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Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes


  • How to Cite this Article: Wain K, Swanson K, Watson W, Jeavons E, Weaver A, Lindor N. 2012. Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes. Am J Med Genet Part A. 158A:2009–2014.


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations (AVM) in the brain, lung, liver, gastrointestinal tract, or spine. While pregnant women with HHT are known to have increased risks due to pulmonary AVMs, little is known about any increased risk for fetal birth defects or other adverse pregnancy outcomes. To investigate potential increased risk, individuals with a clinical diagnosis of HHT were asked to complete a survey composed of four sections: demographics, personal history of HHT, personal history of birth defects (modeled after state registries), and reproductive history. A total of 226 participants reported outcomes of 560 pregnancies, as well as self-reported personal history of birth defects. Of the 560 pregnancies, 450 (80.4%) resulted in 457 live births and 63 (13.8%) were pre-term. Of the 110 pregnancy losses, 80 (72.7%) were first trimester and five were stillborn. Anomalies considered to be medically or cosmetically significant were reported in 17 babies (3.7%). The presence of significant anomalies was not significantly associated with whether the baby had an HHT diagnosis (P = 0.55) or the gender of the parent with HHT (P = 0.32). Four liveborn babies and one stillborn had a cerebral AVM or hemorrhage in the perinatal period. Prevalence of uterine hemorrhage, pre-eclampsia, placental abnormalities, low-birth weight, and infertility did not appear increased over the general population. These data provide some reassurance that HHT does not lead to an appreciable increased risk for birth defects or other adverse pregnancy outcomes. © 2012 Wiley Periodicals, Inc.

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