 117 · see citing works
Metcalfe, A., Neudam, A., Forde, S., Liu, M., Drösler, S. E., Quan, H., & Jetté, N. (2012) · Health Services Research · doi:10.1111/j.1475-6773.2012.01440.x · Cited by 114 · see citing works
Self-citationAdministrative Hospitalization Database Validation of Cardiac Procedure Codes
Lee, D. S., Stitt, A., Wang, X., Yu, J. S., Gurevich, Y., Kingsbury, K., Austin, P. C., & Tu, J. V. (2011) · Medical Care · doi:10.1097/mlr.0b013e3182329778 · Cited by 114 · see citing works
Roman, M. J., Pugh, N. L., Hendershot, T. P., Devereux, R. B., Dietz, H., Holmes, K. W., Eagle, K. A., LeMaire, S. A., Milewicz, D. M., Morris, S. A., et al. (2016) · Journal of the American Heart Association · doi:10.1161/jaha.116.004052 · Cited by 114 · see citing works
Association of Adult Congenital Heart Disease With Pregnancy, Maternal, and Neonatal Outcomes
Ramage, K., Grabowska, K., Silversides, C., Quan, H., & Metcalfe, A. (2019) · JAMA Network Open · doi:10.1001/jamanetworkopen.2019.3667 · Cited by 102 · see citing works
Self-citationHouyel, L., Khoshnood, B., Anderson, R. H., et al. (2011) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-6-64 · Cited by 101 · see citing works
Almasi‐Hashiani, A., Samani, R. O., Mohammadi, M., et al. (2019) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-019-2291-x · Cited by 89 · see citing works
Tamariz, L. J., Harkins, T. P., & Nair, V. P. (2012) · Pharmacoepidemiology and Drug Safety · doi:10.1002/pds.2340 · Cited by 82 · see citing works
Goland, S., & Elkayam, U. (2017) · Annals of Cardiothoracic Surgery · doi:10.21037/acs.2017.10.07 · Cited by 82 · see citing works
Reproductive Issues in Women with Turner Syndrome
Folsom, L. J., & Fuqua, J. S. (2015) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2015.07.004 · Cited by 79 · see citing works
Colie, C. F. (1991) · Reproductive Toxicology · doi:10.1016/0890-6238(91)90025-b · Cited by 74 · see citing works
Fertility, pregnancy, and medical management of Turner syndrome in the reproductive years
Karnis, M. F. (2012) · Fertility and Sterility · doi:10.1016/j.fertnstert.2012.08.022 · Cited by 68 · see citing works
Sex, pregnancy and aortic disease in Marfan syndrome
Renard, M., Mosquera, L. M., Manalo, E. C., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0181166 · Cited by 54 · see citing works
Maternal and fetal outcomes in pregnancies complicated by Marfan syndrome
Cauldwell, M., Steer, P. J., Curtis, S., Mohan, A. R., Dockree, S., Mackillop, L. H., Parry, H. M., Oliver, J. J., Sterrenberg, M., Wallace, S., et al. (2019) · Heart · doi:10.1136/heartjnl-2019-314817 · Cited by 53 · see citing works
Monitoring maternal near miss/severe maternal morbidity: A systematic review of global practices
England, N., Madill, J., Metcalfe, A., Magee, L. A., Cooper, S. L., Salmon, C., & Adhikari, K. (2020) · PLoS ONE · doi:10.1371/journal.pone.0233697 · Cited by 53 · see citing works
Self-citationCardiovascular Management in Pregnancy
Brickner, M. E. (2014) · Circulation · doi:10.1161/circulationaha.113.002105 · Cited by 52 · see citing works
Pregnancy Outcomes in Marfan Syndrome: A Retrospective Cohort Study
Hassan, N., Patenaude, V., Oddy, L., et al. (2014) · American Journal of Perinatology · doi:10.1055/s-0034-1376179 · Cited by 48 · see citing works
Pregnancy outcomes among women with Marfan syndrome
Omnès, S., Jondeau, G., Détaint, D., Dumont, A., Yazbeck, C. M., Guglielminotti, J. R., Luton, D., & Azria, É. (2013) · International Journal of Gynecology & Obstetrics · doi:10.1016/j.ijgo.2013.04.013 · Cited by 42 · see citing works
Metcalfe, A., Sibbald, B., Lowry, R. B., et al. (2013) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.23206 · Cited by 41 · see citing works
Self-citationFertility and Pregnancy in Turner Syndrome
Bouet, P., Godbout, A., Hachem, H. E., Lefebvre, M., Bérubé, L., Dionne, M.-D., Kamga-Ngandé, C., & Lapensée, L. (2016) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/j.jogc.2016.02.007 · Cited by 33 · see citing works
Cardiac function and cardiac events 1-year postpartum in women with congenital heart disease.
Kampman, M., Balcı, A., Groen, H., van Dijk, A. V., Roos-Hesselink, J., van Melle, J. V., Sollie-Szarynska, K., Wajon, E., Mulder, B., van Veldhuisen, D., et al. (2015) · American Heart Journal · doi:10.1016/j.ahj.2014.11.010 · Cited by 25 · see citing works
Williams, D., Lindley, K. J., Russo, M. L., Habashi, J. P., Dietz, H. C., & Braverman, A. C. (2018) · American Journal of Perinatology Reports · doi:10.1055/s-0038-1675347 · Cited by 21 · see citing works
Lim, J., Cauldwell, M., Patel, R., et al. (2017) · International Journal of Cardiology · doi:10.1016/j.ijcard.2017.05.077 · Cited by 15 · see citing works
Kernell, K., Sydsjö, G., Bladh, M. K., et al. (2017) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2017.05.026 · Cited by 13 · see citing works
Connective Tissue Disorders in Pregnancy
Ryan, S. L., & Bhattacharyya, S. (2018) · Neurologic Clinics · doi:10.1016/j.ncl.2018.09.006 · Cited by 10 · see citing works
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
The changing face of Turner syndrome
Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J., Andersen, N. H., & Skakkebaek, A. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnac016 · Cited by 149 · see citing works
Viuff, M., & Gravholt, C. H. (2022) · Annales d Endocrinologie · doi:10.1016/j.ando.2022.06.001 · Cited by 36 · see citing works
Rodriguez-Wallberg, K. A., Sergouniotis, F., Nilsson, H. P., & Lundberg, F. E. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1135249 · Cited by 29 · see citing works
- Authors
- Ramage, K., Grabowska, K., Silversides, C., Quan, H., & Metcalfe, A.
- Affiliations
- University of Calgary (CA)
- University of British Columbia (CA)
- University of Toronto (CA)
- Corresponding author
- Metcalfe, Amy
- Venue
- Birth Defects Research
- Publisher
- Wiley
- Published
- 2020-06-11
- Volume
- 112
- Issue
- 14
- Pages
- 1067-1073
- ISSN
- 2472-1727 (ISSN-L)
- OpenAlex
- W3033127107
- Cited by
- 21
- References
- 50
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 6 · 2023: 2 · 2022: 4 · 2021: 4
- FWCI
- 1.55
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Birth Defects Research (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Alberta Children's Hospital Research Institute
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Issues in Pregnancy
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Obstetrics and Gynecology › Maternal and Perinatal Health Interventions
- Keywords
- Marfan syndrome, pregnancy outcomes, maternal morbidity, neonatal morbidity, preterm birth, small for gestational age, perinatal mortality, Turner syndrome
- MeSH terms
- Cross-Sectional Studies, Female, Humans, Infant, Newborn, Pregnancy, Retrospective Studies, Turner Syndrome, Premature Birth, Stillbirth
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