Niels Andersen

and 1 more

Re: Pregnancies in women with Turner Syndrome: A retrospective multicentre UK studyNiels H. Andersen1, Claus H Gravholt2-3Department of Cardiology, Aalborg University Hospital, Hobrovej 18-22, DK-9000 AalborgDepartment of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard, DK-8200 Aarhus.Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard, DK-8200 AarhusCorresponding author:Niels Holmark AndersenDepartment of Cardiology, Aalborg University Hospital, Hobrovej 18-22, DK-9000 [email protected],We read with interest the article by Cauldwell et al., which concluded that pregnancy in women with Turner syndrome is associated with major maternal cardiovascular risks and cardiovascular assessment and counselling prior to assisted or spontaneous pregnancy should be managed by a specialist team.These conclusions are based on data from 127 pregnancies in 81 women with a Turner syndrome.Cauldwell et al. describe data from 16 different centres with one to 42 pregnancies per centre over an observation period of 20 years. Details on pregnancies per centre are not presented but there must have been many centres where a Turners syndrome pregnancy was a rarity not even happening once a year. When analysing the numbers, it seems that the different centres beyond the centre with 42 cases will have seen an average of 6 pregnant women with Turner syndrome over 20 years. This must have had significant impact on the experience and expertise of the obstetricians in the different centres. Could this be the reason why the caesarean section rates where markedly higher than other wise reported?In the present article the rate was 61-67 % compared to data from Sweden where it was 38 % and 47 % in France. 1-2Cauldwell et al. also state that pregnancies in Turner syndrome are associated with major cardiovascular risks based upon three events. One woman suffered a type A dissection at 18 weeks gestation despite a normal aortic size but a bicuspid aortic valve. No other details about hypertension, aortic morphology or growth rates are presented. The two other events were women with severe aortic disease that should have been counselled and offered prophylactic aortic surgery before pregnancy. So, two out of three cases were not events but results of inadequate clinical care. In the Cauldwell cohort only 57.4% had seen a cardiologist within 24 months before getting pregnant, which is far from what is necessary in the caretaking of women with Turner syndrome and a childbearing potential.Data from Scandinavia, France, and from the Alliance for Adult Research in Congenital Cardiology tells another story. 2-4 In these cohorts the number of pregnancy related dissections was very low due to pre-pregnancy counselling, centralised follow-up, and timely prophylactic aortic surgery before considerations about normal pregnancy or egg donation. This simply generates better results.A safe pregnancy and childbirth are very important for women with Turner syndrome. What we can learn from this article is what not to do. Pregnancy and delivery in women with Turner syndrome must be centralised and a timely cardiovascular assessment of women with Turner syndrome and a pregnancy wish should be obligatory. Otherwise, we will end with results as described in this article.In other words, the conclusion of the article ought to have been lack of centralisation and appropriate cardiovascular pre-pregnancy assessment leads to increased morbidity and cardiovascular risk during pregnancy childbirth. If such pre-pregnancy assessment is in place and caretaking is centralised, cardiovascular risk during pregnancy is very low in Turner syndrome. 1-4References1. Hagman A, Källén K, Barrenäs M-L, Landin-Wilhelmsen K, Hanson C, Bryman I, et al. Obstetric outcomes in women with Turner karyotype. J Clin Endocrinol Metab. 2011; 96: 3475–82.2. Bernard V, Donadille B, Zenaty D, Courtillot C, Salenave S, Brac de la Perrière A, et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod 2016; 31:782–8.3. Hagman A, Loft A, Wennerholm U-B, Pinborg A, Bergh C, Aittomäki K, et al. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study. Hum Reprod 2013; 28: 1598–609.4. Grewal J, Valente AM, Egbe AC, Wu FM, Krieger EV, Sybert VP et al. Cardiovascular outcomes of pregnancy in Turner syndrome. Heart 2021;107 :61–6.

Kristian Groth

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Objective In Marfan syndrome, pregnancy is considered as high-risk due to connective tissue insufficiency and increased risk of aortic dissection. The objective was to demonstrate the consequences on maternal health, including aortic events in women with Marfan syndrome. Furthermore, to investigate outcome in undiagnosed with Marfan syndrome at the time of pregnancy. Design Information on aortic operations, aortic dissections, and pregnancy related outcome, from a national cohort of women with Marfan syndrome (n=195) were compared to an age-matched background population (n=19,500). The women with Marfan syndrome were divided according to whether the Marfan syndrome diagnosis was known at the time of pregnancy or not. Setting National health care registers Methods Main outcomes measures Registered events from the National Patient Registry in Denmark Results Significantly fewer women with Marfan syndrome gave birth, compared to the background population. In Marfan syndrome, complications related to cervix were increased (HR: 19.8 (95% CI: 2.2-177.5)) and the number of caesarean sections was higher (HR: 2.09 (95% CI: 1.41-3.08)). No women with known Marfan syndrome had a pregnancy related aortic dissection and the consequences of pregnancy and delivery on future aortic events seemed limited. Among undiagnosed women with Marfan syndrome there were more foetal deaths and all delivery-related dissections came from this subgroup. Conclusion The surveillance program for pregnant women with Marfan syndrome seems appropriate and only women with undiagnosed Marfan syndrome experienced a pregnancy-related aortic dissection. However, there is still an increased risk of complications during pregnancy, but the overall outcome data are quite reassuring.