Fertility in Turner Syndrome

Jacqueline K. Hewitt; Yasmin Jayasinghe; David J. Amor; Lynn H. Gillam; Garry L. Warne; Sonia Grover; Margaret R. Zacharin

Disclosures

Clin Endocrinol. 2013;79(5):606-614. 

In This Article

Risks of the Mother

Pregnant women with TS require tertiary medical and obstetric care due to increased risk of pregnancy-related complications. These include thyroid dysfunction, obesity, diabetes, hypertension and preeclampsia, which occur in approximately 40% of patients with TS compared with 6–12% of the general population.[2,29–31] Severe complications such as deterioration of congenital heart disease, heart failure, aortic dissection and sudden death are well described.[32–34] Importantly, women with TS are at increased risk of development of aortic cystic medial necrosis independent of congenital heart disease; 10% of patients with aortic dilatation, dissection or rupture have no prior cardiac risk factors.[35,36] Women with TS are at significant risk for aortopathy and also for short stature – it is thus important to assess aortic size corrected for body surface area (aortic size index), although dissection can still occur at smaller aortic sizes in the absence of valve and arch abnormalities.[36,37]

In an unbiased study of 115 women from a national TS cytogenetic registry in Sweden, the risk of aortic dissection was found to be 1%, and in a review of 101 TS pregnancies from oocyte donation programs in the United States, the risk of maternal death due to aortic dissection was estimated to be at least 2%.[4,38] The risk of aortic dissection is associated with factors such as congenital cardiovascular malformation (particularly bicuspid aortic valve, coarctation of the aorta and aortic root dilatation), history of foetal lymphoedema, hypertension, obesity and multiple pregnancy.[39,40] Multiple embryo transfer is strongly contraindicated in women with TS.[30,41] A review of pregnancies in 93 women demonstrated inadequacies of care, with only 37·6% prescreened with echocardiography or MRI: 37·8% experienced hypertensive illness and two died from aortic rupture.[2] Prematurity occurred in 38·3%, more commonly in those who were hypertensive; inta-uterine growth restriction occurred in 27·5%, and there was one foetal demise associated with preeclampsia. Only 40% had an entirely normal pregnancy.

Women with known cardiovascular malformations should therefore consider avoiding pregnancy entirely; cardiac exclusion criteria for pregnancy have been suggested by consensus in French and US groups[1,32,40,42] (Table 2). Termination of pregnancies due to factors associated with maternal TS risk has been reported.[17]

Involvement of a cardiologist for prepregnancy risk assessment and frequent review during pregnancy is recognized as essential. Initial evaluation should include echocardiogram and MRI of cardiac anatomy and aortic dimensions, although it is unclear whether this screening will eliminate any risk. Some TS women who had aortic dissection showed a preceding increase in ascending aortic diameter and had a high aortic size index (normalized diameter to surface area).[36] However, the presence of normal aortic dimensions does not exclude the risk of sudden aortic dissection.[37]

While vaginal delivery may be possible, elective or emergency caesarean section may be required to minimize cardiac risk, to manage foeto-pelvic disproportion due to maternal short stature and narrow pelvis, or to expedite delivery in management of preeclampsia.[7,30]

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