American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2019

How can we make pregnancy safe for women with Turner syndrome?

 
 
 

Abstract


Pregnancy is a crucial issue in patients with Turner syndrome (TS). Although natural pregnancies have been reported in 4–7% of TS patients, most women will need assisted reproductive technologies (ART) with oocyte donation. The main issue is the maternal mortality rate that is higher than in the general population. It is related to cardiovascular anomalies and particularly aortic dissection. TS, per se, is not a contraindication for pregnancy, but a multidisciplinary screening is mandatory before initiating a pregnancy. It includes repeated aortic diameters evaluation, blood pressure measurement and biological testing evaluating thyroid and liver functions, as well as blood glucose level. In order to make the pregnancy safe, contraindications of pregnancy should be respected and identification of high‐risk patients for cardiovascular events should be performed. Hypertension and pre‐eclampsia prevention may benefit from beta‐blockers and aspirin, respectively. Collaborations between endocrinologists, cardiologists, and obstetricians are mandatory during pregnancy and even in the postpartum period. Counseling the patients about the risks of pregnancy, screening them and spreading the international guidelines to physicians taking care of patients with TS are the three pillars of a safe pregnancy.

Volume 181
Pages 34 - 41
DOI 10.1002/ajmg.c.31682
Language English
Journal American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Full Text