JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
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Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services.

OBJECTIVES: Hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5-8000 individuals. Pregnancy outcomes are rarely reported. The major reason is that most women do not have their HHT diagnosed prior to pregnancy. Using a large well-characterised series, we studied all pregnancies known to have occurred in HHT-affected women, whether or not their diagnosis was known at the time of pregnancy. Our aim was to estimate rates and types of major complications of HHT in pregnancy, to guide management decisions.

DESIGN: Cohort study, with prospective, retrospective and familial components.

SETTING/POPULATION: Tertiary referral centre population.

METHODS: All 262 pregnancies in the 111 women with HHT and pulmonary arteriovenous malformations (PAVMs) reviewed between 1999 and 2005 were studied. Eighty-two women (74%) did not have a diagnosis of HHT/PAVM at the time of pregnancy. 222 pregnancies in their 86 HHT-affected relatives were also studied.

MAIN OUTCOME MEASURES: PAVM bleed, stroke and maternal death.

RESULTS: Thirteen women experienced life-threatening events during pregnancy: 1.0% (95% CI 0.1-1.9) of pregnancies resulted in a major PAVM bleed; 1.2% (0.3-2.2%) in stroke (not all were HHT related); and 1.0% (0.13-1.9%) in maternal death. All deaths occurred in women previously considered well. In women experiencing a life-threatening event, prior awareness of HHT or PAVM diagnosis was associated with improved survival (P = 0.041, Fisher's exact test).

CONCLUSIONS: Most HHT pregnancies proceed normally. Rare major complications, and improved survival outcome following prior recognition, means that pregnancy in a woman with HHT should be considered high risk. Recommendations for pregnancy management are provided.

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