Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes

Karen Wain, Karen Swanson, William Watson, Elysia Jeavons, Amy Weaver, Noralane Morey Lindor

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2009-2014
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number8
DOIs
StatePublished - Aug 2012

Fingerprint

Hereditary Hemorrhagic Telangiectasia
Pregnancy Outcome
Intracranial Arteriovenous Malformations
Telangiectasis
Pregnancy
Lung
Reproductive History
Epistaxis
Uterine Hemorrhage
Arteriovenous Malformations
Live Birth
Low Birth Weight Infant
First Pregnancy Trimester
Pre-Eclampsia
Infertility
Blood Vessels
Registries
Gastrointestinal Tract
Pregnant Women
Spine

Keywords

  • Birth defects
  • Genetic counseling
  • HHT
  • Malformation
  • Miscarriage
  • Pregnancy
  • Risk
  • Stillbirth

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes. / Wain, Karen; Swanson, Karen; Watson, William; Jeavons, Elysia; Weaver, Amy; Lindor, Noralane Morey.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 8, 08.2012, p. 2009-2014.

Research output: Contribution to journalArticle

Wain, Karen ; Swanson, Karen ; Watson, William ; Jeavons, Elysia ; Weaver, Amy ; Lindor, Noralane Morey. / Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 8. pp. 2009-2014.
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