Maternal health and pregnancy outcome in diagnosed and undiagnosed Marfan syndrome: A registry-based study

Kristian A Groth, Birgitte B Nielsen, Inger N Sheyanth, Claus H Gravholt, Niels H Andersen*, Kirstine Stochholm

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review


In Marfan syndrome (MFS), pregnancy is considered as high risk due to the deficiency of fibrillin in the connective tissue and increased risk of aortic dissection. The objective was to demonstrate the consequences on maternal health, in women with diagnosed and undiagnosed MFS at the time of pregnancy and childbirth. By using national health care registries, we identified all pregnancy related outcomes, from women with MFS (n = 183) and an age-matched background population (n = 18,300). We found 91 pregnancies during follow-up. Significantly fewer women with MFS gave birth, compared to the background population. No women with known MFS had a pregnancy related aortic dissection but complications related to the cervix were increased (HR:19.8 [95% CI:2.2-177.5]). Fifty women with MFS were undiagnosed at the time of their first pregnancy and/or childbirth. Among these, there were more birth canal related complications HR:27.2 (95% CI: 2.3-315.0), preeclampsia (HR:2.25 [95% CI: 1.11-4.60]), fetal deaths (HR:12.3 [95% CI: 1.51-99.8]), and all delivery-related dissections came from this subgroup. In conclusion, undiagnosed women with MFS experienced more pregnancy and childbirth related complications including fetal death, birth canal issues, preeclampsia, and aortic disease, which emphasizes the need for an early MFS diagnosis and special care during pregnancy and childbirth.

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Issue number5
Pages (from-to)1414-1420
Number of pages7
Publication statusPublished - May 2021


  • aorta
  • connective tissue
  • extra uterine pregnancy
  • pregnancy loss
  • preterm birth


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